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Encyclopedia > ATRT

Atypical Teratoid Rhabdoid Tumor (AT/RT) Tumor or tumour literally means swelling, and is sometimes still used with that meaning. ...

Atypical Teratoid Rhabdoid Tumor
Classification & external resources
Rhabdoid Tumor Cell - 400X Magnification
ICD-10 C70.-C72.
ICD-9 191-192
OMIM 609322
DiseasesDB 30780
MedlinePlus 000768
eMedicine ped/3012 
MeSH D016543

AT/RT is a highly malignant childhood brain tumor first described in 1978. Previously, it had likely been misdiagnosed as medulloblastoma, but AT/RT has a worse prognosis and is resistant to the traditional treatment protocols for medulloblastoma. AT/RT appears to be related to the rhabdoid tumor, which occurs outside the central nervous system. Image File history File linksMetadata No higher resolution available. ... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) is a coding of diseases and signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or diseases, as classified by the World Health Organization (WHO). ... // C00-D48 - Neoplasms (C00-C14) Malignant neoplasms, lip, oral cavity and pharynx (C00) Malignant neoplasm of lip (C01) Malignant neoplasm of base of tongue (C02) Malignant neoplasm of other and unspecified parts of tongue (C03) Malignant neoplasm of gum (C04) Malignant neoplasm of floor of mouth (C05) Malignant neoplasm of... // C00-D48 - Neoplasms (C00-C14) Malignant neoplasms, lip, oral cavity and pharynx (C00) Malignant neoplasm of lip (C01) Malignant neoplasm of base of tongue (C02) Malignant neoplasm of other and unspecified parts of tongue (C03) Malignant neoplasm of gum (C04) Malignant neoplasm of floor of mouth (C05) Malignant neoplasm of... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Disease Bold textDatabase is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... MedlinePlus (medlineplus. ... eMedicine is an online clinical medical knowledge base that was founded in 1996. ... Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. ... In medicine, malignant is a clinical term that means to be severe and become progressively worse, as in malignant hypertension. ... A brain tumor is any intracranial tumor created by abnormal and uncontrolled cell division, normally either found in the brain itself (neurons, glial cells (astrocytes, oligodendrocytes, ependymal cells), lymphatic tissue, blood vessels), in the cranial nerves (myelin-producing Schwann cells), in the brain envelopes (meninges), skull, pituitary and pineal gland... It has been suggested that this article or section be merged into brain tumor. ... There are very few or no other articles that link to this one. ... A diagram showing the CNS: 1. ...


Of the 3 children per 1,000,000 diagnosed with Pediatric Central Nervous System (CNS) Cancer in the United States each year, approximately 3% will be diagnosed with AT/RT, yielding approximately 30 new cases of AT/RT annually (See Table D6). It is likely, however, that as diagnostic techniques improve and awareness of AT/RT increases, the proportion of AT/RT diagnoses will also increase. Recent trends suggest that rate of AT/RT diagnosis is increasing by about 2.7% per year. Considerable debate has been focused on whether AT/RTs are the same as rhabdoid tumors of the kidney (i.e., just extra-renal MRTs (Maligant Rhaboid Tumors) - see InfoBox eMedicine link). The recent recognition that both CNS atypical teratoid/rhabdoid tumors (AT/RT) and MRTs have deletions of the INI1 gene indicates that rhabdoid tumors of the kidney and brain are identical or closely related entities. This observation is not surprising because rhabdoid tumors at both locations possess similar histologic, clinical, and demographic features. Moreover, 10-15% of patients with MRTs have synchronous or metachronous brain tumors, many of which are second primary malignant rhabdoid tumors. A diagram showing the CNS: 1. ...


A recent survey of 36 AT/RT patients at St. Jude Children's Hospital from 1984 to 2003 showed the survival rate for children under 3 is < 10%, whereas for older children, the survival rate is potentially over 70% (See: Figure 1). Because most patients with AT/RT are less than 3 years old, the overall prognosis for AT/RT is very poor. Current research is focusing on using chemotherapy protocols that are effective against rhabdomyoscarcoma in combination with surgery and radiation therapy. St. ... A rhabdomyosarcoma is a type of cancer, specifically a sarcoma (cancer of connective tissues), in which the cancer cells are thought to arise from skeletal muscle progenitors. ...

Contents

What is the history of Atypical Teratoid Rhabdoid Tumors of the central nervous system?

Malignant rhabdoid tumor (MRT) was initially described in 1978 as a rhabdomyosarcomatoid variant of a Wilms tumor because of its occurrence in the kidney and because of the resemblance of its cells to rhabdomyoblasts. The absence of muscular differentiation led Haas and colleagues to coin the term rhabdoid tumor of the kidney in 1981. Although renal MRT was historically included in treatment protocols of the National Wilms Tumor Study (NWTS) Group, this tumor is now recognized as an entity separate from a Wilms tumor. In contrast to a Wilms tumor, an MRT of the kidney is characterized by the early onset of local and distant metastases and resistance to chemotherapy. Whereas the overall survival rate for Wilms tumors exceeds 85%, the survival rate for renal MRTs is only 20-25%. Malignant rhabdoid tumor (MRT) is one of the most aggressive and lethal malignancies in pediatric oncology. Since rhabdoid tumor of the kidney was originally described, malignant rhabdoid tumors have been reported in practically every location in the body, including the brain, liver, soft tissues, lung, skin, and heart.


Atypical teratoid rhaboid tumors of the central nervous system (CNS) were first described by Rorke and her associates at the Children’s Hospital of Philadelphia in 1987. Early literature called these tumors both atypical teratoid rhaboid tumors or malignant rabdoid tumors (MRT) of the CNS. Again, the term "rhabdoid" was used due to its similarity with rhabdomyosarcoma under the light microscope. By 1995 AT/RTs had become regarded as an aggressive, newly defined, biologically unique class of primarily Brain and Spinal tumors predominantly affecting infants and young children. In January 2001, the National Cancer Institute and the Office of Rare Diseases hosted a Workshop on Childhood Atypical Teratoid/Rhabdoid Tumors of the Central Nervous System. Twenty-two participants from 14 different institutions came together to discuss the biology, treatments and new strategies for these tumors. The consensus paper on the biology of the tumor was published in Clinical Research. Given the rare nature of this tumor, there have only been a less than fifty (50) AT/RT papers in the literature since it was initially reported. There is a German Wiki page on AT/RT (Atypischer teratoider/rhabdoider Tumor). The Google German to English Google Translation is also provided. A diagram showing the CNS: 1. ... A brain tumor is any mass created by an abnormal and uncontrolled growth of cells either found in the brain (neurons, glial cells, epithelial cells, myelin producing cells, etc. ... Spinal tumors are located in the spinal cord and are mostly metastases from primary cancers elsewhere (commonly breast, prostate and lung cancer). ...


The recent recognition that CNS atypical teratoid/rhabdoid tumors (AT/RT) have deletions of the INI1 gene indicates that rhabdoid tumors of the kidney and brain are identical or closely related entities. This observation is not surprising because rhabdoid tumors at both locations possess similar histologic, clinical, and demographic features.

  • Jeffrey S Dome, MD; D Ashley Hill, MD, (January 8, 2007). "Malignant Rhabdoid Tumor" (in English). eMedicine from WebMD. This excellent article focuses on renal and extrarenal rhabdoid tumors that arise outside the CNS. The histology, genetics, and prognosis are almost identical to CNS MRT (i.e., AT/RT)
  • Strother D. (October, 2005). "Atypical teratoid rhabdoid tumors of childhood: diagnosis, treatment and challenges" (in English). Expert Rev Anticancer Ther 5 ((5)): 907-15. Atypical teratoid rhabdoid tumor of the brain was described as a unique entity in the late 1980s. At presentation, the differential diagnosis includes medulloblastoma, primitive neuroectodermal tumor, ependymoma and choroid plexus carcinoma. Atypical teratoid rhabdoid tumor behaves in a very aggressive manner and while cure is possible for a small minority of patients, no standard or effective therapy has been defined for most patients. Since its first description, considerable pathologic, cytogenetic and molecular characterizations, as described in this review, have been accomplished that provide insight into the possible molecular etiology of the disease and of malignant rhabdoid tumors that occur outside the CNS.
  • Beigel J; Kalpana G, Knudsen E, et al. (2002). "The role of INI and the SWI/SNF complex in the development of rhabdoid tumors: Meeting Summary from the workshop on childhood atypical teratoid rhabdoid tumors" (in English). Cancer Research 2002 (63:): 323-328. 
  • Lefkowitz JB; Rorke LB, Packer RJ (1996). "Atypical teratoid tumors of infancy: definition of an entity" (in English). Ann Neurol (22): 448-489. Abstract. Paper reviews 52 AT/RT cases, hard to distinquish from PNETs, notes Chromosone 22 abnormalities

What is the pathology of AT/RT tumors?

The pathology of the tumor is highly technical only relevant to the new brain tumor parent to show the difficulty in pathologically diagnosis to highlight the basic science research that is underway to understand this tumor. The technical information is included for those that have a background and interest in this. For all others- skip to the next section. Pathology (from Greek pathos, feeling, pain, suffering; and logos, study of; see also -ology) is the study of the processes underlying disease and other forms of illness, harmful abnormality, or dysfunction. ...


Technical Information

Histology

Histology is the way the tumor looks under the microscope. The tumor’s architecture is jumbled small and large cells. The tissue of this tumor contains many different types of cells including the presence of rhabdoid cells, large spindled cell, epithelial and mesencymal components and focal areas resembling a primitive neuroectodermal tumor. As much as 70% of the tumor may be made up of PNET (Primitive Neuroectodermal Tumor) cells. Ultrastructure characteristic whorls of intermediate filaments in the rhabdoid tumors (as with rhabdoid tumors in any area of the body). Ho and associates reported a previously unrecognized component of sickled shaped embracing cells that were present in all eleven cases atypical teratoid/rhadboid tumors that were reviewed. A thin section of lung tissue stained with hematoxylin and eosin. ... Tumor or tumour literally means swelling, and is sometimes still used with that meaning. ... Robert Hookes microscope (1665) - an engineered device used to study living systems. ... Biological tissue is a group of cells that perform a similar function. ... A brain tumor is any intracranial tumor created by abnormal and uncontrolled cell division, normally either found in the brain itself (neurons, glial cells (astrocytes, oligodendrocytes, ependymal cells), lymphatic tissue, blood vessels), in the cranial nerves (myelin-producing Schwann cells), in the brain envelopes (meninges), skull, pituitary and pineal gland... Epithelial reticular cells (or epithelioreticular cells) are a structure in both the cortex and medulla of the thymus. ... X-Ray of a child with Ewings sarcoma of the tibia Ewings sarcoma is the common name for primitive neuroectodermal tumor. ... X-Ray of a child with Ewings sarcoma of the tibia Ewings sarcoma is the common name for primitive neuroectodermal tumor. ... Ultrastructure is the detailed structure of a biological specimen, such as a cell, tissue, or organ, that can be by electron microscopy. ... // Intermediate filaments (IFs) are important structural proteins which are located both in the cytoplasm and the nucleus. ...


Immunohistochemistry

Immunohistochemistry refers to the process of localizing proteins in cells of a tissue section exploiting the principle of antibodies binding specifically to antigens in biological tissues. A tissue sample is stained to identify specific cellular proteins. Immunohistochemical staining is widely used in the diagnosis and treatment of cancer. Specific molecular markers are characteristic of particular cancer types. Immunohistochemistry is also widely used in basic research to understand the distribution and localization of biomarkers in different parts of a tissue. Below are proteins found in an Atypical Teratoid Rhaboid Tumor. Immunohistochemistry or IHC refers to the process of localizing proteins in cells of a tissue section exploiting the principle of antibodies binding specifically to antigens in biological tissues. ...

Introduction Vimentin is part of the intermediate filament family. ... Categories: Cell biology stubs | Keratins ... Intermediate filaments are one component of the cytoskeleton - important structural components of living cells. ... Synaptophysin is a synaptic vesicle glycoprotein weighing 38 kDa. ... It has been suggested that Chromogranin A, Secretoneurin be merged into this article or section. ... G-Actin (PDB code: 1j6z). ... Intermediate filaments are one component of the cytoskeleton - important structural components of living cells. ... An antigen is a molecule that stimulates an immune response. ... S-100 protein is a type of low molecular weight protein found in vertebrates characterized by two calcium binding sites of the helix-loop-helix (EF-hand type) conformation. ... Intermediate filaments are one component of the cytoskeleton - important structural components of living cells. ... Alpha-fetoprotein (AFP) is a protein that is normally only produced in the foetus during its development. ... Human chorionic gonadotropin (hCG) is a peptide hormone produced in pregnancy, that is made by the embryo soon after conception and later by the syncytiotrophoblast (part of the placenta). ...

Cytogenetic Studies

Cytogenetics is the study of the tumor’s genetic make-up. A technique called fluoresecene in situ hybridization (FISH) has been gaining attention in the literature because it may be able to help locate a mutation or abnormality that may be allowing tumor growth. Also, this technique has been shown to be useful in identifying some tumors and distinguishing two histologically similar tumors from each other (such as AT/RTs and PNETs). In particular, medulloblastmas/PNETs may possibly be differentiated cytogenetically from AT/RTs as chromosomal deletions of 17p are relatively common with medulloblastoma and abnormalities of 22q11.2 are not seen. On the other hand, chromosomal 22 deletions are very comomon in AT/RTs. A metaphase cell positive for the bcr/abl rearrangement using FISH Cytogenetics is the study of the structure of chromosome material. ... A metaphase cell positive for the bcr/abl rearrangement using FISH. The chromosomes can be seen in blue. ... 22q11. ...


In importance of the hSNF5/INI1 gene located on chromosomal band 22q11.2 is highlighted in the summary paper form the Workshop on Childhood Atypical Teratoid Rhabdoid Tumors as the mutation’s presence is sufficient to change the diagnosis from a medulloblastoma or PNET to the more aggressive AT/RT classification. However, it should be noted that this mutation is not present in 100% of cases. Therefore, if the mutation is not present in an otherwise classic AT/RT immunohistochemical and morphologic pattern then the diagnosis remains an AT/RT. Diagram indicating location of the SNF2 Subfamily of proteins and their relative similarity with other proteins organized by their conservation of NTP-binding motifs. ... 22q11. ...

  • Bansal KK; Goel Deepak2 (2007). "Atypical teratoid/rhabdoid tumors of central nervous system" (in English?). Journal of Pediatric Neurosciences 2 (1:): 1-6. A nice Indian review article of the AT/RT literature. It reviews the clinical features and current understanding of the epidemiology, biology and management of pediatric atypical teratoid/rhabdoid tumors and analyzing the different treatment modalities.
  • Anil V. Parwani, M.D., Ph.D.; Edward B. Stelow, M.D.; Stefan E. Pambuccian, M.D.; Peter C. Burger, M.D.; Syed Z. Ali, M.D. (April 25, 2005). "Atypical Teratoid/Rhabdoid Tumor of the Brain Cytopathologic Characteristics and Differential Diagnosis" (in English). CANCER (CANCER CYTOPATHOLOGY) 105: 65-70. The authors describe the clinicoradiologic and cytomorphologic features of nine cases of AT/RT (1993-2002), with emphasis on their unique morphologic appearance; then, the differential diagnosis is discussed based on the anatomic location and the patient’s age. Cytologic examination by SS, SP, or FNA offers a useful alternative to frozen section during intraoperative consultation. Cytomorphologic features are unique and lead to an accurate diagnosis in the right clinicoradiologic context. The differential diagnosis includes medulloblastoma (in cerebellar tumors), primitive neuroectodermal tumor (in suprasellar tumors), choroidplexus carcinoma, and malignant glioma.
  • Bruch LA; Hill DA, Cai Dx, et al. (2001). "A role for flouresence is situ hybidization detection of chromosomal 22q dosage in distinguishing atypical teratoid/rhabdoid tumors from medulloblastoma.central primitive neurectodermal tumors" (in English). Hum Pathol (32): 156-162. This paper reports a comparison of 8 AT/RT, 12 MB/PNETs and 4 central nervous system PNETs using fluoresecene in situ bybridization (FISH). None of the MB/PNET had a deletion of 22q, whereas 75% of the AT/RTs had deletion of 22q. The authors highlight the diagnositic potential of this technique in assisting in making the correct diagnosis.
  • Morley E. (2001). "[www.sas.upenn.edu/~emorley FISH as a Diagnostic Tool on Childhood Cancer]" (in English). This paper discussing the utilization of fluoresecene in situ bybridization (FISH) as a diagnostic tool has a very good introduction into childhood cancer and brain tumors.
  • Hauser P.; Slowik F. Babosa M. et al. (2000). "A case of central nervous system atypical teratoid.rhabdoid tumor (Hungarian)." (in Hungarian). Magy Onkol 2000 (44): 285-288. Abstract reviewed on medline as article is in Hungarian. Review case of a female infant, she presented at six weeks and died 8 months later.
  • Oka H; Scheithauer BW (1999). "Clinicopathologic characteristics of atypical teratoid/rhabdoid tumor" (in English?). Neurol Med Chir (Tokyo) (39): 510-7. A meta-anaylsis of 133 cases (15 new and 118 from the literature) which reviews the distinguishing clinicopathologic features of this tumor.
  • Ho DM; Hsu CY, Wong TT (2000). "Atypical teratoid/rhabdoid tumors of the central nervous system: a compariative study with primitive neurectodermal tumors/medulloblastoma" (in English). Acta Neuropathol (Berl) (99:): 482-8. A comparison of 11 AT/RTs and 121 PNET/medulloblastomas through histopathologic and immunohistochemical studies. Histopathological studies of AT/RT showed that in addition to the commonly recognized components, i.e., rhabdoid cells, small (PNET/MB) cells, spindle cells and epithelial components, there was a previously unrecognized component, sickle-shaped embracing cells, which were present in all cases and could be useful as a histological marker of this tumor. Immunohistochemical studies showed divergent differentiation of the tumor cells and among the 16 antibodies studied, vimentin, neuron-specific enolase, epithelial membrane antigen and glial fibrillary acidic protein were most commonly reactive
  • Bhattacharjee M.; Hicks J, Langford L, Dauser R, Strother D, Chintagumpala M, Horowitz M, Cooley L, Vogel H. (1997). "Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood" (in English). Ultrastruct Pathol. 21 (4): 369-78. The authors in Texas Children's Hospital report 4 AT/RTs (2 males, 2 females, age range 6 months to 4 1/2 years, 3 cerebellar, 1 cerebral). The immunocytochemical profile is complex, but germ cell markers are consistently negative. All cases showed a variety of histologic patterns with necrosis. Typical rhabdoid cells, PNET areas, undifferentiated bland large cell regions, dense connective tissue, and solid clusters of epithelial cells were present. Immunocytochemistry showed strong vimentin reactivity, whereas epithelial membrane antigen, cytokeratin, glial fibrillary acidic protein, S-100 protein, desmin, and smooth muscle actin were present to a lesser extent in most cases. Germ cell markers were negative. Ultrastructural features vary and depend on the site sampled, but whorled bundles of cytoplasmic intermediate filaments are a distinctive finding in cells of the rhabdoid component. Ultrastructurally, many cells contained aggregates of cytoplasmic intermediate filaments, and some cells had a basal lamina on one aspect. Cells with interdigitating cytoplasmic borders were seen and rare cells had microtubules. Separation of AT/RT from PNET based on histopathologic and biologic evaluation is important, because AT/RTs are aggressive tumors with a dismal prognosis and currently there is no effective treatment. Neither clinical signs and symptoms nor radiologic features will distinguish AT/RTs from PNETs.

A metaphase cell positive for the bcr/abl rearrangement using FISH. The chromosomes can be seen in blue. ... A metaphase cell positive for the bcr/abl rearrangement using FISH. The chromosomes can be seen in blue. ...

What other type of tumors can AT/RT tumors be mistaken for?

The critical step in treatment planning is an accurate pathologic diagnosis. Atypical teratoid rhaboid tumors are very rare tumors which may be mistaken for medulloblastomas, primitive neurectodermal tumors (PNET), choroid plexus carcinomas or germ cell tumors. Atypical teratoid rhaboid tumors may have areas that are identical to other CNS neoplasms as rhabdoid characteristics are not the sole component of these tumors. The rhabdoid aspect may be located only in focal areas or less pronounced. Tumor (American English) or tumour (British English) originally means swelling, and is sometimes still used with that meaning. ... It has been suggested that this article or section be merged into brain tumor. ... X-Ray of a child with Ewings sarcoma of the tibia Ewings sarcoma is the common name for primitive neuroectodermal tumor. ... The choroid plexus is the area on the ventricles of the brain where cerebrospinal fluid (CSF) is produced. ... Germ cell tumours are ovarian neoplasms derived from germ cells. ... A brain tumor is any mass created by an abnormal and uncontrolled growth of cells either found in the brain (neurons, glial cells, epithelial cells, myelin producing cells, etc. ...


It is important to consider AT/RT, particularly when a medulloblastoma or PNET diagnosis is entertained in the child under the age of one as these children are at the highest risk. Cytogenetic studies can assist in differentiating MB/PNETs from AT/RTs. Germ cell markers in tumor tissues and serum can guide an accurate diagnosis of germ cell tumors as AT/RTs lack these markers. It has been suggested that this article or section be merged into brain tumor. ... X-Ray of a child with Ewings sarcoma of the tibia Ewings sarcoma is the common name for primitive neuroectodermal tumor. ... A metaphase cell positive for the bcr/abl rearrangement using FISH Cytogenetics is the study of the structure of chromosome material. ... A germ cell is a kind of cell that is part of the germline, and is involved in the reproduction of organisms. ... Germ cell tumours are ovarian neoplasms derived from germ cells. ...


Misclassification of the tumor’s pathology can lead to errors in treatment and prognosis. On study revealed an 8.8% major disagreement in neuropathologic cases. Thus, the American Cancer Society and the American Society of Clinical Pathologist recommend a second opinion on all cancer diagnoses.


Compared to medulloblastoma, AT/RT has a significantly worse prognosis. The reasons that AT/RT has such a poor prognosis include the fact that they are resistant to many current therapies, the tumor quickly reoccurs, and the fact that they occur in such a young population (often less than 3 years old).

  • Cuesta MT; deLeon Bojorge B, Rivas H, et al (2001). "Atypical rhabdoid/teratoid tumors: a presentation of three cases and a review of the literature" (in English). Rev Neurol 2001 (32:): 618-624. This paper reports the clinical, radiological, cytohistopathological and immunohistopathological aspects of three cases of AT/RTs.
  • Biegel JA; Fogelgren B, Zhoe Jy, et al (2000). "Mutations of the INI1 rhabdoid tumor suppressor gene in medulloblastomas and primitive neurectodermal tumors of the central nervous system" (in English). Clin Cancer Res 2000 (6): 2759-63. The frequency of deletions and mutations of INI1 was determined in 52 children whose diagnosis was medulloblastomas (MB) or PNET of the CNS. 16 of the 52 children had Chromosone 22 deletions,hSNF5/INI1 Mutations (implies AT/RT) were detected in four of these tumors. The finding that approximately one-fourth (14 of 52, or 27%) of MB/PNETs may have loss of heterozygosity for markers that map to 22q suggests the presence of another tumor suppressor gene that maps to this chromosome Recommendations are made that all children less than 1 year of age diagnosed with an MB/PNET should have the tumor tissue analyzed for chromosome 22 deletion and INI1 mutation.
  • Beigel JA (1999). "Cytogenetics and molecular genetics of childhood brain tumors" (in English). Neuro-oncol (1:): 139-51. This is a review article of cytogentetic and molecular genetic changes which have been idenfied in childhood brain tumors to date
  • Jay V; Edwards V, Halliday W, Rutka J, Lau R (May-June, 1997). ""Polyphenotypic" tumors in the central nervous system: problems in nosology and classification" (in English). Pediatr Pathol Lab Med. (17): 369-89. University of Toronto, Ontario, Canada (Hospital for Sick Children). Study oncerns two posterior fossa neoplasms, both of which displayed a "polyphenotypic" expression of neural, epithelial, myogenic, and glial markers, including synaptophysin, neurofilament, vimentin, glial fibrillary acidic protein, S-100, neuron-specific enolase, desmin, S antigen, MIC2, cytokeratin, epithelial membrane antigen, and carcinoembryonic antigen. One tumor showed complex intercellular junctions, cytoplasmic intermediate filaments, well-developed rough and smooth endoplasmic reticulum and Golgi apparatus, cilia, and neurosecretory granules. The other neoplasm showed pools of glycogen, desmosomes, and tonofilaments. This polyphenotype raises the issue that these may represent variants of MRT or the atypical teratoid-rhabdoid tumor, the morphologic findings in the two cases were very dissimilar. These two cases underscore the problems in nosology and classification of polyphenotypic tumors of the CNS. They review the literature on polyphenotypic tumors and reiterate the difficulties in precise classification of these complex tumors.
  • Burger PC; Yu I, Tihan T, et al (1998). "Atypical teratoid rhaboid tumors of the central nervous system: a highly malignant tumor of infancy and childhood frequently mistaken for medulloblatoma: a Pediatric Oncology Group Study." (in English). Am J Surg Pathol 1998 (22:): 1083-92. This is a review of 55 patients diagnosed with AT/RTs to define this disease both clinically and pathologically.

It has been suggested that this article or section be merged into brain tumor. ... X-Ray of a child with Ewings sarcoma of the tibia Ewings sarcoma is the common name for primitive neuroectodermal tumor. ... A diagram showing the CNS: 1. ... Diagram indicating location of the SNF2 Subfamily of proteins and their relative similarity with other proteins organized by their conservation of NTP-binding motifs. ...

What is the cause of the AT/RT tumors?

The cause is unknown.


AT/RT Genetic Information

Genetic similarities have been found within these rhabdoid tumors. In particular the chromosomal 22 deletion is very common in AT/RTs. This Chromosome 22 area contains the hSNF5/INI1 gene that appears to function as a classic tumor suppressor gene. Most rhabdoid tumors have INI1 deletions whether the occur in the CNS, Kidney or elsewhere. This mutation is viewed as the “first hit” which predisposes these children to malignancies. INI1/hSNF5, a component of the chromatin remodeling SWI/SNF complex, is a critical tumor suppressor biallelically inactivated in rhabdoid tumors. Identification of INI1 as a tumor suppressor has facilitated accurate diagnosis of rhabdoid tumors. DNA, the molecular basis for inheritance. ... Tumor (American English) or tumour (British English) originally means swelling, and is sometimes still used with that meaning. ... Figure 1: A representation of a condensed eukaryotic chromosome, as seen during cell division. ... 22q11. ... Chromosome 22 is one of the 23 pairs of chromosomes in humans. ... A tumor suppressor gene is a gene that reduces the probability that a cell in a multicellular organism will turn into a tumor cell. ... For a non-technical introduction to the topic, see Introduction to Genetics. ... It has been suggested that mutant be merged into this article or section. ... In medicine, malignant is a clinical term that means to be severe and become progressively worse, as in malignant hypertension. ...


The rate of transcription for SWI/SNF and HDAC complexes seem to be regulated by the INI1 gene. The SWI/SNF complex plays a role in chromatin remodeling. AT/RT is the first pediatric brain tumor for which a candidate tumor suppressor gene has been identified. A mutation or deletion in the INI1/hSNF5 gene occurs in the majority of AT/RT tumors. Up to 90% of AT/RT cases involve 22 deletion. This is mainly point mutations on the hSNF5/INI1 gene (i.e., one can diagnosis AT/RT without a chromsome 22 deletion elsewhere). The hSNF5/INI1 gene regulates 15 or so proteins in the chromintin structure. In addition, the OPN gene has a higher expression in AT/RT tumors. It is increasingly believed that the reason that 100% of the AT/RT cancers are not associated with the hSNF5/INI1 gene is that there 14 additional proteins in the chromintin structure that are controlled by other genes. There are also some emerging mouse models of the AT/RT cancer as well as experimental cell lines derived from tumors. Despite these advances, the function of the gene is not yet understood. At the present time, there is not enough known about the function of INI1, either as an independent modulator of gene expression or through its association with the SWI/SNF complex, to be able to use specific targeted biological agents for treatment. Prospective clinical and biologic trials are greatly needed to understand the efficacy of therapeutic interventions, as well as the role of the gene. A micrograph of ongoing gene transcription of ribosomal RNA illustrating the growing primary transcripts. ... Histone deacetylases (HDAC) are a class of enzymes that remove acetyl groups from an ε-N-acetyl lysine amino acid on a histone. ... For a non-technical introduction to the topic, see Introduction to Genetics. ... Chromatin is the complex of DNA and protein found inside the nuclei of eukaryotic cells. ... 22q11. ... Diagram indicating location of the SNF2 Subfamily of proteins and their relative similarity with other proteins organized by their conservation of NTP-binding motifs. ... Diagram indicating location of the SNF2 Subfamily of proteins and their relative similarity with other proteins organized by their conservation of NTP-binding motifs. ... Diagram indicating location of the SNF2 Subfamily of proteins and their relative similarity with other proteins organized by their conservation of NTP-binding motifs. ...

  • Haberler C.; Laggner U, Slavc I, Czech T, Ambros IM, Ambros PF, Budka H, Hainfellner JA. (Nov, 2006). "Immunohistochemical analysis of INI1 protein in malignant pediatric CNS tumors: Lack of INI1 in atypical teratoid/rhabdoid tumors and in a fraction of primitive neuroectodermal tumors without rhabdoid phenotype" (in English). Am J Surg Pathol. 30 ((11)): 1362 - 68. Medical University Vienna, Vienna, Austria. Immunohistochemical lack of nuclear INI1 protein expression has been recently described as characteristic finding in atypical teratoid/rhabdoid tumors (AT/RTs), and has been suggested as useful marker to distinguish AT/RTs from other malignant pediatric central nervous system (CNS) tumors. In this study, the authors 289 malignant pediatric CNS tumors to determine the immunohistochemical expression of INI1 protein in different malignant pediatric tumor entities. Archival paraffin-embedded biopsy specimens of 289 malignant pediatric CNS tumors including medulloblastomas, supratentorial primitive neuroectodermal tumors, glioblastomas, anaplastic astrocytomas, anaplastic ependymomas, choroid plexus carcinomas, germ cell tumors, and AT/RTs were analyzed immunohistochemically for expression of nuclear INI1 protein. Positive INI1 staining was observed in 263 tumors. Lack of INI1 protein was detectable in 26 tumors. Seventeen of the 26 tumors showed morphologically characteristic features of AT/RTs, whereas 9 embryonal tumors did not display rhabdoid features. Tumors without rhabdoid phenotype but lack of INI1 showed an aggressive clinical course and poor response to conventional treatment regimens. In summary, immunohistochemical expression of INI1 protein is lacking in tumors displaying characteristic morphologic features of AT/RT. Furthermore, a certain number of embryonal tumors without rhabdoid features but lack of INI1 protein and aggressive biologic behavior can be detected. We conclude that INI1 protein analysis should be routinely performed in all malignant pediatric embryonal CNS tumors to detect cases with lack of INI1 protein, because patients with these tumors are likely to benefit from intensified treatment.
  • Judkins, AR; Burger PC, Hamilton RL, Kleinschmidt-DeMasters B, Perry A, Pomeroy SL, Rosenblum MK, Yachnis AT, Zhou H, Rorke LB, Biegel JA. (May, 2005). "INI1 protein expression distinguishes atypical teratoid/rhabdoid tumor from choroid plexus carcinoma". J Neuropathol Exp Neurol. 64: 391 - 97. University of Pennsylvania - Central nervous system atypical teratoid/rhabdoid tumor (AT/RT) and choroid plexus carcinoma (CPC) are rare, highly malignant tumors that predominantly arise in infants and young children. Overlapping clinical, histologic, ultrastructural, or immunophenotypic features may obscure the diagnosis in some cases. AT/RT is characterized by deletions and/or mutations of the INI1 tumor-suppressor gene on chromosome band 22q11.2. The authors recently developed an INI1 immunohistochemical staining assay. Negative staining of tumor cells resulting from inactivation of the INI1 gene is a consistent feature of AT/RT. Mutations of INI1 in some CPCs have been reported. The purpose of the present study was to determine if immunohistochemical staining with an INI1 antibody would provide a sensitive means of distinguishing between CPC and AT/RT. We examined 28 tumors with a submitted diagnosis of CPC. Twenty-one CPCs showed retained expression of INI1 and seven tumors showed loss of INI1 expression. Cytogenetic, FISH, and/or INI1 mutation results were also available for 13 tumors. In three of the seven cases, monosomy 22 was the only cytogenetic abnormality, suggestive of AT/RT. However, monosomy 22 was also identified in 3 tumors with complex karyotypes that retained INI1 expression. The 7 tumors that were immunonegative for INI1 had features that were consistent with AT/RT. Immunostaining for INI1 protein is retained in the majority of CPC and is lost in AT/RT. This expression pattern seems to better define the 2 groups of tumors than does light or electron microscopy, routine immunohistochemistry, or cytogenetic analysis alone.
  • Perry, Fuller, A. CE; Judkins AR, Dehner LP, Biegel JA (July, 2005). "INI1 expression is retained in composite rhabdoid tumors, including rhabdoid meningiomas". Mod Pathol. 18. Department of Pathology, Washington University School of Medicine - Abstract. Rhabdoid cells are encountered in specific entities, such as malignant rhabdoid tumor and atypical teratoid/rhabdoid tumor, as well as in composite rhabdoid tumors derived secondarily from other tumor types. The majority of malignant rhabdoid tumors and atypical teratoid/rhabdoid tumors affect infants and young children, harbor chromosome 22q deletions, and inactivate the INI1/hSNF5/BAF47 tumor suppressor gene on 22q11.2. In contrast, most composite rhabdoid tumors are diagnosed in adults, with FISH detectable 22q losses the exception rather than the rule. Therefore, we utilized immunohistochemistry and FISH to study INI1 expression and 22q dosages, respectively, in 40 composite rhabdoid tumors, including 16 meningiomas, 15 carcinomas, three melanomas, two sarcomas, two glioblastomas, and 1 neuroblastoma. Approximately 70% of rhabdoid meningiomas had a 22q deletion, but this was rare in other tumor types. Except for one retroperitoneal leiomyosarcoma, nuclear INI1 expression was retained in all composite rhabdoid tumors, including meningiomas with 22q deletion. Therefore, we conclude that INI1 immunohistochemistry is a relatively simple, sensitive, and specific technique for distinguishing malignant rhabdoid tumor and atypical teratoid/rhabdoid tumor from composite rhabdoid tumor.
  • Chung-Lan Kao; Shih-Hwa Chiou, Yann-Jang Chen, Sher Singh, Han-Tso Lin, Ren-Shyan Liu, Chih-Wen Lo, Chi-Chang Yang, Chin-Wen Chi, Chen-hsen Lee, and Tai-Tong Wong (March 18, 2005). "Increased expression of osteopontin gene in atypical teratoid/rhabdoid tumor of the central nervous system" (in English). Modern Pathology (2005) (18): 769-778. The osteopontin gene was found specifically upregulated in atypical teratoid/rhabdoid tumor cells. This specificity was confirmed by immunohistochemistry in pathological sections of tissues from atypical teratoid/rhabdoid tumor patients. Even though the role of osteopontin in the cytopathogenesis of atypical teratoid/rhabdoid tumor still needs to be determined, our data support that overexpressed osteopontin is a potential diagnostic marker for atypical teratoid/rhabdoid tumor.
  • D. C. Shing; N. Colemanf (February, 2003). "Cytogenetic abnormalities in solid tumours of childhood" (in English). Current Diagnostic Pathology (1:): 39-47. 
  • Beigel J; Kalpana G, Knudsen E, et al. (2002). "The role of INI and the SWI/SNF complex in the development of rhabdoid tumors: Meeting Summary from the workshop on childhood atypical teratoid rhabdoid tumors" (in English). Cancer Research 2002 (63:): 323-328. 
  • Morley E. (2002). "[www.sas.upenn.edu/~emorley FISH as a Diagnostic Tool on Childhood Cancer]" (in English). This paper discussing the utilization of fluoresecene in situ bybridization (FISH) as a diagnostic tool has a very good introduction into childhood cancer and brain tumors.
  • Huret, J.; Sevenet N. (2002). "Rhabdoid predispostion syndrome". Atlas of Genetics and Cytogenetics in Oncology and Haematology. The Atlas of Genetics and Cytogenetics in Oncology and Haematology is a peer reviewed on-line journal and database in free access on internet devoted to genes, cytogenetics, and clinical entities in cancer, and cancer-prone diseases. This particular article was last updated in 2002 and references five (5) papers.
  • Jaclyn A. Biegel,; Lu Tan, Fan Zhang, Luanne Wainwright, Pierre Russo and Lucy B. Rorke (November, 2002). "Alterations of the hSNF5/INI1 Gene in Central Nervous System Atypical Teratoid/Rhabdoid Tumors and Renal and Extrarenal Rhabdoid Tumors" (in English). Clinical Cancer Research 8: 3461-3467. The study was designed to compare the types of INI1 alterations among tumors from diverse anatomical sites and identify mutation hot spots. Fluorescence in situ hybridization and PCR-based microsatellite, heteroduplex, and sequence analysis were used to characterize chromosome 22 deletions and INI1 mutations among 100 primary rhabdoid tumors. Deletions and/or mutations of INI1 were detected in 75 patients, including 42 children with atypical teratoid/rhabdoid tumors of the brain or spinal cord and 6 children with a brain and a renal or soft-tissue tumor. Nineteen tumors arose in the kidney (in one child, bilaterally) and eight tumors were extra-renal. Homozygous deletions detected by fluorescence in situ hybridization were most often seen in CNS and extra-renal rhabdoid tumors, whereas truncating mutations were detected in a high percentage of CNS and kidney tumors.
  • Fuller MD, Christine E.; ohn Pfeifer MD, PhD, Peter Humphrey MD, Leslie A. Bruch MD, Louis P. Dehner MD and Arie Perry MD (October, 2001). "Chromosome 22q dosage in composite extrarenal rhabdoid tumors: Clonal evolution or a phenotypic mimic?". Human Pathology 32 (10). Like the classic renal and extrarenal malignant rhabdoid tumor (MRT), as well as the atypical teratoid/rhabdoid tumor (AT/RT) of the central nervous system, CERTs typically show aggressive clinical behavior. Deletions and mutations of the INII gene on 22q11.2 have been identified in most classic MRTs and AT/RTs. The authors studied 4 cases of MRT, 13 of AT/RT, and 16 of CERT (3 melanoma, 4 meningioma, 7 carcinoma, 1 rhabdomyosarcoma, and 1 neuroblastoma). Deletion of the 22q11.2 locus was demonstrated in 10 (77%) of 13 AT/RTs and 3 (75%) of 4 MRT, including 1 congenital MRT. Of the 16 CERTs, only 2 (a rhabdoid meningioma and a carcinoma with rhabdoid features; 13%) harbored a deletion at this locus. We conclude that deletion of 22q11.2, typical of most classic MRTs and AT/RTs, is infrequently seen in CERTs. This suggests that the rhabdoid component of CERTs does not evolve by way of the genetic alteration characteristic of MRTs or AT/RTs, but represents instead a distinct phenotype shared by a number of tumors as they undergo anaplastic progression.
  • Huret, Jean-Loop (March, 1999). "SMARCB1 (SW1/SNF related, matrix associated, actin dependent regulator of chromatin B1)". Atlas of Genetics and Cytogenetics in Oncology and Haematology. The Atlas of Genetics and Cytogenetics in Oncology and Haematology is a peer reviewed on-line journal and database in free access on internet devoted to genes, cytogenetics, and clinical entities in cancer, and cancer-prone diseases. This particular article was last updated in 1999 and references seven (7)genetic papers on INI1/hSNF5.

A metaphase cell positive for the bcr/abl rearrangement using FISH. The chromosomes can be seen in blue. ...

How common are AT/RTs?

In 2000 approximately 2.76 children per 100,000 will be affected by a CNS tumor in the United States each year. This rate has been increasing and by 2005 was 3.0 children per 100,000. This is approximately 2,500-3,000 pediatric brain tumors occurring each year in the US. It has been estimated that 3% of these pediatric brain tumors are AT/RTs although this percentage may increase as there is better differentiation between PNET/medulloblastoma tumors and AT/RTs. Finally, it should be noted that the tumor incidence is increasing by about 2.7% per year. A brain tumor is any intracranial tumor created by abnormal and uncontrolled cell division, normally either found in the brain itself (neurons, glial cells (astrocytes, oligodendrocytes, ependymal cells), lymphatic tissue, blood vessels), in the cranial nerves (myelin-producing Schwann cells), in the brain envelopes (meninges), skull, pituitary and pineal gland... A brain tumor is any mass created by an abnormal and uncontrolled growth of cells either found in the brain (neurons, glial cells, epithelial cells, myelin producing cells, etc. ...


The CNS Cancer survival rate in children is approximately 60% (See Table 11.2 Survival Rate. However, this rate varies with the age of onset (younger has higher mortality) and cancer type. A 2005 survey See Figure 1 of AR/TR patients at St. Jude Children's Hospital showed a 11% survival rate for patients < 3 years old and an over 70% survival rate for patients > 3 years old. This is based on 37 AT/RT patients treated at Saint Jude's from 1984 to 2003. A diagram showing the CNS: 1. ... St. ...

  • Morley E. (2001). "[www.sas.upenn.edu/~emorley FISH as a Diagnostic Tool on Childhood Cancer]" (in English). This paper discussing the utilization of fluoresecene in situ bybridization (FISH) as a diagnostic tool has a very good introduction to childhood cancer and brain tumors.

A metaphase cell positive for the bcr/abl rearrangement using FISH. The chromosomes can be seen in blue. ...

How do AT/RT tumors look on radiologic exam?

  • Location

AT/RTs can occur at any sites within the Central Nervous System (CNS), however approximately 60% are located in the posterior fossa area/Cerebellum area. An ASCO study by Dr. Kieran showed 52% posterior fossa (PF); 39% sPNET (supratentorial primitive neuroectodermal tumors); 5% pineal; 2% spinal, and 2% multi-focal. Tumor (American English) or tumour (British English) originally means swelling, and is sometimes still used with that meaning. ... A diagram showing the CNS: 1. ... To meet Wikipedias quality standards, this article or section may require cleanup. ... Figure 1a: A human brain, with the cerebellum in purple. ... In anatomy the supratentorial is located above the tentorium cerebri. ... The pineal gland (also called the pineal body or epiphysis) is a small endocrine gland in the brain. ... Spinal tumors are located in the spinal cord and are mostly metastases from primary cancers elsewhere (commonly breast, prostate and lung cancer). ...

  • Appearance

The tumors’ appearance on CT and MRI are nonspecific tending towards large size, calcifications, necrosis (tissue death),and hemorrhage (bleeding). Radiological studies alone cannot identify AT/RT. A pathologist almost always has to evaluate a brain tissue sample. This article does not cite its references or sources. ... Magnetic Resonance Image showing a median sagittal cross section through a human head. ... Metastatic calcification is deposition of calcium salts in otherwise normal tissue, because of elevated levels of calcium and other minerals in blood because of deranged metabolism, synthesis or disposal. ... Necrosis (in Greek Νεκρός = Death) is the name given to accidental death of cells and living tissue. ...


Technical Information- CT Scans- The increased cellularity of the tumor may make the appearance on an uncontrasted CT to have increased attenuation. Solid parts of the tumor often enhance with contrast MRI Scans- Finding on T1 and T2 weighted images are variable. Pre-contrast T2 weighted images may show an iso-signal or slightly hyper-signal. Solid components of the tumor may enhance with contrast but do not always. MRI studies appear to be more able to pick up metastatic foci in other intracranial locations as well as intraspinal locations. This article does not cite its references or sources. ... Magnetic Resonance Image showing a median sagittal cross section through a human head. ... Relaxation in the topic of Nuclear magnetic resonance (NMR) and Magnetic resonance imaging (MRI) phenomenology, describes the evolution of magnetizations separately in two directions: longitudinal relaxation: The part of the magnetization vector M that is parallel to the main magnetic field B0 is usually called longitudinal magnetization, designated as Mz. ... Magnetic Resonance Image showing a median sagittal cross section through a human head. ... Metastasis (Greek: change of the state) is the spread of cancer from its primary site to other places in the body. ...

  • Follow-up

Preoperative and followup studies are needed to detect metastatic disease. Metastasis (Greek: change of the state) is the spread of cancer from its primary site to other places in the body. ...

  • Kieran MD, Ph.d, Mark W. (2006). "An Update on Germ Cell Tumors, Atypical Teratoid/Rhaboid Tumors, and Choroid Plexus Tumors Rare Tumors 3: Brain Tumors---Germ Cell Tumors, Atypical Teratoid/Rhabdoid Tumors, and Choroid Plexus Tumors". American Society of Clinical Oncology Education Book. Retrieved on May 20, 2007. This is an online presentation summarizing AT/RT Research as of 2006 and announcing the first prospective AT/RT Treatment study. The author notes that 188 AT/RT cases have been reported in the literature from 1985 to 2004. The current four long-term survivors (4-to-6 years) had very aggressive chemotherapy and radiation. Dr. Keiran notes that the AT/RT chemical agents are very toxic and can cause death by themselves.
  • Y. C. Cheng; J. F. Lirng; F. C. Chang; W. Y. Guo; M. M. H. Teng; C. Y. Chang; T. T. Wong; D. M. T. Ho (February, 2005). "Neuroradiological Findings in Atypical Teratoid/Rhabdoid Tumor of the Central Nervous System" (in English). Acta Radiologica 46 (1): 89 - 96. Retrospectively valuated the computed tomography (CT) and magnetic resonance imaging (MRI) findings of atypical teratoid tumor/rhabdoid tumor (AT/RT) of the central nervous system (CNS). Twenty cases of CNS AT/RT have been found over the past 23 years in General Hospital, Taipei; these involving 11 boys and 9 girls whose mean age at diagnosis was 5.5 years. AT/RT was located in the cerebellum in 15 cases. Four cases arose from the supratentorial region, while only one occurred primarily in the lumbar spinal cord. Almost all cases revealed heterogeneous intensity and heterogeneous enhancement. Peripheral cystic components were common. Survival time ranged from 2 months to 3 years, with a mean survival of 11.6 months. Conclusion: Most cases of AT/RT are located in the cerebellum. The radiologic manifestations are non-specific. The diagnosis mainly depends on the pathologic findings. However, AT/RT should still remain in the differential diagnosis of brain tumors in young children, especially those located in the cerebellar hemisphere and with eccentric cysts.
  • Atilla Arslanoglu; Nafi Aygun, Deapak Tekhtani, Leslie Aronson, Peter C. Burger, and David M. Yousem, Ken Cohen (2004). "Imaging Findings of CNS Atypical Teratoid/Rhabdoid Tumors" (in English). AJNR Am J Neuroradiol 25: 476-480. Case report, full article available. We analyzed the size, location, composition, enhancement, and invasion patterns of the tumors. One male and three female patients were included, they had a median survival of 5 months. In one study from Taiwan, the ratio of atypical teratoid/rhabdoid tumor to primitive neuroectodermal tumor was found to be 1:3.8 among patients younger than 3 years and 1:11 for all age groups (3). Almost all the posterior fossa atypical teratoid/rhabdoid tumor cases in the largest two series, which included 100 patients, were initially diagnosed as primitive neuroectodermal tumor. This confusion occurs because only a minority of atypical teratoid/rhabdoid tumors has predominance of typical rhabdoid cells (the histologic hallmark of atypical teratoid/rhabdoid tumor), whereas 70% of atypical teratoid/rhabdoid tumors contain fields indistinguishable from primitive neuroectodermal tumor. Atypical teratoid/rhabdoid tumor shows characteristic immunohistochemical features, which tend to aid in the differentiation of atypical teratoid/rhabdoid tumor from primitive neuroectodermal tumor. These features include epithelial membrane antigen, vimentin, and smooth muscle actin positivity. More recently, cytogenetic abnormalities have allowed for improved diagnostic classification. Monozomy 22 or deletions ofchromosome band 22q11 with alterations of the hSNF5/INI1 gene are shown in patients with atypical teratoid/rhabdoid tumors. Bulky, heterogeneous masses with calcifications, eccentric cysts, and off-midline location in the posterior fossa in children younger than 2 years should alert the radiologist to the possibility of atypical teratoid/rhabdoid tumor in the differential diagnosis of the mass.
  • D. M.-T. Ho; C.-Y. Hsu, T.-T. Wong, L.-T. Ting, H. Chiang (2000). "Atypical teratoid/rhabdoid tumor of the central nervous system: a comparative study with primitive neuroectodermal tumor/medulloblastoma - Abstract" (in English). Acta Neuropathologica (99): 482-488. Abstract, must purchase article. Eleven atypical teratoid/rhabdoid tumors (AT/¶RT) and 121 primitive neuroectodermal tumors/medulloblastomas (PNET/MB) were included in this study for evaluation of the histopathological features of AT/RT and comparison between AT/RT and PNET/MB. Histopathological studies of AT/RT showed that in addition to the commonly recognized components, i.e., rhabdoid cells, small (PNET/MB) cells, spindle cells and epithelial components, there was a previously unrecognized component, sickle-shaped embracing cells, which were present in all cases and could be useful as a histological marker of this tumor. Immunohistochemical studies showed divergent differentiation of the tumor cells and among the 16 antibodies studied, vimentin, neuron-specific enolase, epithelial membrane antigen and glial fibrillary acidic protein were most commonly reactive. The frequency of AT/RT expressed as a ratio of AT/RT to PNET/MB was 1 : 11 in general and increased to 1 : 3.8 among patients younger than 3 years old.
  • Yoon CS; Chuang S. Jay V (2000). "Primarily malignant rhabdoid tumors of the brain: CT and MRI findings" (in English). Yonsei Med J 2000 (4:): 8-16. A restrospective evaluation of the radiologic appearance of 5 tumors.
  • Zuccoli G; Izzi G, Baccinin E, et al (1999). "Central nervous system atypical teratodi/rhabdoid tumors of infancy CT and MR finding" (in English). Clinical Imaging 1999 (23:): 356-60. 
  • Howelett DC.; King, AP, Jarosz JM, et al (1997). "Imaging and patholoigc features of primary malignant rhabdoid tumors of the brain and spine" (in English). Neuroradiaology 1997 (39:): 719-23. A description of two cases.

What are the clinical features of AT/RT?

Age

This is a tumor primarily of young children and infants. A Pediatric Oncology Group study reported the average age at diagnosis to be 17 months. The ASCO study of the 188 documented AT/RT cases prior to 2004 showed 173 cases < 5 years and 15 cases > 5 years. It should be noted that children older than three have been diagnosed with this tumor. In addition, a med-line search revealed four adults between the ages of 20 and 30 whose brain tumors have been classified as atypical/teratoid rhabdoid tumors.

  • Kieran MD, Ph.d, Mark W. (2006). "An Update on Germ Cell Tumors, Atypical Teratoid/Rhaboid Tumors, and Choroid Plexus Tumors Rare Tumors 3: Brain Tumors---Germ Cell Tumors, Atypical Teratoid/Rhabdoid Tumors, and Choroid Plexus Tumors". American Society of Clinical Oncology Education Book. Retrieved on May 20, 2007. This is an online presentation summarizing AT/RT Research as of 2006 and announcing the first prospective AT/RT Treatment study. The author notes that 188 AT/RT cases have been reported in the literature from 1985 to 2004. The current four long-term survivors (4-to-6 years) had very aggressive chemotherapy and radiation. Dr. Keiran notes that the AT/RT chemical agents are very toxic and can cause death by themselves.
  • Burger PC; Yu I, Tihan T, et al (1998). "Atypical teratoid rhaboid tumors of the central nervous system: a highly malignant tumor of infancy and childhood frequently mistaken for medulloblatoma: a Pediatric Oncology Group Study" (in English). Am J Surg Pathol 1998 (22:): 1083-92. This is a review of 55 patients diagnosed with AT/RTs to define this disease both clinically and pathologically.
  • Chang HK; Kim JH (2001). "Classical malignant rhabodid tumors of central nervous system in 9-year-old Korean" (in English?). Yonsei Med J 2001 (42:): 142-146. 
  • Ashraf R; Bently RC, Awan AN (1997). "Implantation metstasis of primary malignant rhabdoid tumors of the brain in an adult (one case report)" (in English). Med Pediatr Oncol (28:): 223-7. 
  • Arrazola J; Pedrosa I, Mendez R et al (2000). "Primary malignant rhabdoid tumour of the brain in an adult" (in English). Neuroradiology 2000 (42:): 363-7. 
  • Lutterbach J.; Liegibel J, Koch D. (2001). "Atypical teratodi/rhabdoid tumors in adult patients: case report and a review of the literature" (in English). J Neurooncol 2001 (52:): 49-56. 
  • Sugita Y; Takahashi Y, Hayashi I. (1999). "Pineal malignant rhabdoid tumor with chondroid formation in an adult" (in English). Path Int 1999 (49:): 1114-8. 

Presentation

The clinical presentation depends on the locations of the tumor. Since many of the tumors occur in the posterior fossa they present like other posterior fossa tumors- headache, vomitting, lethargy, and ataxia (unsteady gait). There is a case report by Tamiya and associates of a 7 month old child with a primarily spinal tumor that presented with progressive paraplegia and abnormal feeling in the legs. To meet Wikipedias quality standards, this article or section may require cleanup. ... A headache (cephalalgia in medical terminology) is a condition of pain in the head; sometimes neck or upper back pain may also be interpreted as a headache. ... Vomiting (or emesis) is the forceful expulsion of the contents of ones stomach through the mouth. ... “Fatigue (physical)” redirects here. ... Ataxia (from Greek ataxiā, meaning failure to put in order) is unsteady and clumsy motion of the limbs or torso due to a failure of the gross coordination of muscle movements. ... Spinal tumors are located in the spinal cord and are mostly metastases from primary cancers elsewhere (commonly breast, prostate and lung cancer). ... Paraplegia is a condition in which the lower part of a persons body is paralyzed and cannot willfully function. ... In common usage, a human leg is the lower limb of the body, extending from the hip to the ankle, and including the thigh, the knee, and the cnemis. ...

  • Tamiya t.; Nakashima H, Ono Y, et al. (2000). "Spinal atypical teratoid/rhabdoid tumor in an infant" (in English). Pediatr Neurosurg 2000 (32:): 145-9. 

Location

The tumors can be located anywhere within the CNS including the spinal cord. Approximately 60% will be in the posterior fossa/cerebellar area. The ASCO study by Dr. Kieran showed 52% posterior fossa (PF); 39% sPNET (supratentorial primitive neuroectodermal tumors); 5% pineal; 2% spinal, and 2% multi-focal. A diagram showing the CNS: 1. ... The Spinal cord nested in the vertebral column. ... To meet Wikipedias quality standards, this article or section may require cleanup. ... Figure 1a: A human brain, with the cerebellum in purple. ... In anatomy the supratentorial is located above the tentorium cerebri. ... The pineal gland (also called the pineal body or epiphysis) is a small endocrine gland in the brain. ... Spinal tumors are located in the spinal cord and are mostly metastases from primary cancers elsewhere (commonly breast, prostate and lung cancer). ...

  • Kieran MD, Ph.d, Mark W. (2006). "An Update on Germ Cell Tumors, Atypical Teratoid/Rhaboid Tumors, and Choroid Plexus Tumors Rare Tumors 3: Brain Tumors---Germ Cell Tumors, Atypical Teratoid/Rhabdoid Tumors, and Choroid Plexus Tumors". American Society of Clinical Oncology Education Book. Retrieved on May 20, 2007. This is an online presentation summarizing AT/RT Research as of 2006 and announcing the first prospective AT/RT Treatment study. The author notes that 188 AT/RT cases have been reported in the literature from 1985 to 2004. The current four long-term survivors (4-to-6 years) had very aggressive chemotherapy and radiation. Dr. Keiran notes that the AT/RT chemical agents are very toxic and can cause death by themselves.
  • David Grubin, Production (2002). "Secrets of the Brain: 3D Brain Anatomy". PBS. Retrieved on May 29, 2007. 3D Flash application outlines major brain areas. The five-part series, which will premiered nationally on PBS in winter 2002, reveals the fascinating processes involved in brain development across a lifetime

May 29 is the 149th day of the year (150th in leap years) in the Gregorian calendar. ...

Male to Female Ratio

As with other CNS tumors, slightly more males are affected than females (ratio 1.6:1). Mark Kieran's summary of the 188 documented AT/RT cases (all prior to 2004) showed a 1.4:1 male to female ratio. A brain tumor is any intracranial tumor created by abnormal and uncontrolled cell division, normally either found in the brain itself (neurons, glial cells (astrocytes, oligodendrocytes, ependymal cells), lymphatic tissue, blood vessels), in the cranial nerves (myelin-producing Schwann cells), in the brain envelopes (meninges), skull, pituitary and pineal gland...

  • Kieran MD, Ph.d, Mark W. (2006). "An Update on Germ Cell Tumors, Atypical Teratoid/Rhaboid Tumors, and Choroid Plexus Tumors Rare Tumors 3: Brain Tumors---Germ Cell Tumors, Atypical Teratoid/Rhabdoid Tumors, and Choroid Plexus Tumors". American Society of Clinical Oncology Education Book. Retrieved on May 20, 2007. This is an online presentation summarizing AT/RT Research as of 2006 and announcing the first prospective AT/RT Treatment study. The author notes that 188 AT/RT cases have been reported in the literature from 1985 to 2004. The current four long-term survivors (4-to-6 years) had very aggressive chemotherapy and radiation. Dr. Keiran notes that the AT/RT chemical agents are very toxic and can cause death by themselves.
  • Morley E. (2001). "[www.sas.upenn.edu/~emorley FISH as a Diagnostic Tool on Childhood Cancer]" (in English). This paper discussing the utilization of fluoresecene in situ bybridization (FISH) as a diagnostic tool has a very good introduction into childhood cancer and brain tumors. Alas, the URL link is broken.

A metaphase cell positive for the bcr/abl rearrangement using FISH. The chromosomes can be seen in blue. ...

Diagnostic Workup

The standard Work-up for AT/RT includes the following procedures:

  • BMA (Bone Marrow Asperant) to check for bone tumors. Often a doctor will want perform a Stem Cell Transplant. More specifically, he will harvest the patient's stem cells, prescribe an intense chemotherapy (that kills most stem cells) and then performs a subsequent transplant of the patient's previously harvested Stem Cells.

The initial diagnosis of a tumor is made with a radiographic study (MRI or CT-). If CT was performed first, a MRI is usually performed as the images are often more detailed and may reveal previously undetected metastatic tumors in other locations of the brain. In addition, a MRI of the spine is usually performed. The AT/RT tumor often spreads to the spine. It is difficult to diagnosis AT/RT only from radiographic study. Usually a pathologist must perform a cytological or genetic analysis. Magnetic Resonance Image showing a median sagittal cross section through a human head. ... Italic text // ahh addiing sum spiice iin hurr`` For other uses, see Brain (disambiguation). ... Look up spine on Wiktionary, the free dictionary. ... A patient undergoes a lumbar puncture at the hands of a neurologist. ... This article does not cite its references or sources. ... A bone marrow biopsy is a medical procedure used as part of a test in the diagnosis of several conditions including leukemia. ... A bone marrow biopsy is a medical procedure used as part of a test in the diagnosis of several conditions including leukemia. ... Drawing shows patient lying on a table that slides under the scanner, a technician operating the scanner, and a monitor that will show images made during the scan. ... Tumor or tumour literally means swelling, and is sometimes still used with that meaning. ... Radiography is the use of ionising electromagnetic radiation to view objects. ... Magnetic Resonance Image showing a median sagittal cross section through a human head. ... This article does not cite its references or sources. ... Metastasis (Greek: change of the state) is the spread of cancer from its primary site to other places in the body. ... Tumor (American English) or tumour (British English) originally means swelling, and is sometimes still used with that meaning. ... Italic text // ahh addiing sum spiice iin hurr`` For other uses, see Brain (disambiguation). ... Magnetic Resonance Image showing a median sagittal cross section through a human head. ... The vertebral column seen from the side Different regions (curvatures) of the vertebral column The vertebral column (backbone or spine) is a column of vertebrae situated in the dorsal aspect of the abdomen. ... Tumor or tumour literally means swelling, and is sometimes still used with that meaning. ...


Examination of the cerebral spinal fluid is important as 1/3 of these patients will have intracranial dissemination with involvement of the CSF (cerebral spinal fluid). Lu reported the most consistent finding were large tumor cells, eccentricity of the nuclei and prominent nucleoli. Interestingly usually only a minority of AT/RT biopsies have Rhabdoid cells. This makes diagnosis more difficult. Increasingly deletions in INI1/hSNF5 gene are looked for. Cerebrospinal fluid (CSF), Liquor cerebrospinalis, is a clear bodily fluid that occupies the subarachnoid space in the brain (the space between the skull and the cerebral cortex—more specifically, between the arachnoid and pia layers of the meninges). ... Cerebrospinal fluid (CSF), Liquor cerebrospinalis, is a clear bodily fluid that occupies the subarachnoid space in the brain (the space between the skull and the cerebral cortex—more specifically, between the arachnoid and pia layers of the meninges). ...

  • Kieran MD, Ph.d, Mark W. (2006). "An Update on Germ Cell Tumors, Atypical Teratoid/Rhaboid Tumors, and Choroid Plexus Tumors Rare Tumors 3: Brain Tumors---Germ Cell Tumors, Atypical Teratoid/Rhabdoid Tumors, and Choroid Plexus Tumors". American Society of Clinical Oncology Education Book. Retrieved on May 20, 2007. This is an online presentation summarizing AT/RT Research as of 2006 and announcing the first prospective AT/RT Treatment study. The author notes that 188 AT/RT cases have been reported in the literature from 1985 to 2004. The current four long-term survivors (4-to-6 years) had very aggressive chemotherapy and radiation. Dr. Keiran notes that the AT/RT chemical agents are very toxic and can cause death by themselves.
  • Anil V. Parwani, M.D., Ph.D.; Edward B. Stelow, M.D.; Stefan E. Pambuccian, M.D.; Peter C. Burger, M.D.; Syed Z. Ali, M.D. (April 25, 2005). "Atypical Teratoid/Rhabdoid Tumor of the Brain Cytopathologic Characteristics and Differential Diagnosis" (in English). CANCER (CANCER CYTOPATHOLOGY) 105: 65-70. The authors describe the clinicoradiologic and cytomorphologic features of nine cases of AT/RT (1993-2002), with emphasis on their unique morphologic appearance; then, the differential diagnosis is discussed based on the anatomic location and the patient’s age. Cytologic examination by SS, SP, or FNA offers a useful alternative to frozen section during intraoperative consultation. Cytomorphologic features are unique and lead to an accurate diagnosis in the right clinicoradiologic context. The differential diagnosis includes medulloblastoma (in cerebellar tumors), primitive neuroectodermal tumor (in suprasellar tumors), choroidplexus carcinoma, and malignant glioma.
  • Lu L.; Wilkinson EJ, Yachinis AT (2000). "CSF cytology of atypical teratoid/rhaboid tumors of the brain in a two-year-old girl: a case report" (in English). Diagn Cytopathol 2000 (23:): 329-32. 

Metastasis

Spread is noted in approximately 1/3 of the AT/RT cases at the time of diagnosis and tumors can occur anywhere throughout the Central Nervous System(CNS). In the ASCO study by Dr. Kieran of the 188 documented AT/RT cases prior to 2004; he found 30% of the cases had mets (metastasis) at diagnosis. Metastatic spread to the Meninges (leptomenigeal spread sometimes referred to as sugar coating) is very common both initially and with relapse. Average survival times decline when there is metastasis. Primary CNS tumors metastasize only within the CNS.
Metastasis (Greek: change of the state) is the spread of cancer from its primary site to other places in the body. ... A diagram showing the CNS: 1. ... In general, a diagnosis (plural diagnoses) has two distinct dictionary definitions. ... Metastasis (Greek: change of the state) is the spread of cancer from its primary site to other places in the body. ... The meninges (singular meninx) are the system of membranes that envelop the central nervous system. ...


One case of metastatic disease to the abdomen via ventriculoperitoneal shunt has been reported with AT/RT . It should be noted that metastatic dissemination via this mechanism has been reported with other brain tumors including germinomas, medulloblastomas, astrocytomas, glioblastomas, endymomas and endodermal sinus tumors. Guler and Sugita separately reported cases of lung metastasis without a shunt. Metastasis (Greek: change of the state) is the spread of cancer from its primary site to other places in the body. ... In medicine, a shunt is a device designed to drain excess cerebrospinal fluid from the brain and carry it to other parts of the body. ... Metastasis (Greek: change of the state) is the spread of cancer from its primary site to other places in the body. ... Germinomas are neoplasia (commonly referred to as cancers or tumors) which most closely resemble germ line cells. ... It has been suggested that this article or section be merged into brain tumor. ... Astrocytomas are primary intracranial tumors derived from astrocytes cells of the brain. ... A glioma is a type of primary central nervous system (CNS) tumor that arises from glial cells. ... Ependymoma are tumors arising from the inner lining of the cerebral ventricles (= intracranial) and the remnants of the central canal in the spinal cord. ... Endodermal sinus tumor, formerly often known as yolk sac tumor, is a member of the germ cell tumor group of neoplasms. ... Metastasis (Greek: change of the state) is the spread of cancer from its primary site to other places in the body. ...

  • Kieran MD, Ph.d, Mark W. (2006). "An Update on Germ Cell Tumors, Atypical Teratoid/Rhaboid Tumors, and Choroid Plexus Tumors Rare Tumors 3: Brain Tumors---Germ Cell Tumors, Atypical Teratoid/Rhabdoid Tumors, and Choroid Plexus Tumors". American Society of Clinical Oncology Education Book. Retrieved on May 20, 2007. This is an online presentation summarizing AT/RT Research as of 2006 and announcing the first prospective AT/RT Treatment study. The author notes that 188 AT/RT cases have been reported in the literature from 1985 to 2004. The current four long-term survivors (4-to-6 years) had very aggressive chemotherapy and radiation. Dr. Keiran notes that the AT/RT chemical agents are very toxic and can cause death by themselves.
  • Rickett CH (1998). "Abdominal metastases of pediatric brain tumors via ventriculo-peritoneal shunts" (in English). Childs Nerv Syst. 1998 (14:): 10-4. A review of the literature which discusses the clinical aspects of 35 cases.
  • Newton HB; Rosenblum MK, Walker RW. (1992). "Extraneural metastases of infratentorial glioblastoma multiforme to the peritoneal cavity" (in English). Cancer (69:): 2149-53. Two cases reported with spread to the abdomen.
  • Cranston PE; Matten MT, Smith EE. (1992). "Metastatic pineoblastoma via a ventriculoperitoneal shunt: CT demonstration" (in English). Comput Med Imaging Graph (16:): 349-51. A single case is reviewed.
  • Pallini R.; Bozzini V, Scerrati M, et al (1991). "Bone metastasis associated with shunt-related peritoneal deposits from a pineal germinoma Case report and review of the literature" (in English). Acta Neurochir (Wien). 1991 (109:): 78-83. A case report of a 15 year old boy with metastatic spread by the blood and the shunt detected two months after surgery. There is a review of the literature.
  • Iwamuro Y.; Seo S, Hirose Y et al (2002). "Intrathecal and intraperitoneal germinomas occurring 20 years after total removal of a pineal teratoma. Case report" (in English). J Neurosurg. 2002 (96:): 364-7. 
  • Altundage OO; Celik I, Kars A. (2002). "Pineal germ cell tumor metastasis via ventriculoperitoneal shunt" (in English). Am J Clin Oncol. 2002 (25:): 104-5. 
  • Thambidorai DR.; Azmi A, Rahman AJ. et al (2001). "Spermatic cord metastasis from a medulloblastoma" (in English). Pediatr Surg Int. 2001 (17:): 654-6. 
  • Fiorillo A.; Maggi G, Martone A, Migliorati R, et al (2001). "Shunt-related abdominal metastases in an infant with medulloblastoma: long-term remission by systemic chemotherapy and surgery" (in English). J Neurooncol. 2001 (52:): 273-6. 
  • Kornoes DN.; Meyers SP, Rubin A, et al (1999). "A 4-year-old girl with a ventriculperitoneal shunt metastasis of a central nervous system atypical teratoid/rhabdoid tumor" (in English). Med Tediat Oncol 1999 (32:): 389-91. 
  • Guler, E.; Varan A, Soylemezoglu F. etal (2001). "Extraneural metastasis in a child with atypical teratoid rhabdoid tumors of the central nervous system" (in English). J Neurooncology 2001 (54:): 53-56. 

Metastasis (Greek: change of the state) is the spread of cancer from its primary site to other places in the body. ...

Prognosis

As of 2006 the prognosis for AT/RT remains very poor. Although there are some indications that an IRSIII-based therapy can produce long-term survival (60 to 72 months): Prognosis (older Greek πρόγνωσις, modern Greek πρόγνωση - literally fore-knowing, foreseeing) is a medical term denoting the doctors prediction of how a patients disease will progress, and whether there is chance of recovery. ...

  • Two year survival- less than 20%
  • Average survival postoperatively- 11 months
  • Many doctors recommend pallative care, especially with younger children because of the poor outcomes
  • The longest term survivals reported in the literature are:
    • (a) Hilden and associates reported a child who was still free from disease at 46 months from diagnosis.
    • (b) Olson and associates reported a child who was disease free at 5 years from diagnosis based on the IRS III protocol.
    • (c) In 2003 Hirth reported a case who had been disease free for over six years.
    • (d) More recently (2005) Zimmerman at DFCI (Dana Farber Cancer Institute) reports 50-to-72 month survial rates on four patients using an IRS III based protocol. Interestingly two of these LT survivors had been treated after an AT/RT reoccurance.
    • (f) Based on this IRS III (Rhabdomyosarcoma Study Group (IRS III) parameningeal) protocol (Janas, Rorke et al. 2004) Philadelphia Children's Hospital updated this treatment (DFCI 02-294 protocol - see Kieran presentation) and is executing a NCI funded clinical trial. Zimmerman is expected to update this study soon.
    • (g) A NYU study (Gardner 2004) has 4 of 12 longer term AT/RT survivors. The oldest was alive at 46 months after diagnosis.
    • (h) A small German study had a 94% survival rate at two years (Peters 2006).
    • (i) The Rhabdoid Kids web site has a 84+ month survivor - he is called Connor Titmarsh.
    • (j) Finally, (Aurélie Fabre 2004) reported a 16 year survivor of a soft-tissue rhabdoid tumor.
  • Patients with Metastasis (Disseminated tumor), larger tumours, tumours that could not be fully removed, tumor reoccurance, and were younger than 36 months had the worse outcomes (i.e., shorter survival times).
  • Based on a retrospective survey from 36 AT/RT St. Jude Children's Hospital patients from 1984 to 2004 a <10% survival rate in children under 3 was found, but a 70% survival rate in older children. The survival rates by age are shown in Figure 1. in this reference. The full Saint Jude article citation (Atypical Teratoid/Rhabdoid Tumors (ATRT)) is shown below:
  • Based on a retrospective Register at the Cleveland Children's hospital on 42 AT/RT patients. Median survival time is 16.25 months. The survival rate is currently around 33%. 25% of these cases did not show the mutation in the INI1/hSNF5 gene. The full article citation (CNS AT/RT Tumor: Results of Therapy in Children Enrolled in a Registry) is shown below.
  • COG CNS Committee Studies 2003-2007 by Ian Pollack See: Slide No. 30-32 on protocol ACNS033 in Study Management of MO Infant Medulloblastomas (P9934). This treatment is based on surgical resection; chemotherapy, stem cell replacement with intense chemotherapy, and radiation for older patients. This P9934 study is another AT/RT prospective study; it is a Phase III AT/RT study. The DFCI 02-294 protocol and the ACNS033 should be non-randomly compared as to their respective outcomes.
  • Increasingly it is recommended that a genetic analysis be performed on the brain tumor, especially to find if a deletion in the INI1/hSNF5 gene is involved (appears to account for over 80% of the cases). The correct diagnosis of the tumour is critical to any protocol. Studies have shown that 8% to over 50% of AT/RT tumors are diagnosed incorrectly.

CITATIONS The term disease refers to an abnormal condition of an organism that impairs function. ... Metastasis (Greek: change of the state) is the spread of cancer from its primary site to other places in the body. ... St. ... Diagram indicating location of the SNF2 Subfamily of proteins and their relative similarity with other proteins organized by their conservation of NTP-binding motifs. ... For a non-technical introduction to the topic, see Introduction to Genetics. ... In medicine, a clinical trial (synonyms: clinical studies, research protocols, medical research) is the application of the scientific method to human health. ...

  • Meyers, SP; Khademian ZP, Biegel JA, Chuang SH, Korones DN, Zimmerman RA. (May, 2006). "Primary intracranial atypical teratoid/rhabdoid tumors of infancy and childhood: MRI features and patient outcomes". AJNR Am J Neuroradiol. 2006 27 ((5)): 962-71. Abstract Only: Patients ranged in age from 4 months to 15 years (median age, 2.9 years). Primary AT/RTs were intra-axial in 94% of patients. The single primary extra-axial lesion was located in the cerebellopontine angle cistern. AT/RTs were infratentorial in 47%, supratentorial in 41%, and both infra- and supratentorial in 12%. A germ-line mutation of the hSNF5/INI1 tumor-suppressor gene was responsible for the simultaneous occurrence of an intracranial AT/RT and a malignant renal rhabdoid tumor in a 4-month-old patient. Mean tumor sizes were 3.6 x 3.8 x 3.9 cm. On short TR images, AT/RTs typically had heterogeneous intermediate signal intensity, as well as zones of low (54%), high (8%), or both low and high (31%) signal intensity from cystic and/or necrotic regions, hemorrhage, or both, respectively. On long TR/long TE images, solid portions of AT/RTs typically had heterogeneous intermediate-to-slightly-high signal intensity with additional zones of high (54%) or both high and low signal intensity (38%), secondary to cystic and/or necrotic regions, edema, prior hemorrhage, and/or calcifications. AT/RT had isointense and/or slightly hyperintense signal intensity relative to gray matter on fluid-attenuated inversion-recovery (FLAIR) and long TR/long TE images, and showed restricted diffusion. All except 1 AT/RT showed contrast enhancement. The fraction of tumor volume showing enhancement was greater than two thirds in 58%, between one third and two thirds in 33%, and less than one third in 9%. Disseminated tumor in the leptomeninges was seen with MR imaging in 24% of patients at diagnosis/initial staging and occurred in another 35% from 4 months to 2.8 years (mean, 1.1 years) after surgery and earlier imaging examinations with negative findings. The overall 1-year and 5-year survival probabilities were 71% and 28%, respectively. Patients with MR imaging evidence of disseminated leptomeningeal tumor had a median survival rate of 16 months compared with 149 months for those without disseminated tumor (P < .004, logrank test). CONCLUSION: AT/RTs are typically intra-axial lesions, which can be infra- and/or supratentorial. The unenhanced and enhanced MR imaging features of AT/RT are often variable secondary to cystic/necrotic changes, hemorrhage, and/or calcifications. Poor prognosis is associated with MR imaging evidence of disseminated leptomeningeal tumor.
  • Biegel JA (Jan, 2006). "Molecular genetics of atypical teratoid/rhabdoid tumor". Neurosurg Focus 15 (20(1)). Retrieved on May 27, 2007. The most common AT/RTlocations are the kidney and central nervous system. Although RTs can also arise in most soft-tissue sites. Rhabdoid tumors in all anatomical locations have a similar molecular origin. Mutation or deletion of both copies of the hSNF5/INI1 gene that maps to chromosome band 22q11.2 is observed in approximately 70% of primary tumors. An additional 20 to 25% of tumors have reduced expression at the RNA or protein level, indicative of a loss-of-function event. The INI1 protein is a component of the SWI/SNF chromatin remodeling complex. The complex is recruited to promoters of a large variety of genes involved in cell signaling, growth, and differentiation. This review summarizes what is currently known regarding the molecular genetics of RTs.
  • Kieran MD, Ph.d, Mark W. (2006). "An Update on Germ Cell Tumors, Atypical Teratoid/Rhaboid Tumors, and Choroid Plexus Tumors Rare Tumors 3: Brain Tumors---Germ Cell Tumors, Atypical Teratoid/Rhabdoid Tumors, and Choroid Plexus Tumors". American Society of Clinical Oncology Education Book. Retrieved on May 20, 2007. This is an online presentation summarizing AT/RT Research as of 2006 and announcing the first prospective AT/RT Treatment study. The author notes that 188 AT/RT cases have been reported in the literature from 1985 to 2004. The current four long-term survivors (4-to-6 years) had very aggressive chemotherapy and radiation. Dr. Keiran notes that the AT/RT chemical agents are very toxic and can cause death by themselves.
  • Chen, YW; Wong TT, Ho DMT, Huang PI, Chang KP, Shiau CY, Yen SH (January 5, 2006). "Impact of radiotherapy for pediatric CNS atypical teratoid/rhabdoid tumor (single institute experience)". Int J Radiat Oncol Biol Phys 64: 1038-1043. Title, No Abstract or need membership, must purchase article; Three patients, with Longer Term Survival using XRT (CSI). See follow-up note in journal on The importance of radiotherapy in AT/RT patients less than 3 years of age
  • CHEN BA, MICHAEL L.; J. GORDON MCCOMB, M.D., AND MARK D. KRIEGER, M.D. (June, 2005). "Atypical teratoid/rhabdoid tumors of the central nervous system: management and outcomes". Neurosurg Focus 18 ((6a):E8): 1 - 5. Full Text: Over a 7-year period (1996-2003), ATRT was diagnosed in 11 patients (six boys and five girls in LA). The median age of the patients was 61 months, and their ages ranged from 3 months to 17 years. Tumor location was cortical in four patients, in the pineal region in four, in the posterior fossa in two, and spinal in one. In one patient disseminated disease was revealed on the initial imaging study; seven patients had disseminated tumor subsequently. Treatment consisted of chemotherapy (COG 99701, 99702, and 99703 regimens), in 11 patients, chemotherapy and local radiation in five, and chemotherapy and craniospinal radiation in three. Six patients are alive, three have died, and two were lost to follow-up review. The mean time to death was 24 months, and ranged from 2 to 67 months. Among the surviving patients the mean duration of follow up is 18.5 months and ranges from 2 to 37 months. The median time to progression was 3.5 months. Conclusions. Atypical teratoid/rhabdoid tumors are malignant lesions with rapid progression. Further study is necessary to determine the efficacy of therapy.
  • Zimmerman Ann, Mary; Goumnerova, Liliana; Proctor, Mark; Michael Scott; Marcus, Karen; Pomeroy, Scott; Turner, Christopher; Chi, Susan; Chordas, Christine; Kieran, Mark (March, 2005). "Continuous remission of newly diagnosed and relapsed central nervous system atypical teratoid/rhabdoid tumor". Journal of Neuro-Oncology 72: 77-84. Retrieved on May 20, 2007.  Abstract, must purchase article; Four Long-Term patients alive at 6.5, 6.0, 5+, 5 years in March, 2005. All still alive as of March, 2007. Used intensive chemotheraphy basd on the IRSIII protocol.
  • Tekkök, Ismail; Sav, Aydin (July, 2005). "Primary malignant rhabdoid tumor of the central nervous system – a comprehensive review". Journal of Neuro-Oncology 73: 241-252. DOI:10.1007/s11060-004-5671-6. Retrieved on June 5, 2007. An eight-year-old girl presented with headache and vomiting and was found to harbor a right fronto-temporo-parietal solid tumor that gross totally removed. The initial histopathologic diagnosis was hemangiopericytoma and the patient received a total dose of 5330 cGy of external cranial radiation. Twelve months later, the patient presented with left lower quadrant pain and limping and the spinal MR scans showed metastases at T4-5, T7, T12-L1 and L3 levels. The voluminous lesion at T12-L1 was surgically removed. Histopathological examination of both specimens revealed that both tumors in fact were malignant rhabdoid tumor (MRT). The patient died 4 months later. A literature review showed that since Briner et al’. first report in 1985 [Pediatr Pathol 3: 117–118, 1985], 100 MRT cases have been published. More than two-thirds of reviewed cases presented with local recurrence or subarachnoid spread after a mean period of 6.9 months after diagnosis and died two months later. Infratentorial and pineal location and surgery limited to biopsy were poor prognostic indicators. Twenty-two cases remained alive at a mean period of 24.5 months. The longest survival with an intracranial MRT was 65 months. Of those remaining alive, 15 had no evidence of disease (NED). Our case is the first MRT case immunopositive for HMB-45 and has also shown that the MRT cells grow aggressive over time as demonstrated by a fourfold increase in MIB-1 labeling index.
  • Fabre, Aurélie; Brian Eyden; Hiam H. Ali (January, 2004). "Soft-Tissue Extrarenal Rhabdoid Tumor with a Unique Long-Term Survival". Ultrastructural Pathology 28 (1): 49 - 52. Retrieved on May 28, 2007.  Abstract, must purchase article; The authors record the case a soft-tissue rhabdoid tumor in a 12-year-old boy with a unique long-term survival in excess of 16 years. The features of this case are documented, with a brief summary of histological, immunohistochemical, ultrastructural, and genetic characteristics of this entity.
  • Hilden, Joanne M.; Sharon Meerbaum, Peter Burger, Jonathan Finlay, Anna Janss, Bernd W. Scheithauer, Andrew W. Walter, Lucy B. Rorke, Jaclyn A. Biegel ((July 15) 2004). "Central Nervous System Atypical Teratoid/Rhabdoid Tumor: Results of Therapy in Children Enrolled in a Registry". Journal of Clinical Oncology 22 (14): 2877-2884. DOI:10.1200/JCO.2004.07.073. Retrieved on May 23, 2007. 
  • Asle Hirth; Paal-Henning Pedersen; Knut Wester; Sverre Mörk; Jon Helgestad (2003). "Cerebral Atypical Teratoid/Rhabdoid Tumor of Infancy: Long-Term Survival after Multimodal Treatment, also Including Triple Intrathecal Chemotherapy and Gamma Knife Radiosurgery--Case Report (Abstract)" (in English). Pediatric Hematology and Oncology 2003 20 (4:): 327-332. Abstract, have to purchase article. The boy presented at age one and is doing well after 6 years follow-up. AT/RT should be treated in a multimodal way. Intrathecal chemotherapy and Gamma knife radiosurgery of single recurrent or residual tumors might increase survival.
  • Beigel J; Kalpana G, Knudsen E, et al. (2002). "The role of INI and the SWI/SNF complex in the development of rhabdoid tumors: Meeting Summary from the workshop on childhood atypical teratoid rhabdoid tumors" (in English). Cancer Research 2002 (63:): 323-328. 
  • Burger, PC; Yu I, Tihan T, et al (1998). "Atypical teratoid rhaboid tumors of the central nervous system: a highly malignant tumor of infancy and childhood frequently mistaken for medulloblatoma: a Pediatric Oncology Group Study". Am J Surg Pathol 1998 22:: 1083-92. This is a review of 55 patients diagnosed with AT/RTs to define this disease both clinically and pathologically.
  • Hilden, JM; Watterson J, Longee DC (1998). "Central nervous system atypical teratoid tumor/rhaboid tumor: response to intensive therapy and a review of the literature - Abract". J Neurooncol 1998 40:: 365-75. Abstract only, must purchase paper. This paper mainly reports the results of intensified therapy, which appears to slightly extend patient survival times.
  • Geyer (2006). "Unpublished Study: CCG9921 Infant Brain Tumor Study" (in English). Mentioned in above ASOC Kieran presentation. Link is to 284 Infants, 28 with AT/RT - Median survival time: 10 months
  • Sugita, Y; Takahashi Y, Hayashi I. (1999). "Pineal malignant rhabdoid tumor with chondroid formation in an adult". Path Int 49:: 1114-8. A pineal tumour in a 27-year-old male is presented with the characteristic histological features of a pineal malignant rhabdoid tumor (MRT) with chondroid formation. Immunohistochemical staining was positive for vimentin, epithelial membrane antigen, chromogranin A, synaptophysin, neuron-specific enolase, S-100 protein, and muscle actin. Despite surgery and radiochemotherapy, the tumor recurred in the pineal region and metastasized to the lower lobe of right lung. The patient died 2 years after the initial diagnosis. This is the second published case of central nervous system-MRT appearing in an adult.
  • Olson, TA; Bayar E, Kosnic E. (1995). "Successful treatment of disseminated central nervous system malignant rhabdoid tumors". J Pediatr Hematol Oncol 17: 71-75. Malignant rhabdoid tumor (MRT) of the central nervous system (CNS) is pathologically identical to MRT of the kidney. CNS MRTs have the clinicopathological behavior of a high-grade intracranial sarcoma, and the children have a very poor prognosis. We report on three cases of primary CNS MRT with a review and summary of the pediatric literature with respect to demographic features and multidisciplinary management. The 18 cases reviewed had a male to female ratio of 1.0 and an extremely young median age of 32 months. Our three cases of CNS MRT were treated with surgery, chemotherapy, radiotherapy, and triple intrathecal (TIT) chemotherapy similar to the Intergroup Rhabdomyosarcoma Study III guidelines for parameningeal primary tumors with intracranial extension. The three patients described in this report are surviving with no evidence of disease at 5 years, 2 years, and 9 months from diagnosis. Before these three cases, only four of 16 reported patients were known to have survived. One unique case in our report involved disease in the cerebral cortex, sinuses, and orbit with metastases to the subarachnoid space. This metastatic MRT responded to treatment with TIT, multiagent chemotherapy and cranial-spinal radiation after partial resection of only the cortical portion of the MRT. CONCLUSIONS: Disseminated CNS MRTs can be treated using multidisciplinary management with an approach similar to that used to treat rhabdomyosarcoma

A digital object identifier (or DOI) is a standard for persistently identifying a piece of intellectual property on a digital network and associating it with related data, the metadata, in a structured extensible way. ... A digital object identifier (or DOI) is a standard for persistently identifying a piece of intellectual property on a digital network and associating it with related data, the metadata, in a structured extensible way. ... June 3 is the 154th day of the year (155th in leap years) in the Gregorian calendar. ... June 3 is the 154th day of the year (155th in leap years) in the Gregorian calendar. ... A digital object identifier (or DOI) is a standard for persistently identifying a piece of intellectual property on a digital network and associating it with related data, the metadata, in a structured extensible way. ...

Cancer Treatment Effects on Long-Term Survivors

  • Cancer treatments in long-term survivors who are children usually cause a series of negative effects on physical well being, fertility, cognition, and learning.
  • Foreman, Nicholas K.; Paul M. Faestel, Joanne Pearson, Jennifer Disabato, Marty Poole, Greta Wilkening, Edward B. Arenson, Brian Greffe1, and Robert Thorne (January, 1999). "Health Status in 52 Long-term Survivors of Pediatric Brain Tumors". Journal of Neuro-Oncology 41: 47-52. The percentage of children who survive childhood brain tumors is increasing. The mothers of 52 survivors of brain tumors were surveyed. Eight different aspects (attributes) of health status were scored. Limitation in the quality of life was found in one of the 8 attributes in all but 2 of the subjects. The health status index (HSI) score using the first 6 attributes of this survey had a median of 0.73 (range 0.16–1.00. This survey shows that the survivors of brain tumors have an appreciable burden of morbidity. Most have deficits in health status that affect many areas of their lives. Apart from site of the primary tumor, there was little correlation between subgroups studied and health status. The health status of children who survive brain tumors is lower than that of survivors of other childhood malignancies.

According to the National Cancer Institute, the incidence of childhood cancers has increased over the past 20 years. ...

What are the treatment options for AT/RT?

Surgical option

Surgery plays a critical role in obtaining tissue to make an accurate diagnosis. Surgery alone is not curative. In addition, 30% of the AT/RT tumors are located supratentorially and there is a predilection for the cerebello-pontine angle which makes surgical resection difficult. Unfortunately 1/3 or more children will have disseminated disease at the time of diagnosis. Total or near-total resections are often not possible. A range new treatments are emerging for Brain Tumors. A cardiothoracic surgeon performs a mitral valve replacement at the Fitzsimons Army Medical Center. ... Biological tissue is a group of cells that perform a similar function. ... In general, a diagnosis (plural diagnoses) has two distinct dictionary definitions. ... Tumor (American English) or tumour (British English) originally means swelling, and is sometimes still used with that meaning. ... In anatomy the supratentorial is located above the tentorium cerebri. ... Disseminated disease refers to a diffuse disease process, generally either infectious or neoplastic, but sometimes also referring to connective tissue disease. ...


Chemotherapy options

Approximately 50% of the AT/RT tumors will transiently respond. Chemotherapy by itself is rarely curative. Tumor (American English) or tumour (British English) originally means swelling, and is sometimes still used with that meaning. ... Chemotherapy is the use of chemical substances to treat disease. ...

There is no standard treatment for AT/RT. Various chemotherapeutic agents have been used against AT/RTs which are also used against other CNS tumors including cisplatinum, carboplatinum, cyclophosphamide, vincristine and eptoposide. CCG clinical trial CCG-9921 was activated in 1993 and published its results in 2005. The proposed treatments did not have different outcomes and were not an improvement on prior treatments (Geyer 2005). More recently (2005) Zimmerman at DFCI (Dana Farber Cancer Institute) reports 50-to-72 month survial rates on four patients using an IRSIII based protocol. Zimmerman is expected to update this study soon. The Philadelphia Children's Hospital is using this new DFCI 02-294 protocol (see Dr. Kieran ASCO presentation). In addition, the COG CNS Committee Studies 2003-2007 by Ian Pollack See: Slide No. 30-32 on protocol ACNS033 in Study Management of MO Infant Medulloblastomas (P9934). This P9934 study is the first prospective study; it is also a Phase III AT/RT study. It is expected to make a preliminary report in 2007. The DFCI 02-294 and the ACNS033 chemotherapy protocols should be compared as to their respective outcomes. Chemotherapy regimens are often identified with acronyms, identifying the agents used in combination. ... Cisplatin, cisplatinum or cis-diamminedichloroplatinum(II) (CDDP) is a platinum-based chemotherapy drug used to treat various types of cancers, including sarcomas, some carcinomas (e. ... Cyclophosphamide (the generic name for Cytoxan, Neosar) is a nitrogen mustard alkylating agent, used to treat various types of cancer and some autoimmune disorders. ... Vincristine (Oncovin®) is a vinca alkaloid from the Madagascar periwinkle (Catharanthus roseus, formerly Vinca rosea and hence its name). ... In medicine, a clinical trial (synonyms: clinical studies, research protocols, medical research) is the application of the scientific method to human health. ...

  • J. Russell Geyer; Richard Sposto, Mark Jennings, James M. Boyett, Richard A. Axtell, David Breiger, Emmett Broxson, Bernadine Donahue, Jonathan L. Finlay, Joel W. Goldwein, Linda A. Heier, Dennis Johnson, Claire Mazewski, Douglas C. Miller, Roger Packer, Diane Puccetti, Jerilynn Radcliffe, May Lin Tao, Tania Shiminski-Maher (October 20, 2005). "Multiagent Chemotherapy and Deferred Radiotherapy in Infants With Malignant Brain Tumors: A Report From the Children’s Cancer Group" (in English). Journal of Clinical Oncology 23: 7621-7631. This is a review of chemotherapy on 299 infants (< 3 years old) with CNS Tumors. It evaluates response rate, event-free survival (EFS), and toxicity of two chemotherapeutic regimens for treatment of children younger than 36 months with malignant brain tumors. Patients were randomly assigned to one of two regimens of induction chemotherapy (vincristine, cisplatin, cyclophosphamide, and etoposide v vincristine, carboplatin, ifosfamide, and etoposide Intensified induction chemotherapy resulted in a high response rate of malignant brain tumors in infants. Survival was comparable to that of previous studies, and most patients who survived did not receive radiation therapy.

There has been at least one report in the literature of malignant rhabdoid tumors of the CNS being treated in as a high-grade intracranial sarcoma. These three cases were treated with surgery, chemotherapy, radiotherapy and triple intrathecal chemotherapy similar to the Intergroup Rhadbdomyoscarcoma Study III guidelines. A sarcoma is a cancer of the connective or supportive tissue (bone, cartilage, fat, muscle, blood vessels) and soft tissue. ... A medical guideline (also called a clinical guideline and clinical protocol) is a document with the aim of guiding decisions and criteria in specific areas of healthcare, as defined by an authoritative examination of current evidence (evidence-based medicine). ... In medicine, malignant is a clinical term that means to be severe and become progressively worse, as in malignant hypertension. ... A diagram showing the CNS: 1. ... A sarcoma is a cancer of the connective or supportive tissue (bone, cartilage, fat, muscle, blood vessels) and soft tissue. ... A cardiothoracic surgeon performs a mitral valve replacement at the Fitzsimons Army Medical Center. ... Chemotherapy is the use of chemical substances to treat disease. ... Radiation therapy (or radiotherapy) is the medical use of ionizing radiation as part of cancer treatment to control malignant cells (not to be confused with radiology, the use of radiation in medical imaging and diagnosis). ... Intrathecal: Delivered into the spinal canal (intrathecal space surrounding the spinal cord), as in a spinal anaesthesia. ...

One of the difficulties with brain and spinal tumors is that there is a blood brain barrier that needs to be crossed so that the drug can get to the tumor. One mechanism to deliver the drug is through a device called an Ommaya reservoir. This is a device which shares some similarities to a shunt in which a tube a surgically placed in the fluid surrounding the brain and a bulb shaped reservoir attached to the tubing is placed under the skin of the scalp. When the child is to receive intrathecal chemotherapy, the drug is administered into this bulb reservoir. At other times intrathecal chemotherapeutic agents are delivered through a lumbar puncture (spinal tap). Intrathecal: Delivered into the spinal canal (intrathecal space surrounding the spinal cord), as in a spinal anaesthesia. ... A medical guideline (also called a clinical guideline and clinical protocol) is a document with the aim of guiding decisions and criteria in specific areas of healthcare, as defined by an authoritative examination of current evidence (evidence-based medicine). ... Italic text // ahh addiing sum spiice iin hurr`` For other uses, see Brain (disambiguation). ... The blood-brain barrier is a physical barrier between the blood vessels in the central nervous system, and the central nervous system itself. ... Tumor or tumour literally means swelling, and is sometimes still used with that meaning. ... Intrathecal: Delivered into the spinal canal (intrathecal space surrounding the spinal cord), as in a spinal anaesthesia. ... Chemotherapy is the use of chemical substances to treat disease. ... A patient undergoes a lumbar puncture at the hands of a neurologist. ...


A current Pediatric Brain Tumor Consortium Protocol uses intrathecal mafosfamide, a pre-activated cyclophosphamidederivative, in addition to other modalities to try to effect this tumor. Chemotherapy regimens are often identified with acronyms, identifying the agents used in combination. ... Cyclophosphamide (the generic name for Cytoxan, Neosar) is a nitrogen mustard alkylating agent, used to treat various types of cancer and some autoimmune disorders. ... Tumor or tumour literally means swelling, and is sometimes still used with that meaning. ...

  • High dose chemotherapy with stem cell rescue

This therapy uses chemotherapy at doses high enough to completely suppress the bone marrow. Prior to instituting this therapy, the child has a central line placed and stem cells are gathered. After therapy these cells are given back to the child to regrow the bone marrow. Stem cell rescue or Tautologous bone marrow transplantation, was initially thought to be of benefit to a wide group of patients, but has declined over the history of chemotherapy protocols. A general description of stem cell rescue is available. In addition, there are some reports that it is effective with select cancers and this includes AT/RT (see Wiki article references). Chemotherapy is the use of chemical substances to treat disease. ... Grays Anatomy illustration of cells in bone marrow. ... In medicine, a central venous catheter (CVC or central (venous) line) is a catheter placed into a large vein in the chest or groin. ... Mouse embryonic stem cells with fluorescent marker. ... Hematopoietic stem cell transplantation (HSCT), of cells either derived from the bone marrow or peripheral blood, colloquially known as bone marrow transplantation is a medical procedure in the field of hematology and oncology that involves transplantation of hematopoietic stem cells (HSC). ... In biology, autologous refers to cells, tissues or even proteins that are reimplanted in the same individual as they come from. ... Bone marrow transplantation is a medical procedure that involves stem cell transplantation. ... The era of chemotherapy began in the 1940s with the first uses of nitrogen mustards and folic acid antagonist drugs. ...


Radiation options

The traditional dogma for childhood brain tumors has been to use chemotherapy in order to defer radiation until a child is older than 3 years. This strategy is based upon observations that children under 3 have significant long term complications as a result of brain irradiation. However, the long term outcomes of AT/RT are so poor that current protocols are calling for upfront radiation therapy, often in spite of young age. See PMID 16855864 for review on radiation therapy for AT/RT. Clinac 2100 C100 accelerator Radiation therapy (or radiotherapy) is the medical use of ionizing radiation as part of cancer treatment to control malignant cells (not to be confused with radiology, the use of radiation in medical imaging and diagnosis). ...


The dose and volume of radiation had not been standardized, however, radiation does appear to improve survival. The use of radiation has been limited in children younger than three because of the risk of severe neurocognitive deficits. There are protocols using conformal, local radiation in the young child to try to cure this tumor (see clinical trial information).

Conformal radiation uses several fields that beam intersects at the tumor location. In this way, the normal brain tissue receives less radiation and hopefully is at less impact on cognitive function. External beam radiotherapy otherwise known as teletherapy, is the most frequently used form of radiotherapy. ...

In 2002 this type of therapy was only offered in Massachusetts General Hospital in Boston and Loma Linda, California. The Northeast Proton Therapy Center claims that proton beam therapy offers “some theoretical advantages over other types of sterotactic radiosurgery because it uses the quantum wave properties of protons to reduce the doses to the surrounding tissue beyond the target to a theoretical minimum of zero. It is also advantageous in the treatment of unusually shaped brain tumors.” An overview articlenotes that it provides better effective treatment with fewer side effects in pediatric cases. Since 2003 three or four more proton therapy centers have opened in the United States. Proton therapy is a kind of external beam radiotherapy where protons are directed to a tumor site. ...

    • Massachusetts General Hospital- Northeast Proton Therapy Center
      • Principles of Proton Beam Therapy
      • Proton Beam RadioTheraphy at Mass. General
      • Proton Beam Therapy Article
      • Proton Beam Therapy - BJC Abstract
    • Loma Linda Medical Center Proton Treatment Center - Overview
      • Loma Linda overview of Childhood Brain Tumors

Chromatin re-modeling agents

This protocol is still in pre-clinical evaluation. Information on HDAC inhibitors, a new class of anticancer agents targeted directly at chromatin remodeling, was presented on the Workshop on Atypical Teratoid Rhabdoid Tumors of the CNS. These agents have been used in acute promyelocytic leukemia and have been found to affect the HDAC-mediated transcriptional repression. The participants in the workshop concluded that there was too little understanding of the INI1 deficiency to predict whether HDAC inhibitors will be effective against AT/RTs. Although, there are some laboratory results that indicate it is effective against certain AT/RT cell lines. Histone deacetylases (HDAC) are a class of enzymes that remove acetyl groups from an ε-N-acetyl lysine amino acid on a histone. ... A diagram showing the CNS: 1. ... Histone deacetylases (HDAC) are a class of enzymes that remove acetyl groups from an ε-N-acetyl lysine amino acid on a histone. ...


Proteomics Lab to Study Pediatric Brain Tumours

There is no treatment protocol yet, but in June, 2006 Children's National Medical Center opened the first proteomics Lab. This Center treats around 10% of CNS pediatric cancers in the United States. Proteomics, an innovative method that allows research scientists to study thousands of complex proteins at once, will be used to analyze brain tumors using samples of spinal fluid. Until recently, scientists were only able to study a few proteins at a time, leaving behind the information contained in the thousands of other proteins that make up the complete picture. This article or section is in need of attention from an expert on the subject. ...


By sampling the spinal fluid, one can see a snapshot of the tumor at a given time, which may help doctors create a “protein fingerprint” of the tumor to help track the tumor’s status. Brain tumors are biologically interrelated with the surrounding tissue environment and the patient’s spinal fluid circulates through this environment. Thus, CSF be used to identify a tumor’s characteristics and whether it is changing at different time points. This could eventually side-step the invasiveness of brain surgery and assess a tumor’s behavior in real-time, particular its response to drugs. The technology could be used to match drugs to target the tumor’s specific “protein fingerprint” and to see whether the drugs are working the way they are intended.


How does one find clinical trials?

Atypical teratoid rhabdoid tumors are rare and there is no therapy that has been proven to deliver long term survival, nor is there a set of standard protocols. Thus, most children with AT/RTs are enrolled in clinical trials to try to find an effective cure. A clinical trial is not a treatment standard. Currently, there is no one place to find all the clinical trials which may be open to a child. Although, Clinical Trials.gov is a good start and attempts to track most US trials. As noted in the Prognosis section there are two prospective clinical trials (DFC 02-294 & COG ACNS0333) that appear to have more long-term survivors. As noted in FDA Forces Fatal Chemo on Kids there is some controversy with clinical trials because they are expensive and limited, yet the FDA can legally block access to unapproved trials and even force children to take an official treatment that parents do not want.


General Clinical Trial Information

  • Clinical Trials: Advanced Search is arguably, the best place to find information on pediatric cancer trials. Hit the links for Find a Treatment or enter a key word such as infant. At this time there are a few possible clinical trials listed for the newly diagnosed patient. There are other progressive pediatric brain tumor protocols that are not listed on this site.
  • National Library of Medicine listing of Medical Trials This database produced by NIH Registry now lists 4,000 primarily NIH-supported clinical studies on many conditions, and more will be added. All trials on PDQ are listed in this database. It provides summaries about clinical trials for a wide range of conditions—most of the trials listed are sponsored by NIH
  • National Cancer Institute Clinical Trials If you have trouble obtaining information online you can call an NCI information specialist through a LiveHelp online text chat or by calling 1-800-4-CANCER. This is the National Cancer Institute's Physicians Query database, it has over 5,000 active cancer clinical trials. It provides summaries about clinical trials conducted by NCI-sponsored researchers, the pharmaceutical industry, and some international groups. This data is also from National Library of Medicine (NLM. It ists current information about clinical research studies. This is a major site, that many website on Pediatric Cancer link to. The Physicians Data Query (PDQ) database at NCI maintains a Clinical Trials Registry, which is used by the [ClinicalTrials.gov] website. This database is the world's most comprehensive cancer clinical trials registry. The registry contains more than 5,000 abstracts of clinical trial protocols that are open/active and approved for patient accrual (accepting patients). It includes trials for cancer treatment, genetics, diagnosis, supportive care, screening, and prevention. In addition, the registry contains more than 16,000 abstracts of clinical trial protocols that have been completed or are closed to patient accrual.
    • PDQ includes most clinical trials sponsored by NCI. It also contains many clinical trials sponsored by pharmaceutical companies, medical centers, and other groups from around the world. It includes all cancer clinical trials that are registered under requirements specified by Section 113 of the Food and Drug Administration Modernization Act of 1997 (phase II and higher drug treatment trials) and requirements of the International Committee of Medical Journal Editors (phase II and higher trials that have a comparison or control group). The registration of clinical trials in PDQ is strongly encouraged, but it is strictly voluntary. PDQ and NIH's ClinicalTrials.gov database regularly exchange clinical trial information. Cancer trials registered in PDQ will automatically be registered in ClinicalTrials.gov and vice versa.
    • Protocol abstracts in PDQ are written in two formats, the health professional abstract (uses technical terminology) and the patient abstract (uses non-technical language). However, some trials (obtained from ClinicalTrials.gov) contain the same text in both the patient and health professional abstracts.
  • National Intstitute of Health - Search Clinical Research Studies
  • Pediatric Brain Tumor Clinical Trials
  • National Institute of Child Health and Human Development - Clinical Trials. This data is in the Clinical Trials.gov site.
  • Office of Rare Diseases - Clinical Trials This data is in the Clinical Trials.gov/PDQ database.
  • FDA Site on Clinical Trials - points to the PDQ Clinical Trials database
  • The American Cancer Society (ACS) has a free service to Find a Cancer Clinical Trial. This American Cancer Society Clinical Trials Matching Service is a free, confidential program that helps patients, families and health care workers find clinical trials most appropriate to a patient's medical and personal situation. You can also call the ACS directly at 1-800-303-5691.
  • Coalition of Cancer Cooperative Groups Maintains a web site that helps a patient find a relevant clinical trial (Trial Check). They are a network of cancer clinical trials specialists interested in expanding access to clinical trials. Members include cancer centers, academic medical centers, community hospitals, physician practices, and patient advocate groups.
  • Cancerbackup Search Engine allows one to search for cancer research trials available to UK and European patients. The databases involved include the NCRN (National Cancer Research Network), Cancer Research UK and the EORTC (European Organisation for Research and Treatment of Cancer). Trials run by the pharmaceutical industry are also included. USA clinical trials are shown on the NCI website.
  • Medline Plus - Clinical Trials US National Library of Medicine maintains the Medline Plus site. It has a lot of background articles, but points to the PDQ/Clinical Trials. Gov database.
  • INTERNATIONAL CLINICAL TRIALS REGISTRY PLATFORM SEARCH PORTAL
  • National Human Genome Research Unit Clinical Trials
  • Gene Therapy Clinical Trials Worldwide
  • Cancer Help UK - Find a Clinical Trials
  • CenterWatchprovides clinical research information for patients, firms, and research institutions around the world. It was founded in 1994 to provide information services to the clinical trials industry. They provide a list of IRB approved clinical trials being conducted internationally. They also list promising therapies newly approved by the FDA (Food and Drug Administration). One can search for trials by medical specialty.
  • National Center for Complementary and Alternate Medicine Clinical Trials. This site maintains its own lists, but also points to [ClinicalTrials.gov]

Hospital/Academic Centers Clinical Trials

  • Cincinnati Children's Hospital Clinical Trials
  • Saint Jude Clinical Trials PBTC Member
  • Sloan Kettering Cancer Center Clinical Trials
  • University of VA Health System - Clinical Trials
  • Yale Cancer Center Clinical Trials
  • University of Texas MD Anderson Cancer Center
  • Children’s Hospital at Montefiore (CHAM) Clinical Trials
  • University of Iowa Clinical Trials
  • University of Minn. Cancer Center - Clinical Trials
  • Oncolink Abrahamson Cancer Center of the University of Penn.
  • Dana Farber Cancer Institute Clinical Trials. They also have a link to the PDQ database and send their trial information there as well. PBTC Member
  • Baylor College of Medicine - Clinical Trials PBTC and COG member
  • Mayo Clinic Trials
  • Univ. of Pittsburg Hospital- Clinical Trials PBTC and COG member
  • University of California San Francisco Comprehensive Cancer Center - Clinical Trials PBTC Member
  • Children's Hospital of Philadelphia - Clinical Trials PBTC and COG member
  • Children's Hospital Seattle Washington - Clinical Trial PBTC and COG member
  • Children's National Medical Center - Clinical Trials PBTC and COG Member
  • Children's Memorial Hospital Chicago PBTC Member
  • Duke Univ. Preston Robert Tish Brain Tumor Center - Clinical Trials PBTC Member
  • Southern Illinois Medical School Simon Cooper Cancer Center - Clinical Trials
  • Radiation Therapy Oncology Group - Clinical Trials

Industry Clinical Trials

  • IFPMA Clinical Trials Portal. The International Federation of Pharmaceutical Manufacturers & Associations (IFPMA)created this portal in 2005. It includes the Clinical Trials site.
  • US pharmaceutical industry association (PhRMA)site on clinical trials]
  • Clinical Trials Search
  • Novartis Clinical Trials
  • Amgen Clinical Trials
  • GlaxoSmithKline Clinical Trial Register
  • Lilly Clinical Trials

Clinical Trial Examples

  • Pilot Study of Systemic and Intrathecal Chemotherapy followed by Conformal Radiation for Infants with Embryonal Intracranial Central Nervous System Tumors, A Pediatric Brain Tumor Consortium Protocol. This study (PBTC-001) is run out of the nine institutions associated with the Pediatric Brain Tumor consortium and uses combined modalities including intrathecal mafosfamide, systemic chemotherapy (vincristine, cyclophosphamide, cisplatinum and oral etoposide) and possibly the use of craniospinal or conformal radiation.
  • Head Start Chemotherapy Protocol. This chemotherapy protocol is for children <10 years old with newly diagnosed high grade primary brain tumors with intent to eliminate irradiation and shorten the treatment time to 6 months. The therapy consists of 3-5 cycles of intensive chemotherapy followed by a single myeloblative chemotherapy with stem cell rescue. Dr. Jonathan Finlay of New York University Medical Center is the contact person although run at a few hospitals in the county (contact information is listed on the site).
  • Phase I Pilot Study of Intensive Chemotherapy with Peripheral Blood Stem Cell Rescue in Infants with Malignant Brain or Spinal Cord Tumors This study uses cisplatinum, cycophosphamide, vincristine and etoposide followed by carboplatinum and thiopeta and then stem cell rescue. There are to be three cycles of carboplatinum and thiopeta with stem cell rescue.
  • Intrathecal and Systemic Chemotherapy Combined With Radiation Therapy in Treating Young Patients With Newly Diagnosed Central Nervous System Atypical Teratoid/Rhabdoid Tumors Children's Hospital of Philadelphia

See clinical trials. In medicine, a clinical trial (synonyms: clinical studies, research protocols, medical research) is the application of the scientific method to human health. ...


Are there options in alternative or complementary medicine?

Especially because the prognosis for this tumor is dismal, many parents may consider alternative medicine. Before committing to an alternative therapy a parent might want to review information on quackwatch site. Other sites to investigate are:

  • Complementary and Alternative Medicine on ACOR’s Ped-Onc
  • National Center for Complementary and Alternative Medicine (NIH site)
  • Complementary/Intergrative Medicine Educational Resource at MD Anderson Site
  • Steve Dunn’s Cancer Guide

What are the risk for siblings and other members of the family?

Atypical teratoid rhabdoid tumors are very rare tumors and absolute risk to siblings is not reported in the literature. However, there have been some reports of AT/RTs presenting in two members of the same family, or one family member with a AT/RT and another with a renal rhabdoid tumor or other CNS tumor. These are thought to arise from Germ-line genetic mutations. Germline is a word used in biology and genetics. ...

  • Kristin, Janson; Lucien A Nedzi, Odile David, Marshall Schorin, John W Walsh, Meena Bhattacharjee, Gabriella Pridjian, Lu Tan, Alexander R Judkins, Jaclyn A Biegel (September, 2006). "Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation". Pediatr Blood Cancer 47 ((3):): 279 - 84. The authors identified a three-generation family in which two half-brothers were diagnosed with central nervous system atypical teratoid/rhabdoid tumors (AT/RT). The two boys, diagnosed at 2 months and 17 months of age, had a germline insertion mutation in exon 4 of the INI1 gene that was inherited from their healthy mother. A maternal uncle died in childhood from a brain tumor and a malignant rhabdoid tumor of the kidney. The identification of two unaffected carriers in a family segregating a germline mutation and rhabdoid tumor supports the hypothesis that there may be variable risks of development of rhabdoid tumor in the context of a germline mutation. There may be a developmental window in which most rhabdoid tumors occur. This family highlights the importance of mutation analysis in all patients with a suspected rhabdoid tumor.
  • Fernandez, C.; Bouvier C, Sevent N. (2002). "Congenital disseminated malignant rhabdoid tumor and cerebellar tumor mimicking medulloblastoma in monozygotic twins: pathologic and molecular diagnosis". Am J Surg Pathol (26:): 266-70. This is the first case report of monozygotic twin both with brain tumors having similar genertic alterations of both tumors. The authors suggest a common genetic pathway.
  • Huret, J.; Sevenet N. (2002). "Rhabdoid predispostion syndrome". Atlas of Genetics and Cytogenetics in Oncology and Haematology. The Atlas of Genetics and Cytogenetics in Oncology and Haematology is a peer reviewed on-line journal and database in free access on internet devoted to genes, cytogenetics, and clinical entities in cancer, and cancer-prone diseases. This particular article was last updated in 2002 and references five (5) papers.
  • Beigel, JA.; Fogelgren B, Wainwright LM, etal (2000). "Germ-line INI1 mutations in a patient with a central nervous system atypical teratoid tumor and renal rhabdoid tumor". Genes Chromosomes Cancer (1:): 31-7. A case report of an infant that developed both AT/RT and renal rhabdoid tumors that were identical in histoligic and immunophenotypic features.
  • Taylor, MD.; Gokgoz N, Andrulis IL. (2000). "Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene". Am J Hum Genet (66:): 1403-1406. This article reviews a family that has had multiple generations of posterior fossa tumors including rhabdoid tumors and choroid plexus carcinoma. There seemed to be a germ-line mutation (SMARCB1) seen in both affected and some unaffected family members.
  • Proust, F.; Laquerriere A, Constantin B. (1999). "Simultaneous presentation of atypical teratoid rhabdoid tumors in siblings". J Neurooncol (43:): 63-70. Two sisters were diagnosed with AT/RTs 15 days apart. This case report stated there were no karyotypic anomalies noted.
  • Sevent, N.; Sheridan E, Amran D, etal. (1999). "Constituitonal mutations of the hSNF/INI1 gene predispose to a variety of cancers". Am J Hum Genet (65:): 1343-1348. Three siblings had a mutation of the SMARCB1 gene and one had a plexus carcinoma and two had a AT/RT. Although the mother had a normal DNA it appears that the mutation was inherited from the mother due to a mutation during oogenesis.

Karyogram of human male using Giemsa staining. ... Oogenesis or rarely oögenesis is the creation of an ovum (egg cell). ...

What resources are there for parents and families dealing with atypical teratoid rhaboid tumors?

Deciphering the different websites and organizations can be an overwhelming task to a new parent, relative or friend to this field. Although not an exhaustive list, some of the better resources regarding rhabdoid, pediatric brain tumors and childhood cancer are listed below. This should provide a solid foundation and starting place for finding information.


Rhabdoid Resources

Rhabdoid Kids and Angels Home Page- A site maintained by a child’s grandfather since 1998. On this site there is a listing of kids fighting this tumor including pictures, email addresses and many personal websites. There also is a similar angel page. There is also a discussion board regarding rhabdoid tumors.


Emily’s Rhabdoid Page

A web site dedicated to Emily who died of an AT/RT in 2000. The journal is complete from initial symptoms to the end of life. There is a variety of other interesting information including:

  • AT/RT Case Summaries
  • Journal Articles
  • AT/RT, Brain, and Cancer websites

Rhabdoid Registry

The Childhood Oncology Group Registry started as an official registry run by Dr. Joanne Hilden, Dr. Jackie Biegel, and Jan Watterson in 1995 at Saint Paul's Hospital. They are very interested in hearing from any rhabdoid parent whose child is not already listed in their registry. The registry, which will be made available to medical professionals, hopes to document as many rhabdoid cases as possible, an important step in finding the most effective treatment for rhabdoid. The registry started at Children’s Hospital in St. Paul. The main center for registry data collection is now at the Cleveland Clinic Foundation due to Dr. Hilden’s relocation to Chair of the Department of Pediatric Hematology/Oncology.


If your child is diagnosed with rhabdoid one should consider adding his case to the registry. Dr. Hilden can be contacted at 216-444-8407.The Rhabdoid Registry now operates at Cleveland Clinic. This AT/RT Registry is still run by Dr. Joanne Hilden, Chair of Pediatric Hematology/Oncology. It provides a voluntary, free, confidential, central database of information and outcomes on Central Nervous System Atypical Teratoid/Rhabdoid tumors. Below is an 2004 article written on the 42 complete AT/RT cases they have stored.

  • Contact:

Joanne M. Hilden, M.D. (Principal Investigator) Chair, Department of Pediatric Hematology/Oncology/Desk S20 Medical Director, Pediatric Palliative Care Cleveland Clinic Children's Hospital 9500 Euclid Avenue Cleveland OH 44195 Phone: 216-444-8407 Fax: 216-444-5925 E-Mail: hildenj@ccf.org

  • Hilden, Joanne M.; Sharon Meerbaum, Peter Burger, Jonathan Finlay, Anna Janss, Bernd W. Scheithauer, Andrew W. Walter, Lucy B. Rorke, Jaclyn A. Biegel ((July 15)). "Central Nervous System Atypical Teratoid/Rhabdoid Tumor: Results of Therapy in Children Enrolled in a Registry". Journal of Clinical Oncology 22 (14): 2877-2884. DOI:10.1200/JCO.2004.07.073. Retrieved on May 23, 2007. As of 2004 they had complete data on 42 patients.

A digital object identifier (or DOI) is a standard for persistently identifying a piece of intellectual property on a digital network and associating it with related data, the metadata, in a structured extensible way. ...

Virtual Trial (Brain Tumor Registry)

The Brain Tumor Virtual TrialTM is a new concept in collecting and analyzing outcomes data for brain tumor patients. They collect information from brain tumor patients - or their friends / family, over the internet. Participants are not told what treatments to do. They just record and analyze the outcomes of the treatments you and your doctors decide to try. The idea is to enable the registry to quickly identify which treatments or combinations of treatments look the most promising. They intend perform a traditional multi-center study on the best combinations of treatments. Currently they have almost 1,000 cases. If you have any questions or problems, feel free to Virtual Trials at 888-295-4740 10am to 9pm, 7 days a week, NY time!


Workshop on Childhood Atypical Teratoid Rhadoid Tumors of the CNS

This is a listing of the abstract on and participants in a major AT/RT workshop held in January 2001 by the National Cancer Institute and the Office of Rare Disease Abstract. The citation (paper is online) is provided below:

  • Beigel J; Kalpana G, Knudsen E, et al. (2002). "The role of INI and the SWI/SNF complex in the development of rhabdoid tumors: Meeting Summary from the workshop on childhood atypical teratoid rhabdoid tumors" (in English). Cancer Research 2002 (63:): 323-328. 

Pediatric Cancer List Servers

[Electronic mailing list |List Servers] provide a way to communicate to other parents who are dealing with similar experiences. Three of the most common list serves are:

  • Medulloblastoma Yahoogroup: This group has over 800 members and is open to persons interested in childhood brain tumors.
  • Pediatric Brain Tumor YahoogroupThis group has over 100 members and is open to all persons interested in childhood brain tumors.
  • Association of Online Cancer Resources Ped Onc Listserv, this is a listserv for parents dealing with all types of childhood cancer.

Pediatric Brain Tumor Books

  • Childhood brain and spinal cord tumors: A guide for families, friends and caregives, Shiminski-Maher, Cullen, and Sansalone. O’Reilly and Associates. 2002. This almost 550 page book is available for a little more than six dollars on Amazon.com. It is the most comprehensive guide for families that address everything from clinical trials to chemotherapy side effects, from siblings to record keeping.
  • Palliative Care for Infants, Children, and Adolescents: A Practical Handbookby Kathleen M. Foley (Foreword), Brian S. Carter (Editor), Marcia Levetown (Editor); The Johns Hopkins University Press (June 24, 2004) A comprehensive look at pediatric palliative care. It should be a reference textbook that serves as a 'bible' in this area. The book is organized in a way that allows readers from different disciplines to quickly find and peruse chapters relevant to their practice. Given the high mortality rate in AT/RT, pallative care is often necessary.
  • Hospice Care for Children (Hardcover) by Ann Armstrong-Dailey (Editor), Sarah Zarbock (Editor);Oxford University Press, USA; 2 edition (September 24, 2001) Children with life-threatening and terminal illnesses--and their families-- require a unique kind of care to meet a wide variety of needs. This book, the first edition of which won the 1993 Pediatric Nursing Book of the Year Award, provides an authoritative source for the many people involved in caring for dying children

Pediatric Brain Tumor Organizations

  • Brain Tumor Foundation for Children

This organization began as a support group for Egleston Hospital in Atlanta and still has a very big focus on local support to brain tumor parents in the area. There is a newsletter. In May 2002, this organization held a Tools for Living Symposium that was open to all across the country.

  • Childhood Brain Tumor Foundation

This foundation is headquartered in Maryland features a newsletter three times a year, a basic science grant, a biannual family retreat weekend, and a childhood cancer ombudsman program. One of the best features of the website is the article section which has a couple dozen articles of interest to brain tumor parents- none on AT/RTs in particular at this time.

  • Children’s Brain Tumor Foundation

This foundation is based in New York and is a member of the North American Brain Tumor Coalition. The website is easy to use and has practical information such as hospital stays, Parent-to-Parent Support, support group listings (national and internet), links to sites that list clinical trials. They list a willingness to assist in sorting out clinical trial information if one calls (Phone: 212-448-9494 Fax: 212-448-1022 Toll-free: 866-228-HOPE )

  • Pediatric Brain Tumor Foundation of the US

This organization's featured event is the Rides for Kids that raise public awareness through the motorcycle community. They founded PBTF in 1991. Since 1984 they have raised more than $34M for research and family support. Since 2001 they have issued $1M/Year in small Research grants, which often seeds subsequent research. This organization most unique feature is the informed parent internet series which is held live 4 times a year. The various subjects presented are archived on the internet. This organization deals with family support and funds a variety of research projects and conferences. It is a member of the North American Brain Tumor Coalition. There are very few or no other articles that link to this one. ...

  • We Can

We can is a parent support network based out of Los Angeles which offers a veteran parent program, sibs programs, lectures and other events.


Childhood Cancer Organizations and Resources

  • Candlelighters Childhood Cancer Foundation

Phone: 1-800-366-2223 Candlelighter Childhood Cancer Foundation was founded in 1970 by parents who desired an organization to educate, support, and advocate for kids with cancer, their families and the professions who help them. There is a message board, on line newsletters, and resources.

  • Hope Street Kids

Phone: 703-836-4412 Hope Street Kids was founded by Representative Deborah Pryce (Ohio) and her husband after their daughter died from neuroblastoma in 1999. Possibly the best aspect of this website is the parent guide which organizes questions to consider regarding procedures, treatments, and clinical trials. Neuroblastoma is the most common extracranial solid cancer in infancy and childhood. ...

  • Pediatric Oncology Resource Center

This site is a one-stop shopping place for parents of kids with cancer and it has just about everything that a parent would want to know generally about childhood cancer- venous access, blood counts, assistance information, etc.

  • America's Baby Cancer Foundation

This is a relatively new organization which was started to raise awareness of infant cancers by a mom who lost her child to a brain tumor in 2000. It was first called Sebastian's Baby Cancer Foundation, but changed its name in 2002 to America's Baby Cancer Foundation.

  • Pediatric Oncology Resource Center

Site created by a lady called Patty back in 1998 (her son had cancer); it compiles material put together by her and other parents of children with cancer.

  • People Living with Cancer

American Society of Clinical Oncology (ASCO) web site with cancer information for people living with cancer. It is very broad and reasonably comprehensive. It includes both childhood and adult cancers.

  • NCI Childhood Cancers

National Cancer Instituite (NCI) website on cancers, with the webpage focused on childhood cancers.


Hospital Groups which treat Childhood Cancer

  • Pediatric Brain Tumor Consortium

In 1999, the National Cancer Institute funded a nine institution consortium with the “primary objective to rapidly conduct novel phase I and II clinical evaluations of new therapeutic drugs, intrathecal agents, delivery technologies, biological therapies, and radiation treatment strategies in children age 0 – 21 years of age with primary CNS tumors.” Institutional contacts and summary of research protocols are available on the site. In medicine, a clinical trial (synonyms: clinical studies, research protocols, medical research) is the application of the scientific method to human health. ...

  • Children’s Oncology Group

There are 238 Children’s Onocology Group institutions located in almost every state and province in North America and several others around the world. The COG is the US government financed integration of four pediatric brain tumor organizations in 2000. Their Website is called CureSearch. They tend to focus on Phase III and IV clinical studies. The attempt is to pool information together to gain better insight into effective strategies to manage childhood cancer. The Childrens Oncology Group (COG), established in 2000, is a National Cancer Institute-supported cooperative group whose purpose is the study of childhood cancer. ... In medicine, a clinical trial (synonyms: clinical studies, research protocols, medical research) is the application of the scientific method to human health. ...


  Results from FactBites:
 
AboutKidsHealth: News: New treatment options for children with atypical teratoid/rhabdoid tumours (739 words)
ATRT is rare, accounting for less than five percent of all paediatric CNS tumours.
Because ATRT is so rare and its prognosis poor, there are as yet no clear treatment guidelines for the disease.
A central database of information and outcomes for patients with ATRT was recently created by researchers at the Children’s Hospital in Cleveland to help in the development of more effective treatment strategies.
  More results at FactBites »

 
 

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