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1. Ertan Y, Sezak M, Turhan T, Kantar M, Erşahin Y, Mutluer S, Vergin C, Oniz H, Akalin T: Atypical teratoid/rhabdoid tumor of the central nervous system: clinicopathologic and immunohistochemical features of four cases. Childs Nerv Syst; 2009 Jun;25(6):707-11
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Atypical teratoid/rhabdoid tumor of the central nervous system: clinicopathologic and immunohistochemical features of four cases.
  • BACKGROUND: Atypical teratoid/rhabdoid tumor (AT/RT) is a rare aggressive infantile neoplasm of uncertain origin.
  • Histopathologically, the tumors were composed of rhabdoid cells and undifferentiated small cells mixed with epithelial or mesenchymal components.
  • All of the patients died within a mean of 14 months due to tumor progression despite the chemotherapy.
  • Only one of our patients lived for 40 months after the diagnosis.
  • Morphologically, a large spectrum can be seen, like predominantly sarcoma in appearance, but immunohistochemistry is helpful in the correct diagnosis.
  • [MeSH-major] Brain Neoplasms / pathology. Rhabdoid Tumor / pathology. Teratoma / pathology
  • [MeSH-minor] Actins / analysis. Brain / pathology. Brain Chemistry. Child. Child, Preschool. Chromosomal Proteins, Non-Histone / analysis. DNA-Binding Proteins / analysis. Desmin / analysis. Diagnosis, Differential. Female. Glial Fibrillary Acidic Protein / analysis. Humans. Immunohistochemistry. Infant. Keratins / analysis. Male. Mucin-1 / analysis. S100 Proteins / analysis. SMARCB1 Protein. Synaptophysin / analysis. Transcription Factors / analysis. Vimentin / analysis

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  • [CommentIn] Childs Nerv Syst. 2009 Nov;25(11):1387; author reply 1389 [19636570.001]
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  • (PMID = 19212771.001).
  • [ISSN] 1433-0350
  • [Journal-full-title] Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
  • [ISO-abbreviation] Childs Nerv Syst
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Actins; 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / Desmin; 0 / Glial Fibrillary Acidic Protein; 0 / Mucin-1; 0 / S100 Proteins; 0 / SMARCB1 Protein; 0 / SMARCB1 protein, human; 0 / Synaptophysin; 0 / Transcription Factors; 0 / Vimentin; 68238-35-7 / Keratins
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2. Gardner SL, Asgharzadeh S, Green A, Horn B, McCowage G, Finlay J: Intensive induction chemotherapy followed by high dose chemotherapy with autologous hematopoietic progenitor cell rescue in young children newly diagnosed with central nervous system atypical teratoid rhabdoid tumors. Pediatr Blood Cancer; 2008 Aug;51(2):235-40
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Intensive induction chemotherapy followed by high dose chemotherapy with autologous hematopoietic progenitor cell rescue in young children newly diagnosed with central nervous system atypical teratoid rhabdoid tumors.
  • BACKGROUND: Central nervous system (CNS) atypical teratoid rhabdoid tumors (AT/RT) are rare tumors of childhood with a dismal prognosis.
  • Historically, surgery and standard dose chemotherapy have resulted in a median survival of 8.5 months from diagnosis.
  • There are presently three event-free survivors 42+, 54+, and 67+ months following diagnosis; none received RT.
  • [MeSH-major] Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Brain Neoplasms / therapy. Hematopoietic Stem Cell Transplantation. Rhabdoid Tumor / therapy. Teratoma / therapy

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  • (PMID = 18381756.001).
  • [ISSN] 1545-5017
  • [Journal-full-title] Pediatric blood & cancer
  • [ISO-abbreviation] Pediatr Blood Cancer
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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3. Pytel P, Lukas RV: Update on diagnostic practice: tumors of the nervous system. Arch Pathol Lab Med; 2009 Jul;133(7):1062-77
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  • CONTEXT: Changes in the practice of diagnosing brain tumors are formally reflected in the evolution of the World Health Organization classification.
  • The development of new treatment strategies also leads to different questions in the assessment of brain tumors, as seen in the example of pseudoprogression or the changes in tumor growth pattern in patients taking bevacizumab.
  • Finally, the discussion of primitive pediatric tumors stresses the clinical importance of the distinction between different entities, like atypical teratoid rhabdoid tumor, "central" (supratentorial) primitive neuroectodermal tumor, "peripheral" primitive neuroectodermal tumor, and medulloblastoma.
  • [MeSH-major] Brain Neoplasms / diagnosis. Nervous System Neoplasms / diagnosis. World Health Organization
  • [MeSH-minor] Glioblastoma / classification. Glioblastoma / diagnosis. Humans. Medulloblastoma / classification. Medulloblastoma / diagnosis. Oligodendroglioma / classification. Oligodendroglioma / diagnosis. Rhabdoid Tumor / classification. Rhabdoid Tumor / diagnosis

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  • (PMID = 19642733.001).
  • [ISSN] 1543-2165
  • [Journal-full-title] Archives of pathology & laboratory medicine
  • [ISO-abbreviation] Arch. Pathol. Lab. Med.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 139
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4. Fouladi M, Blaney SM, Poussaint TY, Freeman BB 3rd, McLendon R, Fuller C, Adesina AM, Hancock ML, Danks MK, Stewart C, Boyett JM, Gajjar A: Phase II study of oxaliplatin in children with recurrent or refractory medulloblastoma, supratentorial primitive neuroectodermal tumors, and atypical teratoid rhabdoid tumors: a pediatric brain tumor consortium study. Cancer; 2006 Nov 1;107(9):2291-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Phase II study of oxaliplatin in children with recurrent or refractory medulloblastoma, supratentorial primitive neuroectodermal tumors, and atypical teratoid rhabdoid tumors: a pediatric brain tumor consortium study.
  • BACKGROUND: An open-label Phase II study of oxaliplatin was conducted to evaluate its safety and efficacy in children with recurrent or refractory medulloblastoma (MB), supratentorial primitive neuroectodermal tumors (SPNET), and atypical teratoid rhabdoid tumor (ATRT).
  • [MeSH-major] Medulloblastoma / drug therapy. Neoplasm Recurrence, Local / drug therapy. Neuroectodermal Tumors, Primitive / drug therapy. Organoplatinum Compounds / therapeutic use. Rhabdoid Tumor / drug therapy. Supratentorial Neoplasms / drug therapy. Teratoma / drug therapy


5. Biswas A, Goyal S, Puri T, Das P, Sarkar C, Julka PK, Bakhshi S, Rath GK: Atypical teratoid rhabdoid tumor of the brain: case series and review of literature. Childs Nerv Syst; 2009 Nov;25(11):1495-500
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Atypical teratoid rhabdoid tumor of the brain: case series and review of literature.
  • INTRODUCTION: Intracranial atypical teratoid rhabdoid tumor is an uncommon malignancy with a dismal outcome.
  • Commonly misdiagnosed over the decades as primitive neuroectodermal tumor of the brain, it has dramatically different biological behavior.
  • DISCUSSION: We herein report a case series of five patients diagnosed and treated as atypical teratoid rhabdoid tumor of the brain in a major cancer center in north India.
  • We have also analyzed the clinical, histopathological, and radiological features and the therapeutic options of this enigmatic tumor.
  • [MeSH-major] Brain Neoplasms / diagnosis. Brain Neoplasms / pathology. Rhabdoid Tumor / diagnosis. Rhabdoid Tumor / pathology. Teratoma / diagnosis. Teratoma / pathology

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  • (PMID = 19484251.001).
  • [ISSN] 1433-0350
  • [Journal-full-title] Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
  • [ISO-abbreviation] Childs Nerv Syst
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] Germany
  • [Number-of-references] 30
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6. Hasselblatt M, Oyen F, Gesk S, Kordes U, Wrede B, Bergmann M, Schmid H, Frühwald MC, Schneppenheim R, Siebert R, Paulus W: Cribriform neuroepithelial tumor (CRINET): a nonrhabdoid ventricular tumor with INI1 loss and relatively favorable prognosis. J Neuropathol Exp Neurol; 2009 Dec;68(12):1249-55
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Cribriform neuroepithelial tumor (CRINET): a nonrhabdoid ventricular tumor with INI1 loss and relatively favorable prognosis.
  • Atypical teratoid/rhabdoid tumors are malignant embryonal tumors characterized by the presence of rhabdoid cells, genetic alterations affecting the SMARCB1 gene (hSNF5/INI1), and a poor prognosis.
  • Histological and immunohistochemical features did not correspond to established tumor types, including atypical teratoid/rhabdoid tumors, medulloepithelioma, choroid plexus carcinoma, and ependymoma.
  • We suggest that cribriform neuroepithelial tumor (CRINET) is a nonrhabdoid ventricular tumor that shows loss of tumoral INI1 protein and has a relatively favorable prognosis.
  • [MeSH-major] Brain Neoplasms / genetics. Chromosomal Proteins, Non-Histone / genetics. DNA-Binding Proteins / genetics. Fourth Ventricle / pathology. Neoplasms, Neuroepithelial / genetics. Third Ventricle / pathology. Transcription Factors / genetics

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  • (PMID = 19915490.001).
  • [ISSN] 1554-6578
  • [Journal-full-title] Journal of neuropathology and experimental neurology
  • [ISO-abbreviation] J. Neuropathol. Exp. Neurol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / SMARCB1 protein, human; 0 / Transcription Factors
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7. Severino M, Schwartz ES, Thurnher MM, Rydland J, Nikas I, Rossi A: Congenital tumors of the central nervous system. Neuroradiology; 2010 Jun;52(6):531-48
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • They represent less than 2% of all childhood brain tumors.
  • The prenatal diagnosis of congenital CNS tumors, while based on ultrasonography, has significantly benefited from the introduction of prenatal magnetic resonance imaging studies.
  • Teratomas constitute about one third to one half of these tumors and are the most common neonatal brain tumor.
  • Other tumors include astrocytomas, choroid plexus papilloma, primitive neuroectodermal tumors, atypical teratoid/rhabdoid tumors, and medulloblastomas.
  • Differential diagnoses include spontaneous intracranial hemorrhage that can occur in the presence of coagulation factor deficiency or underlying vascular malformations, and congenital brain malformations, especially giant heterotopia.
  • The prognosis for patients with congenital tumors is generally poor, usually because of the massive size of the tumor.
  • [MeSH-major] Central Nervous System Neoplasms / congenital. Central Nervous System Neoplasms / diagnosis. Magnetic Resonance Imaging / methods. Tomography, X-Ray Computed / methods

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  • [ISSN] 1432-1920
  • [Journal-full-title] Neuroradiology
  • [ISO-abbreviation] Neuroradiology
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8. Erickson ML, Johnson R, Bannykh SI, de Lotbiniere A, Kim JH: Malignant rhabdoid tumor in a pregnant adult female: literature review of central nervous system rhabdoid tumors. J Neurooncol; 2005 Sep;74(3):311-9
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  • [Title] Malignant rhabdoid tumor in a pregnant adult female: literature review of central nervous system rhabdoid tumors.
  • Rhabdoid tumors of the central nervous system are uncommon, aggressive childhood malignancies.
  • Central nervous system rhabdoid lesions of adults have been diagnosed as primary malignant rhabdoid tumors, atypical teratoid/rhabdoid tumors, and more recently, rhabdoid glioblastomas.
  • Pathologic evaluation revealed histology, electron microscopy and immunohistochemistry consistent with the diagnosis of malignant rhabdoid tumor.
  • FISH studies were negative for the INI-1 genetic mutations and chromosome 22q deletion associated with childhood atypical rhabdoid/rhabdoid tumor in 75% of cases.
  • We briefly describe the characteristics and current understanding of rhabdoid tumors, and review the literature comparing the 12 other cases of central nervous system rhabdoid tumors in adults.
  • [MeSH-major] Brain Neoplasms / pathology. Pregnancy Complications, Neoplastic / pathology. Rhabdoid Tumor / pathology

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  • (PMID = 16132523.001).
  • [ISSN] 0167-594X
  • [Journal-full-title] Journal of neuro-oncology
  • [ISO-abbreviation] J. Neurooncol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
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9. Hashizume R, Gupta N, Berger MS, Banerjee A, Prados MD, Ayers-Ringler J, James CD, VandenBerg SR: Morphologic and molecular characterization of ATRT xenografts adapted for orthotopic therapeutic testing. Neuro Oncol; 2010 Apr;12(4):366-76
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  • Atypical teratoid rhabdoid tumor (ATRT) is a malignant tumor of the central nervous system that most commonly arises in young children.
  • When established as orthotopic xenografts, the tumors predominantly display cells with a rhabdoid-like cellular morphology that show a spectrum of immunophenotypes similar to primary ATRT tumors.
  • These data suggest that an orthotopic ATRT xenograft model, in which BLI is used for monitoring tumor growth and response to therapy, should contribute to the identification of effective therapeutics and regimens for treating this highly aggressive pediatric brain tumor.

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  • (PMID = 20308314.001).
  • [ISSN] 1523-5866
  • [Journal-full-title] Neuro-oncology
  • [ISO-abbreviation] Neuro-oncology
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / P50CA097257
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Antineoplastic Agents, Alkylating; 7GR28W0FJI / Dacarbazine; 85622-93-1 / temozolomide
  • [Other-IDs] NLM/ PMC2940601
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10. Antonelli M, Cenacchi G, Modena P, Morra I, Forni M, Giangaspero F: Ultrastructural evidence of ependymal differentiation in a genetically proven atypical teratoid/rhabdoid tumor. Childs Nerv Syst; 2009 Dec;25(12):1627-31
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  • [Title] Ultrastructural evidence of ependymal differentiation in a genetically proven atypical teratoid/rhabdoid tumor.
  • INTRODUCTION: We describe a case of genetically proven atypical teratoid/rhabdoid tumor (ATRT), showing ultrastructural evidence of ependymal differentiation.
  • [MeSH-major] Cerebral Ventricle Neoplasms / ultrastructure. Ependyma / ultrastructure. Rhabdoid Tumor / ultrastructure. Teratoma / ultrastructure

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  • (PMID = 19554334.001).
  • [ISSN] 1433-0350
  • [Journal-full-title] Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
  • [ISO-abbreviation] Childs Nerv Syst
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Germany
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11. Mühlisch J, Schwering A, Grotzer M, Vince GH, Roggendorf W, Hagemann C, Sörensen N, Rickert CH, Osada N, Jürgens H, Frühwald MC: Epigenetic repression of RASSF1A but not CASP8 in supratentorial PNET (sPNET) and atypical teratoid/rhabdoid tumors (AT/RT) of childhood. Oncogene; 2006 Feb 16;25(7):1111-7
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  • [Title] Epigenetic repression of RASSF1A but not CASP8 in supratentorial PNET (sPNET) and atypical teratoid/rhabdoid tumors (AT/RT) of childhood.
  • Supratentorial primitive neuroectodermal tumors (sPNET) and atypical teratoid/rhabdoid tumors (AT/RT) of the CNS represent a biological and clinical enigma, despite advances in both molecular techniques and clinical management for these two rare embryonal brain tumors of childhood.
  • In all, 17 samples of autopsy-derived normal appearing brain served as controls.
  • Treatment of cell lines using 5-Aza-2'-deoxycytidine (5AZA) alone or in combination with trichostatin A (TSA) succeeded in re-establishing expression of RASSF1A in cell lines derived from a renal rhabdoid, an AT/RT and a medulloblastoma.
  • However, CASP8 showed inconsistent expression patterns in normal and tumor tissues.
  • [MeSH-major] Brain Neoplasms / genetics. DNA Methylation. Gene Silencing. Neuroectodermal Tumors, Primitive / genetics. Rhabdoid Tumor / genetics. Teratoma / genetics. Tumor Suppressor Proteins / genetics

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  • (PMID = 16186793.001).
  • [ISSN] 0950-9232
  • [Journal-full-title] Oncogene
  • [ISO-abbreviation] Oncogene
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Hydroxamic Acids; 0 / RASSF1 protein, human; 0 / Tumor Suppressor Proteins; 3X2S926L3Z / trichostatin A; 776B62CQ27 / decitabine; EC 3.4.22.- / CASP8 protein, human; EC 3.4.22.- / Caspase 8; EC 3.4.22.- / Caspases; M801H13NRU / Azacitidine
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12. Furchert SE, Lanvers-Kaminsky C, Juürgens H, Jung M, Loidl A, Frühwald MC: Inhibitors of histone deacetylases as potential therapeutic tools for high-risk embryonal tumors of the nervous system of childhood. Int J Cancer; 2007 Apr 15;120(8):1787-94
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  • The authors evaluated the cytotoxicity of histone deacetylase inhibitors (HDI) [MS-275, SAHA, TSA, M344, M360, D85, SW55, SW187 and valproic acid (VPA)] on 13 embryonal tumor cell lines [4 medulloblastomas, 5 neuroblastomas, 2 atypical teratoid/rhabdoid tumors (AT/RT), and 2 malignant rhabdoid tumors of the kidney (RTK)] in MTT assay.
  • HDI inhibited the growth of medulloblastoma, neuroblastoma and rhabdoid tumors in vitro.
  • [MeSH-major] Enzyme Inhibitors / pharmacology. Histone Deacetylase Inhibitors. Medulloblastoma / drug therapy. Medulloblastoma / pathology. Neuroblastoma / drug therapy. Rhabdoid Tumor / drug therapy
  • [MeSH-minor] Acetylation. Annexin A5 / metabolism. Apoptosis / drug effects. Blotting, Western. Brain Neoplasms / drug therapy. Brain Neoplasms / metabolism. Brain Neoplasms / pathology. Cell Line, Tumor. Histones / metabolism. Humans. Polymerase Chain Reaction. Risk Factors. Valproic Acid / pharmacology

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  • [Copyright] (c) 2007 Wiley-Liss, Inc.
  • (PMID = 17230517.001).
  • [ISSN] 0020-7136
  • [Journal-full-title] International journal of cancer
  • [ISO-abbreviation] Int. J. Cancer
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Annexin A5; 0 / Enzyme Inhibitors; 0 / Histone Deacetylase Inhibitors; 0 / Histones; 614OI1Z5WI / Valproic Acid
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13. Lafay-Cousin L, Payne E, Strother D, Chernos J, Chan M, Bernier FP: Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor. Am J Med Genet A; 2009 Dec;149A(12):2855-9
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  • [Title] Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor.
  • Here we report on an infant diagnosed with Goldenhar syndrome (GS) phenotype who developed an atypical teratoid rhabdoid tumor (AT/RT) of the brain due to a distal deletion of the chromosome 22q11.2 region encompassing the INI1/SMARCB1 tumor suppressor.
  • [MeSH-major] Brain Neoplasms / complications. Chromosome Deletion. Chromosomes, Human, Pair 22 / genetics. Goldenhar Syndrome / complications. Rhabdoid Tumor / complications. Teratoma / complications

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  • [CommentIn] Am J Med Genet A. 2011 Feb;155A(2):458 [21271674.001]
  • (PMID = 19938088.001).
  • [ISSN] 1552-4833
  • [Journal-full-title] American journal of medical genetics. Part A
  • [ISO-abbreviation] Am. J. Med. Genet. A
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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14. Sredni ST, Bonaldo Mde F, Costa FF, Huang CC, Hamm CA, Rajaram V, Tomita T, Goldman S, Bischof JM, Soares MB: Upregulation of mir-221 and mir-222 in atypical teratoid/rhabdoid tumors: potential therapeutic targets. Childs Nerv Syst; 2010 Mar;26(3):279-83
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  • [Title] Upregulation of mir-221 and mir-222 in atypical teratoid/rhabdoid tumors: potential therapeutic targets.
  • PURPOSE: The aim of this study is to search for new therapeutic targets for atypical teratoid-rhabdoid tumors (ATRT).
  • METHODS: To achieve this, we compared the expression of 365 microRNAs among ATRT, medulloblastomas, and normal brain.
  • The deregulated expression of miR221/222 was demonstrated to inhibit the expression of the tumor suppressor and inhibitor of cell cycle p27(Kip1).
  • [MeSH-major] Brain / metabolism. Brain Neoplasms / metabolism. MicroRNAs / metabolism. Rhabdoid Tumor / metabolism. Teratoma / metabolism

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  • (PMID = 20012062.001).
  • [ISSN] 1433-0350
  • [Journal-full-title] Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
  • [ISO-abbreviation] Childs Nerv Syst
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / MIRN221 microRNA, human; 0 / MIRN222 microRNA, human; 0 / MicroRNAs; 0 / RNA, Messenger; 0 / SMARCB1 Protein; 0 / SMARCB1 protein, human; 0 / Transcription Factors; 147604-94-2 / Cyclin-Dependent Kinase Inhibitor p27
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15. Takei H, Adesina AM, Mehta V, Powell SZ, Langford LA: Atypical teratoid/rhabdoid tumor of the pineal region in an adult. J Neurosurg; 2010 Aug;113(2):374-9
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  • [Title] Atypical teratoid/rhabdoid tumor of the pineal region in an adult.
  • An atypical teratoid/rhabdoid tumor (AT/RT) is a highly malignant embryonal tumor most often occurring in the posterior fossa in children younger than 3 years of age.
  • Adult cases of AT/RT are very rare, and 27 cases with a diagnosis of either AT/RT or (malignant) rhabdoid tumor have been reported to date.
  • She underwent a subtotal resection of the tumor and was then treated with chemoradiation.
  • Histological sections showed epithelioid cellular sheets of rhabdoid tumor cells with scattered mitotic figures.
  • Immunohistochemically, the tumor cells were diffusely and strongly positive for epithelial membrane antigen and vimentin, and showed focal expression of glial fibrillary acidic protein, pancytokeratin, and neurofilament protein.
  • Histologically, this tumor consisted exclusively of epithelioid tumor cells with rhabdoid features.
  • The differential diagnoses include rhabdoid glioblastoma, metastatic carcinoma, and rhabdoid meningioma.
  • Molecular testing to identify monosomy 22 or deletions of the chromosome 22q11 containing the INI1/hSNF5 gene and/or immunohistochemical staining with INI1 antibody is of great importance for the diagnosis of this tumor.
  • [MeSH-major] Brain Neoplasms / pathology. Pinealoma / pathology. Rhabdoid Tumor / pathology. Teratoma / pathology

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  • (PMID = 19911885.001).
  • [ISSN] 1933-0693
  • [Journal-full-title] Journal of neurosurgery
  • [ISO-abbreviation] J. Neurosurg.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / SMARCB1 protein, human; 0 / Transcription Factors
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16. Behdad A, Perry A: Central nervous system primitive neuroectodermal tumors: a clinicopathologic and genetic study of 33 cases. Brain Pathol; 2010 Mar;20(2):441-50
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  • Central nervous system (CNS) primitive neuroectodermal tumors (PNETs) include supratentorial, brain stem, and spinal cord tumors with medulloblastoma-like histopathology.
  • After re-diagnosis of three infantile cases as atypical teratoid/rhabdoid tumor (AT/RT), 33 remaining CNS PNETs were retrieved for clinicopathologic and fluorescence in situ hybridization studies.
  • [MeSH-major] Brain Neoplasms / genetics. Brain Neoplasms / pathology. Neuroectodermal Tumors, Primitive / genetics. Neuroectodermal Tumors, Primitive / pathology. Spinal Cord Neoplasms / genetics. Spinal Cord Neoplasms / pathology
  • [MeSH-minor] Adolescent. Adult. Aneuploidy. Child. Child, Preschool. Chromosomes, Human, Pair 2. Chromosomes, Human, Pair 22. Chromosomes, Human, Pair 8. Female. Humans. Infant. Male. Middle Aged. Nuclear Proteins / genetics. Oncogene Proteins / genetics. RNA-Binding Protein EWS / genetics. Rhabdoid Tumor / diagnosis. Rhabdoid Tumor / genetics. Rhabdoid Tumor / pathology. Teratoma / diagnosis. Teratoma / genetics. Teratoma / pathology. Young Adult

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  • (PMID = 19725831.001).
  • [ISSN] 1750-3639
  • [Journal-full-title] Brain pathology (Zurich, Switzerland)
  • [ISO-abbreviation] Brain Pathol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Switzerland
  • [Chemical-registry-number] 0 / MYCN protein, human; 0 / Nuclear Proteins; 0 / Oncogene Proteins; 0 / RNA-Binding Protein EWS
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17. Graham C, Tucker C, Creech J, Favours E, Billups CA, Liu T, Fouladi M, Freeman BB 3rd, Stewart CF, Houghton PJ: Evaluation of the antitumor efficacy, pharmacokinetics, and pharmacodynamics of the histone deacetylase inhibitor depsipeptide in childhood cancer models in vivo. Clin Cancer Res; 2006 Jan 1;12(1):223-34
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  • Here, we have evaluated depsipeptide, a natural tetrapeptide HDAC inhibitor, against a panel of pediatric solid tumor models in vivo and evaluated pharmacokinetic and pharmacodynamic variables with tumor sensitivity.
  • EXPERIMENTAL DESIGN: Depsipeptide was administered at the maximum tolerated dose (4.4 mg/kg administered every 7 days x 3 i.v. repeated q21d for a total of two cycles) to scid mice bearing 39 independently derived childhood tumors (9 brain tumors, 11 kidney cancers, 9 rhabdomyosarcomas, 3 neuroblastomas, and 7 osteosarcomas).
  • RESULTS: Of 39 tumors evaluated, three showed objective tumor regressions [two brain tumors (primitive neuroectodermal tumor and atypical teratoid malignant rhabdoid tumor) and one Wilms' tumor].
  • Depsipeptide inhibited growth of many tumor lines but achieved stable disease (<25% increase in volume during treatment cycle 1) in only two tumor models (anaplastic astrocytoma, two rhabdomyosarcomas, and a Wilms' tumor).
  • In two sensitive tumor lines, IRS56 and BT27 (both wild-type p53) p53 increased in treated tumors being maximal at 8 hours and associated with induction of p21(cip1), whereas p53 was stable in tumors with mutant p53.
  • The relatively low objective response rate [3 of 39 (8%) tumor lines showing greater than or equal to partial response and 4 (10%) stable disease] administered at dose levels that give clinically relevant drug exposures suggests that as a single agent depsipeptide may have limited clinical utility against pediatric solid tumors in a first-line setting.
  • [MeSH-minor] Acetylation / drug effects. Animals. Blotting, Western. Cell Line, Tumor. Child. Disease Models, Animal. Female. Histones / drug effects. Humans. Mice. Mice, SCID. Neoplasm Transplantation. Reverse Transcriptase Polymerase Chain Reaction. Tumor Suppressor Protein p53 / drug effects

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  • (PMID = 16397046.001).
  • [ISSN] 1078-0432
  • [Journal-full-title] Clinical cancer research : an official journal of the American Association for Cancer Research
  • [ISO-abbreviation] Clin. Cancer Res.
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / CA21765; United States / NCI NIH HHS / CA / CA23099; United States / NCI NIH HHS / CA / CA96696
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Depsipeptides; 0 / Enzyme Inhibitors; 0 / Histones; 0 / Tumor Suppressor Protein p53; EC 3.5.1.98 / Histone Deacetylases
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18. Donson AM, Erwin NS, Kleinschmidt-DeMasters BK, Madden JR, Addo-Yobo SO, Foreman NK: Unique molecular characteristics of radiation-induced glioblastoma. J Neuropathol Exp Neurol; 2007 Aug;66(8):740-9
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  • Despite the inability of histologic and molecular genetic studies to identify distinguishing features between RIGs and pediatric GBMs, gene microarrays suggested significant differences between these 2 tumor types, at least those occurring in pediatric patients.
  • Greater overlap was detected in gene expression patterns between RIGs and pilocytic astrocytomas than between RIGs and GBMs, medulloblastomas, ependymomas, atypical teratoid rhabdoid tumors, or rhabdomyosarcomas, suggesting a common precursor cell for RIG and pilocytic astrocytoma.
  • [MeSH-major] Brain Neoplasms / secondary. Gene Expression Regulation, Neoplastic. Glioblastoma / secondary. Radiation

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  • (PMID = 17882018.001).
  • [ISSN] 0022-3069
  • [Journal-full-title] Journal of neuropathology and experimental neurology
  • [ISO-abbreviation] J. Neuropathol. Exp. Neurol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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19. Las Heras F, Pritzker KP: Adult variant of atypical teratoid/rhabdoid tumor: immunohistochemical and ultrastructural confirmation of a rare tumor in the sella tursica. Pathol Res Pract; 2010 Nov 15;206(11):788-91
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  • [Title] Adult variant of atypical teratoid/rhabdoid tumor: immunohistochemical and ultrastructural confirmation of a rare tumor in the sella tursica.
  • Atypical teratoid/rhabdoid tumor (AT/RT) is a distinctive neoplasm of young children characterized by diverse histology and fatal course.
  • INI1 protein expression was immunohistochemically determined on tumor tissue.
  • The tumor was composed of large atypical "rhabdoid" cells having macronucleoli and abundant eosinophilic cytoplasm.
  • Immunohistochemistry showed that the tumor cells were positive for vimentin, CD34, CD99, and reacted variably for keratin, synaptophysin, NSE, and SMA.
  • The tumor cells lacked nuclear expression of INI1.
  • AT/RT should be considered when dealing with a malignant neoplasm with rhabdoid features, regardless of age.
  • Lack of nuclear INI1 protein expression by immunohistochemical methods is required for a reliable diagnosis.
  • [MeSH-major] Brain Neoplasms / pathology. Rare Diseases. Rhabdoid Tumor / pathology. Sella Turcica / pathology. Teratoma / pathology
  • [MeSH-minor] Biomarkers, Tumor / metabolism. Carcinosarcoma / diagnosis. Diagnosis, Differential. Female. Humans. Middle Aged. Neuroectodermal Tumors, Primitive / diagnosis

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  • [Copyright] Copyright © 2010 Elsevier GmbH. All rights reserved.
  • (PMID = 20705400.001).
  • [ISSN] 1618-0631
  • [Journal-full-title] Pathology, research and practice
  • [ISO-abbreviation] Pathol. Res. Pract.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Biomarkers, Tumor
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20. Fujisawa H, Misaki K, Takabatake Y, Hasegawa M, Yamashita J: Cyclin D1 is overexpressed in atypical teratoid/rhabdoid tumor with hSNF5/INI1 gene inactivation. J Neurooncol; 2005 Jun;73(2):117-24
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  • [Title] Cyclin D1 is overexpressed in atypical teratoid/rhabdoid tumor with hSNF5/INI1 gene inactivation.
  • OBJECT: Although atypical teratoid/rhabdoid tumor (AT/RT) is known to generate through inactivation of the hSNF5/INI1 gene on chromosome 22q, the downstream molecular mechanism remains unclear.
  • We histologically and molecularly reviewed our pediatric brain tumors for unrecognized AT/RTs and evaluated the role of cyclin D1, a potential molecular target of hSNF5/INI1.
  • Because of the presence of rhabdoid cells and the polyimmunophenotypic features, the diagnosis was revised to AT/RT in five (31%) tumors, namely, two E IIIs and one each of medulloblastoma, CPC and pineoblastoma.
  • [MeSH-major] Central Nervous System Neoplasms / genetics. Chromosomes, Human, Pair 22 / genetics. Cyclin D1 / metabolism. DNA-Binding Proteins / genetics. Rhabdoid Tumor / genetics. Teratoma / genetics. Transcription Factors / genetics

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  • [ISSN] 0167-594X
  • [Journal-full-title] Journal of neuro-oncology
  • [ISO-abbreviation] J. Neurooncol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / SMARCB1 Protein; 0 / SMARCB1 protein, human; 0 / Transcription Factors; 136601-57-5 / Cyclin D1
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21. MacDonald TJ: Aggressive infantile embryonal tumors. J Child Neurol; 2008 Oct;23(10):1195-204
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  • Embryonal tumors are the most common brain tumors in infants less than 36 months.
  • Histologically characterized as undifferentiated small, round cell tumors with divergent patterns of differentiation, these include medulloblastoma, the most common form of embryonal tumor, as well as supratentorial primitive neuroectodermal tumor, medulloepithelioma, ependymoblastoma, medullomyoblastoma, melanotic medulloblastoma, and atypical teratoid/rhabdoid tumor.
  • Outcomes remain similarly poor among all the tumor types and, therefore, identification of specific molecular targets that have prognostic and therapeutic implications is crucial.
  • The molecular and clinical aspects of the 3 most common aggressive infantile embryonal tumors, medulloblastoma, supratentorial primitive neuroectodermal tumor, and atypical teratoid/rhabdoid tumor, are the focus of this review.

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  • (PMID = 18952586.001).
  • [ISSN] 1708-8283
  • [Journal-full-title] Journal of child neurology
  • [ISO-abbreviation] J. Child Neurol.
  • [Language] ENG
  • [Grant] United States / NINDS NIH HHS / NS / R13 NS040925; United States / NINDS NIH HHS / NS / 5R13NS040925-09
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Biomarkers, Tumor
  • [Number-of-references] 70
  • [Other-IDs] NLM/ NIHMS473079; NLM/ PMC3674573
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22. Sathyamoorthi S, Morales J, Bermudez J, McBride L, Luquette M, McGoey R, Oates N, Hales S, Biegel JA, Lacassie Y: Array analysis and molecular studies of INI1 in an infant with deletion 22q13 (Phelan-McDermid syndrome) and atypical teratoid/rhabdoid tumor. Am J Med Genet A; 2009 May;149A(5):1067-9
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  • [Title] Array analysis and molecular studies of INI1 in an infant with deletion 22q13 (Phelan-McDermid syndrome) and atypical teratoid/rhabdoid tumor.

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  • [Cites] J Neurosurg. 1996 Jul;85(1):56-65 [8683283.001]
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  • (PMID = 19334084.001).
  • [ISSN] 1552-4833
  • [Journal-full-title] American journal of medical genetics. Part A
  • [ISO-abbreviation] Am. J. Med. Genet. A
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / CA046274-20; United States / NCI NIH HHS / CA / R01 CA046274; United States / NCI NIH HHS / CA / R01 CA046274-20
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / SMARCB1 protein, human; 0 / Transcription Factors
  • [Other-IDs] NLM/ NIHMS293509; NLM/ PMC3102295
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23. Honda M, Baba H, Yonekura M, Iseki M: Cerebral composite atypical teratoid/rhabdoid tumor and yolk sac tumor in the frontal lobe of an infant. Case report. Neurol Med Chir (Tokyo); 2005 Jun;45(6):318-21
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  • [Title] Cerebral composite atypical teratoid/rhabdoid tumor and yolk sac tumor in the frontal lobe of an infant. Case report.
  • A 1-year-old male infant presented with a rare cerebral composite tumor consisting of atypical teratoid/rhabdoid tumor (AT/RT) with epithelial and mesenchymal components and yolk sac tumor (YST) with Schiller-Duval bodies.
  • Computed tomography and magnetic resonance imaging revealed a large, intra-axial solid tumor with a cyst in the left frontal lobe.
  • Total resection of the tumor was performed.
  • Histological examination showed two different main growth patterns: solid sheets of undifferentiated polygonal cells and a few rhabdoid cells with rosette structures and rhabdomyoblastic cells; and reticular or papillary structures with occasional Schiller-Duval bodies in a myxoid matrix.
  • Initial total resection of the tumor was subsequently followed by local recurrence, hydrocephalus, and spinal metastasis.
  • [MeSH-major] Brain Neoplasms / pathology. Endodermal Sinus Tumor / pathology. Frontal Lobe / pathology. Rhabdoid Tumor / pathology. Teratoma / pathology

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  • (PMID = 15973067.001).
  • [ISSN] 0470-8105
  • [Journal-full-title] Neurologia medico-chirurgica
  • [ISO-abbreviation] Neurol. Med. Chir. (Tokyo)
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Japan
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24. Chacko G, Chacko AG, Dunham CP, Judkins AR, Biegel JA, Perry A: Atypical teratoid/rhabdoid tumor arising in the setting of a pleomorphic xanthoastrocytoma. J Neurooncol; 2007 Sep;84(2):217-22
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  • [Title] Atypical teratoid/rhabdoid tumor arising in the setting of a pleomorphic xanthoastrocytoma.
  • We present a case of a 23-year-old man with a tumor containing glial and rhabdoid elements where the former had features of a pleomorphic xanthoastrocytoma (PXA) and the latter had the immunophenotype and genetic profile of an atypical rhabdoid/teratoid tumor.
  • We speculate that the PXA was a quiescent tumor and that the secondary genetic alterations, including inactivation of the INI1 gene led to clinical progression.
  • [MeSH-major] Astrocytoma / pathology. Brain Neoplasms / pathology. Neoplasms, Multiple Primary / pathology. Rhabdoid Tumor / pathology. Teratoma / pathology

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  • (PMID = 17431546.001).
  • [ISSN] 0167-594X
  • [Journal-full-title] Journal of neuro-oncology
  • [ISO-abbreviation] J. Neurooncol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / SMARCB1 Protein; 0 / SMARCB1 protein, human; 0 / Transcription Factors
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25. Woehrer A, Slavc I, Waldhoer T, Heinzl H, Zielonke N, Czech T, Benesch M, Hainfellner JA, Haberler C, Austrian Brain Tumor Registry: Incidence of atypical teratoid/rhabdoid tumors in children: a population-based study by the Austrian Brain Tumor Registry, 1996-2006. Cancer; 2010 Dec 15;116(24):5725-32
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  • [Title] Incidence of atypical teratoid/rhabdoid tumors in children: a population-based study by the Austrian Brain Tumor Registry, 1996-2006.
  • BACKGROUND: Atypical teratoid/rhabdoid tumors are highly malignant embryonal central nervous system (CNS) tumors that were defined as an entity in 1996.
  • Atypical teratoid/rhabdoid tumors display a complex histomorphology, which renders them prone to misdiagnosis.
  • METHODS: A nation-wide survey of malignant high-grade CNS tumors (World Health Organization grade III/IV), diagnosed in children (aged birth to 14 years) from 1996 to 2006 was conducted by the Austrian Brain Tumor Registry.
  • Atypical teratoid/rhabdoid tumors constituted the sixth most common entity (6.1%), referring to an age-standardized incidence rate of 1.38 per 1,000,000 person-years in children.
  • A total of 47.4% of atypical teratoid/rhabdoid tumors were initially diagnosed, whereas 52.6% were retrospectively detected by the central review.
  • The 5-year survival of atypical teratoid/rhabdoid tumor patients was 39.5%, with 66.7% in the correctly diagnosed group versus 15.0% in the not recognized group (P = .0469).
  • CONCLUSIONS: Clinicians and pathologists should be aware of the high incidence of atypical teratoid/rhabdoid tumors in young children to optimize diagnostic and therapeutic management of patients with these tumors.
  • [MeSH-major] Brain Neoplasms / epidemiology. Rhabdoid Tumor / epidemiology. Teratoma / epidemiology

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  • [Copyright] Copyright © 2010 American Cancer Society.
  • (PMID = 20737418.001).
  • [ISSN] 0008-543X
  • [Journal-full-title] Cancer
  • [ISO-abbreviation] Cancer
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Investigator] Azizi AA; Scarpatetti M; Ebetsberger G; Weis S; Jones N; Klein-Franke A; Sterlacci W; Jauk B; Kiefer A; Mueller G; Gruber-Moesenbacher U; Reiner-Concin A; Feichtinger H
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26. Takei H, Bhattacharjee MB, Rivera A, Dancer Y, Powell SZ: New immunohistochemical markers in the evaluation of central nervous system tumors: a review of 7 selected adult and pediatric brain tumors. Arch Pathol Lab Med; 2007 Feb;131(2):234-41
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  • [Title] New immunohistochemical markers in the evaluation of central nervous system tumors: a review of 7 selected adult and pediatric brain tumors.
  • CONTEXT: Immunohistochemistry (IHC) has become an important tool in the diagnosis of brain tumors.
  • DATA SYNTHESIS: We review the features of new, useful or potentially applicable marker antibodies as well as the new uses of already established antibodies in the area of diagnostic neuro-oncologic pathology, focusing on the use of IHC for differential diagnosis and prognosis.
  • We discuss (1) placental alkaline phosphatase, c-Kit, and OCT4 for germinoma, (2) alpha-inhibin and D2-40 for capillary hemangioblastoma, (3) phosphohistone-H3 (PHH3), MIB-1/Ki-67, and claudin-1 for meningioma, (4) PHH3, MIB-1/Ki-67, and p53 for astrocytoma, (5) synaptophysin, microtubule-associated protein 2, neurofilament protein, and neuronal nuclei for medulloblastoma, (6) INI1 for atypical teratoid/rhabdoid tumor, and (7) epithelial membrane antigen for ependymoma.
  • All the markers presented here are used mainly for supporting or confirming the diagnosis, with the exception of the proliferation markers (MIB-1/Ki-67 and PHH3), which are primarily used to support grading and are reportedly associated with prognosis in certain categories of brain tumors.
  • CONCLUSIONS: Although conventional hematoxylin-eosin staining is the mainstay for pathologic diagnosis, IHC has played a major role in differential diagnosis and in improving diagnostic accuracy not only in general surgical pathology but also in neuro-oncologic pathology.
  • In addition, IHC is also of great help in predicting the prognosis for certain brain tumors.
  • [MeSH-major] Biomarkers, Tumor / analysis. Central Nervous System Neoplasms / diagnosis. Central Nervous System Neoplasms / metabolism. Immunohistochemistry
  • [MeSH-minor] Adult. Antibodies. Astrocytoma / diagnosis. Astrocytoma / metabolism. Child. Diagnosis, Differential. Ependymoma / diagnosis. Ependymoma / metabolism. Germinoma / diagnosis. Germinoma / metabolism. Hemangioblastoma / diagnosis. Hemangioblastoma / metabolism. Humans. Medulloblastoma / diagnosis. Medulloblastoma / metabolism. Meningioma / diagnosis. Meningioma / metabolism. Rhabdoid Tumor / diagnosis. Rhabdoid Tumor / metabolism

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  • (PMID = 17284108.001).
  • [ISSN] 1543-2165
  • [Journal-full-title] Archives of pathology & laboratory medicine
  • [ISO-abbreviation] Arch. Pathol. Lab. Med.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antibodies; 0 / Biomarkers, Tumor
  • [Number-of-references] 96
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27. Shih CS, Hale GA, Gronewold L, Tong X, Laningham FH, Gilger EA, Srivastava DK, Kun LE, Gajjar A, Fouladi M: High-dose chemotherapy with autologous stem cell rescue for children with recurrent malignant brain tumors. Cancer; 2008 Mar 15;112(6):1345-53
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  • [Title] High-dose chemotherapy with autologous stem cell rescue for children with recurrent malignant brain tumors.
  • RESULTS: The median age at diagnosis was 4.5 years (range, 0.4-16.6 years) and that at ASCR was 6.7 years (range, 1.1-18.5 years).
  • Diagnoses included medulloblastoma (13 patients), primitive neuroectodermal tumor (3 patients), pineoblastoma (2 patients), atypical teratoid rhabdoid tumor (2 patients), ependymoma (3 patients), anaplastic astrocytoma (2 patients), and glioblastoma multiforme (2 patients).
  • The 5-year PFS rate for patients aged<3 years at diagnosis (57.1%) was significantly better than older patients (5.0%) (P=.019).
  • Among the 6 long-term survivors (5 with M0 disease and 1 with M3 disease at diagnosis), 5 received both radiotherapy and HDCT as part of their salvage regimen; 4 were aged<3 years at diagnosis and had received chemotherapy only as part of frontline therapy.
  • [MeSH-major] Antineoplastic Combined Chemotherapy Protocols / administration & dosage. Brain Neoplasms / therapy. Stem Cell Transplantation
  • [MeSH-minor] Adolescent. Child. Child, Preschool. Combined Modality Therapy. Disease-Free Survival. Ependymoma / diagnosis. Ependymoma / therapy. Female. Follow-Up Studies. Glioblastoma / diagnosis. Humans. Infant. Male. Medulloblastoma / pathology. Medulloblastoma / therapy. Neuroectodermal Tumors, Primitive / diagnosis. Neuroectodermal Tumors, Primitive / therapy. Pinealoma / pathology. Pinealoma / therapy. Retrospective Studies. Rhabdoid Tumor / pathology. Rhabdoid Tumor / therapy. Salvage Therapy. Survival Rate. Transplantation, Autologous. Treatment Outcome


28. Umredkar A, Bal A, Vashista RK: Atypical teratoid/rhabdoid tumour of the central nervous system in adult: case report. Br J Neurosurg; 2010 Dec;24(6):699-704
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  • [Title] Atypical teratoid/rhabdoid tumour of the central nervous system in adult: case report.
  • Atypical teratoid/rhabdoid tumours (AT/RT) are aggressive neoplasms of the central nervous system occurring mainly in the paediatric population.
  • This unusual presentation underlines the necessity of considering this devastating neoplasm in the differential diagnosis of malignant brain tumours of adults.
  • [MeSH-major] Central Nervous System Neoplasms / pathology. Rhabdoid Tumor / pathology. Teratoma / pathology

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  • (PMID = 21070155.001).
  • [ISSN] 1360-046X
  • [Journal-full-title] British journal of neurosurgery
  • [ISO-abbreviation] Br J Neurosurg
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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29. Eberhart CG, Chaudhry A, Daniel RW, Khaki L, Shah KV, Gravitt PE: Increased p53 immunopositivity in anaplastic medulloblastoma and supratentorial PNET is not caused by JC virus. BMC Cancer; 2005 Feb 17;5:19
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  • We correlated p53 protein expression with pathological subtype and clinical outcome in 75 embryonal brain tumors.
  • METHODS: p53 protein levels were evaluated semi-quantitatively in 64 medulloblastomas, 3 atypical teratoid rhabdoid tumors (ATRT), and 8 supratentorial primitive neuroectodermal tumors (sPNET) using immunohistochemistry.
  • No JC virus was identified in the embryonal brain tumor samples, while an endogenous human retrovirus (ERV-3) was readily detected.

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  • (PMID = 15717928.001).
  • [ISSN] 1471-2407
  • [Journal-full-title] BMC cancer
  • [ISO-abbreviation] BMC Cancer
  • [Language] ENG
  • [Grant] United States / NINDS NIH HHS / NS / K08 NS043279; United States / NINDS NIH HHS / NS / K08NS43279
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Tumor Suppressor Protein p53
  • [Other-IDs] NLM/ PMC554768
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30. Finkelstein-Shechter T, Gassas A, Mabbott D, Huang A, Bartels U, Tabori U, Janzen L, Hawkins C, Taylor M, Bouffet E: Atypical teratoid or rhabdoid tumors: improved outcome with high-dose chemotherapy. J Pediatr Hematol Oncol; 2010 Jul;32(5):e182-6
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  • [Title] Atypical teratoid or rhabdoid tumors: improved outcome with high-dose chemotherapy.
  • PURPOSE: To retrospectively review an institutional experience in managing atypical teratoid/rhabdoid tumors (AT/RT) of the Central Nervous System with high-dose chemotherapy in infants and children less than 4 years old.
  • Tumor location was supratentorial in 3 cases, infratentorial in 3 cases, and multifocal in 2 patients.
  • RESULTS: At a median follow-up of 52 months, 4 patients are alive without evidence of tumor.
  • [MeSH-major] Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Brain Neoplasms / drug therapy. Rhabdoid Tumor / drug therapy. Teratoma / drug therapy

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  • [ErratumIn] J Pediatr Hematol Oncol. 2011 Jul;33(5):400. Laura, Janzen [corrected to Janzen, Laura]
  • (PMID = 20495479.001).
  • [ISSN] 1536-3678
  • [Journal-full-title] Journal of pediatric hematology/oncology
  • [ISO-abbreviation] J. Pediatr. Hematol. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 5J49Q6B70F / Vincristine; 6PLQ3CP4P3 / Etoposide; 8N3DW7272P / Cyclophosphamide; Q20Q21Q62J / Cisplatin
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31. Handrup MM, Schrøder H: [Rare brain tumour in 6-month-old girl]. Ugeskr Laeger; 2009 Feb 2;171(6):437
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  • [Title] [Rare brain tumour in 6-month-old girl].
  • Histology showed an atypical teratoid/rhabdoid tumour (AT/RT).
  • AT/RT is a very rare tumor of the brain.
  • [MeSH-major] Brain Neoplasms / radiography. Rhabdoid Tumor / radiography. Teratoma / radiography

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  • (PMID = 19208337.001).
  • [ISSN] 1603-6824
  • [Journal-full-title] Ugeskrift for laeger
  • [ISO-abbreviation] Ugeskr. Laeg.
  • [Language] dan
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Denmark
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32. Benesch M, Siegler N, Hoff Kv, Lassay L, Kropshofer G, Müller H, Sommer C, Rutkowski S, Fleischhack G, Urban C: Safety and toxicity of intrathecal liposomal cytarabine (Depocyte) in children and adolescents with recurrent or refractory brain tumors: a multi-institutional retrospective study. Anticancer Drugs; 2009 Oct;20(9):794-9
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  • [Title] Safety and toxicity of intrathecal liposomal cytarabine (Depocyte) in children and adolescents with recurrent or refractory brain tumors: a multi-institutional retrospective study.
  • This retrospective study aimed to evaluate the safety and toxicity of intrathecal liposomal cytarabine (Depocyte) in children and adolescents with refractory or recurrent brain tumors.
  • Nineteen heavily pretreated patients (males, n = 14; females, n = 5; median age at diagnosis 8.5 years; range, 1.4-22 years) were given intrathecal liposomal cytarabine on a compassionate use basis for recurrent refractory medulloblastoma (n = 12), mixed germ cell tumor (n = 2), central nervous system primitive neuroectodermal tumors of the pons (n = 1), anaplastic ependymoma (n = 1), anaplastic oligodendroglioma (n = 1), atypical teratoid rhabdoid tumor (n = 1), or rhabdoid papillary meningioma (n = 1).
  • In conclusion, although intrathecal liposomal cytarabine was generally well tolerated, it should be used cautiously and only with dexamethasone prophylaxis in extensively pretreated patients with recurrent brain tumors.
  • [MeSH-major] Antimetabolites, Antineoplastic / adverse effects. Brain Neoplasms / drug therapy. Cytarabine / administration & dosage. Cytarabine / adverse effects

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  • (PMID = 19617818.001).
  • [ISSN] 1473-5741
  • [Journal-full-title] Anti-cancer drugs
  • [ISO-abbreviation] Anticancer Drugs
  • [Language] eng
  • [Publication-type] Clinical Trial; Journal Article; Multicenter Study
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Antimetabolites, Antineoplastic; 0 / Delayed-Action Preparations; 0 / Liposomes; 04079A1RDZ / Cytarabine
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33. Pipp I, Wagner L, Rössler K, Budka H, Preusser M: Secretagogin expression in tumours of the human brain and its coverings. APMIS; 2007 Apr;115(4):319-26
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  • [Title] Secretagogin expression in tumours of the human brain and its coverings.
  • Secretagogin is a recently described calcium-binding protein, which is expressed in some neurons of the human brain.
  • In this study we systematically investigated secretagogin expression in 245 tumours of the human brain and its coverings using immunohistochemistry.
  • We detected no secretagogin expression in fibrillary astrocytoma, pilocytic astrocytoma, DNT, pineocytoma, pineoblastoma, subependymal giant cell astrocytoma (SEGA), atypical teratoid/rhabdoid tumour (AT/RT), or primary central nervous system lymphoma (PCNSL).
  • We conclude that secretagogin is differentially expressed in human neuronal, glial, and embryonal brain tumours, meningial neoplasms and pituitary adenomas.
  • Our findings indicate that secretagogin is involved in the calcium metabolism of tumour cells and endothelial cells in a subset of neoplasms of the brain and its coverings.
  • [MeSH-major] Biomarkers, Tumor / analysis. Brain Neoplasms / diagnosis. Calcium-Binding Proteins / analysis

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  • (PMID = 17504298.001).
  • [ISSN] 0903-4641
  • [Journal-full-title] APMIS : acta pathologica, microbiologica, et immunologica Scandinavica
  • [ISO-abbreviation] APMIS
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Denmark
  • [Chemical-registry-number] 0 / Biomarkers, Tumor; 0 / Calcium-Binding Proteins; 0 / SCGN protein, human; 0 / Secretagogins
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34. Bouvier C, De Paula AM, Fernandez C, Quilichini B, Scavarda D, Gentet JC, Figarella-Branger D: Atypical teratoid/rhabdoid tumour: 7-year event-free survival with gross total resection and radiotherapy in a 7-year-old boy. Childs Nerv Syst; 2008 Jan;24(1):143-7
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  • [Title] Atypical teratoid/rhabdoid tumour: 7-year event-free survival with gross total resection and radiotherapy in a 7-year-old boy.
  • The tumour was composed of sheets of rhabdoid cells which diffusely expressed vimentin and focally epithelial membrane antigen (EMA) and alpha-smooth actin by immunohistochemistry.
  • Small foci of rhabdoid cells were found.
  • Molecular techniques performed on frozen specimen of the orbital tumour confirmed the diagnosis of atypical teratoid/rhabdoid tumour (ATRT).
  • DISCUSSION: We discuss the pathological criteria for diagnosis of ATRT and the usefulness of early radiotherapy in the light of the recent literature.
  • [MeSH-major] Brain Neoplasms / diagnosis. Teratoma / diagnosis
  • [MeSH-minor] Actins / analysis. Child. Combined Modality Therapy. Diagnosis, Differential. Frontal Lobe / chemistry. Frontal Lobe / radiation effects. Frontal Lobe / surgery. Humans. Immunohistochemistry. Male. Mucin-1 / analysis. Muscle, Smooth / chemistry. Rhabdoid Tumor / diagnosis. Rhabdoid Tumor / radiotherapy. Rhabdoid Tumor / surgery. Treatment Outcome. Vimentin / analysis

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  • (PMID = 17968559.001).
  • [ISSN] 1433-0350
  • [Journal-full-title] Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
  • [ISO-abbreviation] Childs Nerv Syst
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Actins; 0 / Mucin-1; 0 / Vimentin
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35. Jackson EM, Shaikh TH, Zhang F, Wainwright LM, Storm PB, Hakonarson H, Zackai EH, Biegel JA: Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome. Am J Med Genet A; 2007 Aug 1;143A(15):1767-70
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  • [Title] Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome.
  • Here we describe a patient with BWS who developed a central nervous system atypical teratoid/rhabdoid tumor (AT/RT).
  • Due to the high propensity of these patients to develop childhood tumors, in addition to routine diagnostic tests, analysis of the tumor DNA using the Illumina Infinium whole-genome genotyping 550K Beadchip was performed to investigate a possible common underlying mechanism for his BWS and AT/RT.
  • The only alteration detected was monosomy 22, which was accompanied by a somatic mutation in the INI1 rhabdoid tumor gene.
  • [MeSH-major] Beckwith-Wiedemann Syndrome / genetics. Rhabdoid Tumor / complications. Teratoma / complications
  • [MeSH-minor] Brain / radiography. Humans. Infant. Male. Tomography, X-Ray Computed. Treatment Outcome

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  • [Copyright] (c) 2007 Wiley-Liss, Inc.
  • (PMID = 17603804.001).
  • [ISSN] 1552-4833
  • [Journal-full-title] American journal of medical genetics. Part A
  • [ISO-abbreviation] Am. J. Med. Genet. A
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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36. Parmar H, Hawkins C, Bouffet E, Rutka J, Shroff M: Imaging findings in primary intracranial atypical teratoid/rhabdoid tumors. Pediatr Radiol; 2006 Feb;36(2):126-32
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  • [Title] Imaging findings in primary intracranial atypical teratoid/rhabdoid tumors.
  • BACKGROUND: Intracranial atypical teratoid/rhabdoid tumors (AT/RT) are rare and extremely aggressive neoplasms seen primarily in childhood.
  • However, correct diagnosis of AT/RT is important because these tumors have a markedly different clinical prognosis and require more aggressive therapy.
  • There was also a high tendency for subarachnoid dissemination, with five patients (46%) demonstrating brain and/or spinal metastasis.
  • But a high tendency toward large size, a hyperdense solid component on CT scan with calcification, hemorrhage, necrosis and subarachnoid spread suggest that this tumor should be considered in the differential diagnosis of large pediatric intracranial tumors.
  • [MeSH-major] Magnetic Resonance Imaging. Neuroectodermal Tumors, Primitive / diagnosis. Rhabdoid Tumor / diagnosis. Skull / pathology. Teratoma / diagnosis. Tomography, X-Ray Computed
  • [MeSH-minor] Adolescent. Child. Child, Preschool. Diagnosis, Differential. Female. Humans. Infant. Infant, Newborn. Male. Retrospective Studies

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  • (PMID = 16341528.001).
  • [ISSN] 0301-0449
  • [Journal-full-title] Pediatric radiology
  • [ISO-abbreviation] Pediatr Radiol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Germany
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37. Patereli A, Alexiou GA, Stefanaki K, Moschovi M, Doussis-Anagnostopoulou I, Prodromou N, Karentzou O: Expression of epidermal growth factor receptor and HER-2 in pediatric embryonal brain tumors. Pediatr Neurosurg; 2010;46(3):188-92
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  • [Title] Expression of epidermal growth factor receptor and HER-2 in pediatric embryonal brain tumors.
  • BACKGROUND/AIMS: Medulloblastomas (MBs), atypical teratoid rhabdoid tumors (AT/RTs) and central nervous system primitive neuroectodermal tumors (PNETs) are aggressive embryonal brain neoplasms in children with overlapping histological features but with different pathogenetic pathways.
  • The immunohistochemical expression of EGFR and HER-2 was correlated to histology, expression of the Ki-67/MIB-1 proliferative index, p53 tumor suppressor oncoprotein and prognosis.
  • [MeSH-major] Brain Neoplasms / metabolism. Carcinoma, Embryonal / metabolism. Receptor, Epidermal Growth Factor / metabolism. Receptor, ErbB-2 / metabolism
  • [MeSH-minor] Adolescent. Child. Child, Preschool. Female. Follow-Up Studies. Humans. Infant. Infant, Newborn. Ki-67 Antigen / metabolism. Male. Prognosis. Retrospective Studies. Risk Factors. Tumor Suppressor Protein p53 / metabolism


38. Wang Z, Fan QH, Yu MN, Zhang WM: [Clinicopathologic and immunohistochemical study of atypical teratoid/rhabdoid tumor of central nervous system]. Zhonghua Bing Li Xue Za Zhi; 2006 Aug;35(8):458-61
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  • [Title] [Clinicopathologic and immunohistochemical study of atypical teratoid/rhabdoid tumor of central nervous system].
  • OBJECTIVE: To study the clinicopathologic features and differential diagnosis of atypical teratoid/rhabdoid tumor (AT/RT) occurring in the central nervous system.
  • RESULTS: Histologically, AT/RT was characterized by the presence of rhabdoid cells associated with various degrees of primitive neuroectodermal, epithelial or mesenchymal differentiation.
  • The tumor cells were positive for vimentin, CD99, epithelial membrane antigen, cytokeratin, glial fibrillary acidic protein, S-100 protein, neurofilament, desmin and smooth muscle actin.
  • CONCLUSIONS: AT/RT is a highly malignant tumor occurring in the central nervous system.
  • The tumor is characterized by a heterogeneous histologic and immunohistochemical phenotype.
  • It needs to be distinguished from a number of central nervous system tumors, including medulloblastoma, primitive neuroectodermal tumor, germ cell neoplasm and rhabdoid meningioma.
  • [MeSH-major] Brain Neoplasms / pathology. Rhabdoid Tumor / pathology. Teratoma / pathology

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  • (PMID = 17069697.001).
  • [ISSN] 0529-5807
  • [Journal-full-title] Zhonghua bing li xue za zhi = Chinese journal of pathology
  • [ISO-abbreviation] Zhonghua Bing Li Xue Za Zhi
  • [Language] chi
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] China
  • [Chemical-registry-number] 0 / Actins; 0 / Antigens, CD; 0 / CD99 protein, human; 0 / Cell Adhesion Molecules; 0 / Desmin; 0 / Glial Fibrillary Acidic Protein; 0 / Mucin-1; 0 / Neurofilament Proteins; 0 / S100 Proteins; 0 / Vimentin; 68238-35-7 / Keratins
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39. Makuria AT, Rushing EJ, McGrail KM, Hartmann DP, Azumi N, Ozdemirli M: Atypical teratoid rhabdoid tumor (AT/RT) in adults: review of four cases. J Neurooncol; 2008 Jul;88(3):321-30
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  • [Title] Atypical teratoid rhabdoid tumor (AT/RT) in adults: review of four cases.
  • Atypical teratoid/rhabdoid (AT/RT) tumor is a rare, highly malignant tumor of the central nervous system (CNS) most commonly found in children less than 5 years of age.
  • In many instances, a reliable diagnosis is not possible without demonstrating the lack of nuclear INI1 protein expression by immunohistochemical methods.
  • In all cases, diagnosis during intraoperative consultation and preliminary diagnosis was different from the final diagnosis after immunohistochemical analysis.
  • Immunohistochemical staining showed that the tumor cells were positive for vimentin and reacted variably for keratin, epithelial membrane antigen (EMA), synaptophysin, neurofilament protein, CD34, and smooth muscle actin (SMA).
  • One patient is alive with no evidence of disease 17 years after the diagnosis.
  • In adult examples of AT/RT, the diagnosis requires a high index of suspicion, with early tissue diagnosis and a low threshold for investigation with INI1 immunohistochemistry to differentiate this entity from other morphologically similar tumors.
  • [MeSH-major] Brain Neoplasms / metabolism. Brain Neoplasms / pathology. Rhabdoid Tumor / metabolism. Rhabdoid Tumor / pathology
  • [MeSH-minor] Adult. Chromosomal Proteins, Non-Histone / metabolism. DNA-Binding Proteins / metabolism. Diagnosis, Differential. Female. Humans. Immunohistochemistry. Male. SMARCB1 Protein. Transcription Factors / metabolism

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  • (PMID = 18369529.001).
  • [ISSN] 0167-594X
  • [Journal-full-title] Journal of neuro-oncology
  • [ISO-abbreviation] J. Neurooncol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / SMARCB1 Protein; 0 / SMARCB1 protein, human; 0 / Transcription Factors
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40. Reddy AT: Atypical teratoid/rhabdoid tumors of the central nervous system. J Neurooncol; 2005 Dec;75(3):309-13
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  • [Title] Atypical teratoid/rhabdoid tumors of the central nervous system.
  • Atypical teratoid/rhabdoid tumor (AT/RT) is a highly malignant central nervous system neoplasm that usually affects very young children and is typically deadly despite very aggressive treatment.
  • Considered rare, the tumor was not recognized as a distinct entity until the 80's, due to its similar features with other primitive tumors.
  • AT/RT is the first pediatric brain tumor for which a candidate tumor suppressor gene has been identified.
  • [MeSH-major] Central Nervous System Neoplasms / genetics. Central Nervous System Neoplasms / pathology. Genes, Tumor Suppressor. Rhabdoid Tumor / genetics. Rhabdoid Tumor / pathology. Teratoma / genetics. Teratoma / pathology

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  • [ISSN] 0167-594X
  • [Journal-full-title] Journal of neuro-oncology
  • [ISO-abbreviation] J. Neurooncol.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 19
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41. Arcaro A, Doepfner KT, Boller D, Guerreiro AS, Shalaby T, Jackson SP, Schoenwaelder SM, Delattre O, Grotzer MA, Fischer B: Novel role for insulin as an autocrine growth factor for malignant brain tumour cells. Biochem J; 2007 Aug 15;406(1):57-66
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  • [Title] Novel role for insulin as an autocrine growth factor for malignant brain tumour cells.
  • AT/RTs (atypical teratoid/rhabdoid tumours) of the CNS (central nervous system) are childhood malignancies associated with poor survival rates due to resistance to conventional treatments such as chemotherapy.
  • We characterized a panel of human AT/RT and MRT (malignant rhabdoid tumour) cell lines for expression of RTKs (receptor tyrosine kinases) and their involvement in tumour growth and survival.
  • When compared with normal brain tissue, AT/RT cell lines overexpressed the IR (insulin receptor) and the IGFIR (insulin-like growth factor-I receptor).
  • [MeSH-major] Autocrine Communication. Brain Neoplasms / metabolism. Brain Neoplasms / pathology. Growth Substances / metabolism. Insulin / metabolism
  • [MeSH-minor] Cell Line, Tumor. Cell Proliferation / drug effects. Child, Preschool. Chromosomal Proteins, Non-Histone / metabolism. Culture Media, Serum-Free. DNA-Binding Proteins / metabolism. Down-Regulation / drug effects. Down-Regulation / genetics. Enzyme Activation / drug effects. Female. Humans. Infant. Isoenzymes / metabolism. Male. Phosphatidylinositol 3-Kinases / metabolism. Proto-Oncogene Proteins c-akt / metabolism. RNA, Small Interfering / metabolism. Receptor, IGF Type 1 / metabolism. Receptor, Insulin / genetics. Receptor, Insulin / metabolism. Signal Transduction / drug effects. Transcription Factors / metabolism

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  • (PMID = 17506723.001).
  • [ISSN] 1470-8728
  • [Journal-full-title] The Biochemical journal
  • [ISO-abbreviation] Biochem. J.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Chromosomal Proteins, Non-Histone; 0 / Culture Media, Serum-Free; 0 / DNA-Binding Proteins; 0 / Growth Substances; 0 / Insulin; 0 / Isoenzymes; 0 / RNA, Small Interfering; 0 / SMARCB1 protein, human; 0 / Transcription Factors; EC 2.7.1.- / Phosphatidylinositol 3-Kinases; EC 2.7.10.1 / Receptor, IGF Type 1; EC 2.7.10.1 / Receptor, Insulin; EC 2.7.11.1 / Proto-Oncogene Proteins c-akt
  • [Other-IDs] NLM/ PMC1948991
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42. Momota H, Holland EC: Mouse models of CNS embryonal tumors. Brain Tumor Pathol; 2009;26(2):43-50
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  • Central nervous system (CNS) embryonal tumors are devastating cancers in children, consisting of medulloblastomas, CNS primitive neuroectodermal tumors, and atypical teratoid/rhabdoid tumors.
  • Recent advances of molecular biology have led us to identify molecular and genetic causality of brain tumors.
  • These mouse models are valuable tools for understanding brain tumor biology and discovering novel therapeutic targets and drugs.

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  • (PMID = 19856214.001).
  • [ISSN] 1861-387X
  • [Journal-full-title] Brain tumor pathology
  • [ISO-abbreviation] Brain Tumor Pathol
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / U01 CA141502
  • [Publication-type] Journal Article; Review
  • [Publication-country] Japan
  • [Number-of-references] 109
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43. Cheng YC, Lirng JF, Chang FC, Guo WY, Teng MM, Chang CY, Wong TT, Ho DM: Neuroradiological findings in atypical teratoid/rhabdoid tumor of the central nervous system. Acta Radiol; 2005 Feb;46(1):89-96
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  • [Title] Neuroradiological findings in atypical teratoid/rhabdoid tumor of the central nervous system.
  • PURPOSE: To evaluate the computed tomography (CT) and magnetic resonance imaging (MRI) findings of atypical teratoid tumor/rhabdoid tumor (AT/RT) of the central nervous system (CNS).
  • MATERIAL AND METHODS: Twenty cases of CNS AT/RT have been found over the past 23 years in our hospital; these involving 11 boys and 9 girls whose mean age at diagnosis was 5.5 years.
  • 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.
  • [MeSH-major] Central Nervous System Neoplasms / pathology. Central Nervous System Neoplasms / radiography. Rhabdoid Tumor / pathology. Rhabdoid Tumor / radiography. Teratoma / pathology. Teratoma / radiography
  • [MeSH-minor] Adolescent. Adult. Child. Child, Preschool. Diagnosis, Differential. Female. Humans. Infant. Magnetic Resonance Imaging. Male. Prognosis. Retrospective Studies. Survival Rate. Tomography, X-Ray Computed

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  • (PMID = 15841745.001).
  • [ISSN] 0284-1851
  • [Journal-full-title] Acta radiologica (Stockholm, Sweden : 1987)
  • [ISO-abbreviation] Acta Radiol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Sweden
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44. Haberler C, Laggner U, Slavc I, Czech T, Ambros IM, Ambros PF, Budka H, Hainfellner JA: 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. Am J Surg Pathol; 2006 Nov;30(11):1462-8
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  • [Title] 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.
  • 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, we examined a large series of malignant pediatric CNS tumors to determine the immunohistochemical expression of INI1 protein in different malignant pediatric tumor entities.
  • 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.
  • Furthermore, a certain number of embryonal tumors without rhabdoid features but lack of INI1 protein and aggressive biologic behavior can be detected.
  • [MeSH-major] Biomarkers, Tumor / analysis. Brain Neoplasms / metabolism. Chromosomal Proteins, Non-Histone / metabolism. DNA-Binding Proteins / metabolism. Neuroectodermal Tumors, Primitive / metabolism. Rhabdoid Tumor / metabolism. Teratoma / metabolism. Transcription Factors / metabolism

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  • (PMID = 17063089.001).
  • [ISSN] 0147-5185
  • [Journal-full-title] The American journal of surgical pathology
  • [ISO-abbreviation] Am. J. Surg. Pathol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Biomarkers, Tumor; 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / SMARCB1 protein, human; 0 / Transcription Factors
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45. Janson K, Nedzi LA, David O, Schorin M, Walsh JW, Bhattacharjee M, Pridjian G, Tan L, Judkins AR, Biegel JA: Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation. Pediatr Blood Cancer; 2006 Sep;47(3):279-84
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  • [Title] Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation.
  • BACKGROUND: Germline mutations of the INI1 gene predispose children to the development of rhabdoid tumors.
  • PROCEDURE: We have identified a three-generation family in which two half-brothers were diagnosed with central nervous system atypical teratoid/rhabdoid tumors (AT/RT).
  • A maternal uncle died in childhood from a brain tumor and a malignant rhabdoid tumor of the kidney, and presumably carried the same germline mutation.
  • CONCLUSION: 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.
  • [MeSH-major] Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Chromosomal Proteins, Non-Histone / genetics. DNA-Binding Proteins / genetics. Genetic Predisposition to Disease. Rhabdoid Tumor / genetics. Teratoma / genetics. Transcription Factors / genetics

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  • [CommentIn] Pediatr Blood Cancer. 2006 Sep;47(3):343-4 [16609948.001]
  • [CommentIn] Pediatr Blood Cancer. 2006 Sep;47(3):235-7 [16304667.001]
  • (PMID = 16261613.001).
  • [ISSN] 1545-5009
  • [Journal-full-title] Pediatric blood & cancer
  • [ISO-abbreviation] Pediatr Blood Cancer
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / CA46274; United States / NCI NIH HHS / CA / CA98543
  • [Publication-type] Case Reports; Comparative Study; Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / SMARCB1 protein, human; 0 / Transcription Factors
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46. Kao CL, Huang PI, Tsai PH, Tsai ML, Lo JF, Lee YY, Chen YJ, Chen YW, Chiou SH: Resveratrol-induced apoptosis and increased radiosensitivity in CD133-positive cells derived from atypical teratoid/rhabdoid tumor. Int J Radiat Oncol Biol Phys; 2009 May 1;74(1):219-28
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Resveratrol-induced apoptosis and increased radiosensitivity in CD133-positive cells derived from atypical teratoid/rhabdoid tumor.
  • PURPOSE: CD133 has recently been proposed as a marker for cancer stem-like cells (CSC) in brain tumors.
  • The aim of the present study was to investigate the possible role of resveratrol (RV) in radiosensitivity of CD133-positive/-negative cells derived from atypical teratoid/rhabdoid tumors (AT/RT-CD133(+/-)).
  • After treatment with 200 microM RV, the in vitro proliferation rates and in vivo tumor restoration abilities of ATRT-CD133(+) were dramatically inhibited.
  • [MeSH-major] Apoptosis / drug effects. Radiation Tolerance / drug effects. Radiation-Sensitizing Agents / therapeutic use. Rhabdoid Tumor / radiotherapy. Stilbenes / therapeutic use. Teratoma / radiotherapy
  • [MeSH-minor] Animals. Antigens, CD / analysis. Antigens, Neoplasm / analysis. Biomarkers, Tumor / analysis. Cell Proliferation. Glycoproteins / analysis. Humans. Mice. Mice, Inbred BALB C. Mice, SCID. Peptides / analysis

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  • (PMID = 19362240.001).
  • [ISSN] 1879-355X
  • [Journal-full-title] International journal of radiation oncology, biology, physics
  • [ISO-abbreviation] Int. J. Radiat. Oncol. Biol. Phys.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / AC133 antigen; 0 / Antigens, CD; 0 / Antigens, Neoplasm; 0 / Biomarkers, Tumor; 0 / Glycoproteins; 0 / Peptides; 0 / Radiation-Sensitizing Agents; 0 / Stilbenes; Q369O8926L / resveratrol
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47. Fidani P, De Ioris MA, Serra A, De Sio L, Ilari I, Cozza R, Boldrini R, Milano GM, Garrè ML, Donfrancesco A: A multimodal strategy based on surgery, radiotherapy, ICE regimen and high dose chemotherapy in atypical teratoid/rhabdoid tumours: a single institution experience. J Neurooncol; 2009 Apr;92(2):177-83
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  • [Title] A multimodal strategy based on surgery, radiotherapy, ICE regimen and high dose chemotherapy in atypical teratoid/rhabdoid tumours: a single institution experience.
  • PURPOSE: Atypical Teratoid/Rhabdoid Tumour is a rare and aggressive childhood tumour.
  • [MeSH-major] Brain Neoplasms / therapy. Rhabdoid Tumor / therapy. Teratoma / therapy

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  • (PMID = 19048188.001).
  • [ISSN] 1573-7373
  • [Journal-full-title] Journal of neuro-oncology
  • [ISO-abbreviation] J. Neurooncol.
  • [Language] eng
  • [Publication-type] Clinical Trial; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 6PLQ3CP4P3 / Etoposide; 8N3DW7272P / Cyclophosphamide; 905Z5W3GKH / Thiotepa; BG3F62OND5 / Carboplatin; UM20QQM95Y / Ifosfamide
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48. Ortiz J, Otero A, Bengoechea O, Gonçalves J, Sousa P, Figols J, Bullón A: Divergent ependymal tumor (ependymoblastoma/anaplastic ependymoma) of the posterior fossa: an uncommon case observed in a child. J Child Neurol; 2008 Sep;23(9):1058-61
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  • [Title] Divergent ependymal tumor (ependymoblastoma/anaplastic ependymoma) of the posterior fossa: an uncommon case observed in a child.
  • We report a divergent ependymal tumor of the posterior fossa (ependymoblastoma/anaplastic ependymoma) observed in an 8-year-old boy.
  • The tumor showed the histological pattern typical of an ependymoblastoma (tubular-papillary fetaloid architecture with stratification of the tumor cells) next to areas in which findings typical of an anaplastic ependymoma were detected.
  • The immunohistochemical study confirmed our diagnostic suspicion, allowing us to establish a differential diagnosis with other entities such as medulloblastoma, medulloepithelioma, atypical rhabdoid/teratoid tumor, or metastases.
  • [MeSH-minor] Age Factors. Age of Onset. Biomarkers, Tumor / analysis. Biomarkers, Tumor / metabolism. Brain Stem / pathology. Brain Stem / physiopathology. Cerebellum / pathology. Cerebellum / physiopathology. Child. Diagnosis, Differential. Female. Headache / etiology. Humans. Magnetic Resonance Imaging. Medulloblastoma / diagnosis. Neurosurgical Procedures. Treatment Outcome. Vomiting / etiology

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  • (PMID = 18827270.001).
  • [ISSN] 1708-8283
  • [Journal-full-title] Journal of child neurology
  • [ISO-abbreviation] J. Child Neurol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Biomarkers, Tumor
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49. Squire SE, Chan MD, Marcus KJ: Atypical teratoid/rhabdoid tumor: the controversy behind radiation therapy. J Neurooncol; 2007 Jan;81(1):97-111
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  • [Title] Atypical teratoid/rhabdoid tumor: the controversy behind radiation therapy.
  • To date, approximately 200 cases of atypical teratoid/rhabdoid tumor (AT/RT) of the central nervous system have been described in the literature.
  • This CNS tumor tends to present at an age of less than 3 years, and most patients succumb to their disease within 1 year of diagnosis.
  • Prior to the rise in utilization of immunohistochemical (IHC) testing in the late 1990s, this tumor was likely mistaken as medulloblastoma and treated as such.
  • A standardized and effective approach to treating this usually fatal tumor remains elusive, and the role of radiation therapy presents a particular dilemma as young patients with this disease may experience devastating late effects of therapy if they achieve a long-term survival.
  • [MeSH-major] Central Nervous System Neoplasms / radiotherapy. Radiotherapy / methods. Rhabdoid Tumor / radiotherapy. Teratoma / radiotherapy

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  • (PMID = 16855864.001).
  • [ISSN] 0167-594X
  • [Journal-full-title] Journal of neuro-oncology
  • [ISO-abbreviation] J. Neurooncol.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antineoplastic Agents
  • [Number-of-references] 92
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50. Judkins AR, Ellison DW: Ependymoblastoma: dear, damned, distracting diagnosis, farewell!*. Brain Pathol; 2010 Jan;20(1):133-9
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  • [Title] Ependymoblastoma: dear, damned, distracting diagnosis, farewell!*.
  • Three other cases showed rare ependymoblastic rosettes in the histopathological setting of a typical primitive neuroectodermal tumor (PNET), medulloblastoma (MB) or atypical teratoid/rhabdoid tumor (AT/RT).
  • We believe that ependymoblastoma as a diagnosis is neither precise nor specific and that it is time once and for all to retire this diagnosis from the lexicon of neuropathology.
  • [MeSH-major] Central Nervous System Neoplasms / diagnosis. Central Nervous System Neoplasms / pathology. Neuroectodermal Tumors, Primitive / diagnosis. Neuroectodermal Tumors, Primitive / pathology
  • [MeSH-minor] Cell Differentiation / physiology. Child. Child, Preschool. Female. Ganglia / cytology. Humans. Immunohistochemistry. Infant. Male. Medulloblastoma / pathology. Neoplasms, Germ Cell and Embryonal / pathology. Neurons / physiology. Neuropil / pathology. Rhabdoid Tumor / pathology. Rosette Formation. Sex Factors. Teratoma / pathology. Terminology as Topic

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  • (PMID = 19120373.001).
  • [ISSN] 1750-3639
  • [Journal-full-title] Brain pathology (Zurich, Switzerland)
  • [ISO-abbreviation] Brain Pathol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Switzerland
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51. Choi YL, Kim CJ, Matsuo T, Gaetano C, Falconi R, Suh YL, Kim SH, Shin YK, Park SH, Chi JG, Thiele CJ: HUlip, a human homologue of unc-33-like phosphoprotein of Caenorhabditis elegans; Immunohistochemical localization in the developing human brain and patterns of expression in nervous system tumors. J Neurooncol; 2005 May;73(1):19-27
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  • [Title] HUlip, a human homologue of unc-33-like phosphoprotein of Caenorhabditis elegans; Immunohistochemical localization in the developing human brain and patterns of expression in nervous system tumors.
  • HUlip is highly expressed only in the fetal brain and spinal cord, and is undetected in the adult brain.
  • The purpose of this study was to investigate the pattern of hUlip expression in the developing human brain and nervous system tumors.
  • Ten human brains at different developmental stages and 118 cases of nervous system tumor tissues were examined by immunohistochemistry.
  • Twelve related tumor cell lines were also analyzed by northern blotting and immunoblotting.
  • HUlip was expressed in late fetal and early postnatal brains; strongly in the neurons of the brain stem, basal ganglia/thalamus, and dentate gyrus of the hippocampus, and relatively weakly in the cerebral and cerebellar cortex.
  • Among tumors, hUlip expression was easily detected in tumor cells undergoing neuronal differentiation such as ganglioneuroblastomas and ganglioneuromas.
  • Furthermore, hUlip immunoreactivity was also found in various brain tumors showing neuronal differentiation: central neurocytomas (6 of 6 cases were positive), medulloblastomas (5/11), atypical teratoid rhabdoid tumor (1/1) and gangliogliomas (4/7).
  • [MeSH-major] Brain / metabolism. Brain Neoplasms / metabolism. Gene Expression Regulation, Developmental / physiology. Gene Expression Regulation, Neoplastic / physiology. Muscle Proteins / metabolism
  • [MeSH-minor] Astrocytes / cytology. Astrocytes / metabolism. Cell Differentiation / genetics. Cell Differentiation / physiology. Cell Line, Tumor. Female. Gestational Age. Humans. Immunohistochemistry. Male. Neuroblastoma / genetics. Neuroblastoma / metabolism. Neurons / cytology. Neurons / metabolism

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  • (PMID = 15933812.001).
  • [ISSN] 0167-594X
  • [Journal-full-title] Journal of neuro-oncology
  • [ISO-abbreviation] J. Neurooncol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / DPYSL3 protein, human; 0 / Muscle Proteins
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52. Dunham C: Pediatric brain tumors: a histologic and genetic update on commonly encountered entities. Semin Diagn Pathol; 2010 Aug;27(3):147-59
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  • [Title] Pediatric brain tumors: a histologic and genetic update on commonly encountered entities.
  • As our understanding of pediatric brain neoplasia flourishes, so does the development of diagnostic, prognostic, and predictive biomarkers.
  • This review serves to highlight the key microscopic and genetic features of the most common pediatric brain tumors.
  • For example, INI-1 immunohistochemistry has assisted in identifying several previously unrecognized cases of rhabdoid cell-poor atypical teratoid rhabdoid tumor (ATRT).
  • Through these and other advances, our understanding of pediatric brain tumors will continue to expand exponentially, and as such will set the stage for truly effectual future treatments.
  • [MeSH-major] Astrocytoma / pathology. Brain Neoplasms / pathology. Ependymoma / pathology. Neuroectodermal Tumors, Primitive / pathology. Rhabdoid Tumor / pathology. Teratoma / pathology


53. Addo-Yobo SO, Straessle J, Anwar A, Donson AM, Kleinschmidt-Demasters BK, Foreman NK: Paired overexpression of ErbB3 and Sox10 in pilocytic astrocytoma. J Neuropathol Exp Neurol; 2006 Aug;65(8):769-75
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  • To identify alternative targets of gefitinib in PA, we studied other members of the ErbB receptor tyrosine kinase family that have been identified in brain tumors.
  • Using gene expression microarray and Western blot analyses, we found that ErbB3 is highly overexpressed in PA compared with other pediatric brain tumors (glioblastoma, ependymoma, medulloblastoma, atypical teratoid/rhabdoid tumor, and choroid plexus papilloma).
  • Investigation of Sox10 in PA revealed that it is highly overexpressed relative to other pediatric brain tumors, lending support to the theory that Sox10-regulated overexpression of ErbB3 may be driving growth in PA.
  • [MeSH-major] Astrocytoma / genetics. Biomarkers, Tumor / genetics. Brain Neoplasms / genetics. DNA-Binding Proteins / genetics. Gene Expression Regulation, Neoplastic / genetics. High Mobility Group Proteins / genetics. Receptor, ErbB-3 / genetics. Transcription Factors / genetics


54. Kleinschmidt-DeMasters BK, Lovell MA, Donson AM, Wilkinson CC, Madden JR, Addo-Yobo SO, Lillehei KO, Foreman NK: Molecular array analyses of 51 pediatric tumors shows overlap between malignant intracranial ectomesenchymoma and MPNST but not medulloblastoma or atypical teratoid rhabdoid tumor. Acta Neuropathol; 2007 Jun;113(6):695-703
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  • [Title] Molecular array analyses of 51 pediatric tumors shows overlap between malignant intracranial ectomesenchymoma and MPNST but not medulloblastoma or atypical teratoid rhabdoid tumor.
  • Gene microarray has been used to identify prognostic markers and genes of interest for therapeutic targets; a less common use is to show possible histogenetic relationships between rare tumor types and more common neoplasms.
  • Intracranial malignant ectomesenchymoma (MEM) is a pediatric tumor postulated to arise from neural crest cells that contain divergent neuroectodermal and mesenchymal tissues, principally mature ganglion cells and rhabdomyosarcoma (RMS).
  • We investigated a case of MEM by molecular, cytogenetic, and gene array analyses and compared results with our previously unpublished series of 51 pediatric tumors including conventional RMS, Ewing sarcoma (EWS), medulloblastoma (MED), atypical teratoid rhabdoid tumor (ATRT), and malignant peripheral nerve sheath tumor (MPNST); the latter is a sarcoma also with potential for divergent differentiation.
  • Standard cytogenetic analyses and RT-PCR testing for the classic gene rearrangements seen in RMS [t(2;13)-PAX3/FKHR] and EWS ([t(11;22) & t(21;22)-EWS/FLI-1 & EWS/ERG), were used for characterization of the MEM, with gene expression microarray analyses on all tumor types.
  • [MeSH-major] Brain Neoplasms / genetics. Brain Neoplasms / pathology. Medulloblastoma / genetics. Medulloblastoma / pathology. Mesenchymoma / genetics. Mesenchymoma / pathology. Nerve Sheath Neoplasms / genetics. Nerve Sheath Neoplasms / pathology. Rhabdoid Tumor / genetics. Rhabdoid Tumor / pathology. Teratoma / genetics. Teratoma / pathology


55. Cecen E, Gunes D, Uysal KM, Yuceer N, Ozer E: Atypical teratoid/rhabdoid tumor in an infant conceived by in vitro fertilization. Childs Nerv Syst; 2010 Feb;26(2):263-6
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  • [Title] Atypical teratoid/rhabdoid tumor in an infant conceived by in vitro fertilization.
  • BACKGROUND: Atypical teratoid/rhabdoid tumor (ATsRT) is a rare tumor and extremely aggressive embryonal neoplasm of the central nervous system.
  • Brain tumors in infant are suggestive of some oncogenic prenatal factors.
  • [MeSH-major] Brain Neoplasms / pathology. Diseases in Twins / pathology. Fertilization in Vitro. Rhabdoid Tumor / pathology. Teratoma / pathology
  • [MeSH-minor] Brain / pathology. Brain / surgery. Fatal Outcome. Female. Humans. Infant. Magnetic Resonance Imaging. Twins

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  • (PMID = 19937253.001).
  • [ISSN] 1433-0350
  • [Journal-full-title] Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
  • [ISO-abbreviation] Childs Nerv Syst
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Germany
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56. Wang CH, Hsu TR, Wong TT, Chang KP: Efficacy of temozolomide for recurrent embryonal brain tumors in children. Childs Nerv Syst; 2009 May;25(5):535-41
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  • [Title] Efficacy of temozolomide for recurrent embryonal brain tumors in children.
  • OBJECTIVE: The salvage therapy of recurrent embryonal brain tumors in children is disappointing.
  • This study analyzed the efficacy of temozolomide on the treatment of recurrent embryonal brain tumors in children.
  • MATERIALS AND METHODS: There were eight patients, including four with medulloblastoma (MB), three with atypical teratoid/rhabdoid tumor (AT/RT) and one with supratentorial primitive neuroectodermal tumor, whose tumors recurred after surgery and radiotherapy, with or without conventional intravenous cisplatin-based chemotherapy.
  • The follow-up MRI showed no tumor progression in five patients at 6 months and four patients at 12 months.
  • CONCLUSION: In this preliminary study, oral temozolomide shows promising results on recurrent embryonal brain tumors in children.
  • However, a further well-designed, controlled study and more long-term follow-up are needed to assess the exact role of temozolomide in children with embryonal tumors in brain.
  • [MeSH-major] Antineoplastic Agents, Alkylating / therapeutic use. Brain Neoplasms / drug therapy. Dacarbazine / analogs & derivatives. Medulloblastoma / drug therapy. Neuroectodermal Tumors, Primitive / drug therapy. Rhabdoid Tumor / drug therapy. Teratoma / drug therapy

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  • (PMID = 19107490.001).
  • [ISSN] 1433-0350
  • [Journal-full-title] Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
  • [ISO-abbreviation] Childs Nerv Syst
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Antineoplastic Agents, Alkylating; 7GR28W0FJI / Dacarbazine; YF1K15M17Y / temozolomide
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57. Shalaby T, von Bueren AO, Hürlimann ML, Fiaschetti G, Castelletti D, Masayuki T, Nagasawa K, Arcaro A, Jelesarov I, Shin-ya K, Grotzer M: Disabling c-Myc in childhood medulloblastoma and atypical teratoid/rhabdoid tumor cells by the potent G-quadruplex interactive agent S2T1-6OTD. Mol Cancer Ther; 2010 Jan;9(1):167-79
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  • [Title] Disabling c-Myc in childhood medulloblastoma and atypical teratoid/rhabdoid tumor cells by the potent G-quadruplex interactive agent S2T1-6OTD.
  • We investigated here the effects of S2T1-6OTD, a novel telomestatin derivative that is synthesized to target G-quadruplex-forming DNA sequences, on a representative panel of human medulloblastoma (MB) and atypical teratoid/rhabdoid (AT/RT) childhood brain cancer cell lines.
  • In remarkable contrast to control cells, short-term (72-hour) treatment with S2T1-6OTD resulted in a dose- and time-dependent antiproliferative effect in all MB and AT/RT brain tumor cell lines tested (IC(50), 0.25-0.39 micromol/L).
  • On in vivo animal testing, S2T1-6OTD may well represent a novel therapeutic strategy for childhood brain tumors.
  • [MeSH-major] G-Quadruplexes / drug effects. Medulloblastoma / metabolism. Medulloblastoma / pathology. Oxazoles / pharmacology. Proto-Oncogene Proteins c-myc / metabolism. Rhabdoid Tumor / pathology. Teratoma / pathology
  • [MeSH-minor] Apoptosis / drug effects. Base Sequence. Cell Cycle / drug effects. Cell Line, Tumor. Cell Proliferation / drug effects. Cell Survival / drug effects. Cyclin-Dependent Kinase 2 / metabolism. Dose-Response Relationship, Drug. Down-Regulation / drug effects. Drug Screening Assays, Antitumor. Humans. Promoter Regions, Genetic / genetics. Protein Binding / drug effects. RNA, Messenger / genetics. RNA, Messenger / metabolism. Telomerase / genetics. Telomerase / metabolism. Time Factors


58. Seno T, Kawaguchi T, Yamahara T, Sakurai Y, Oishi T, Inagaki T, Yamanouchi Y, Asai A, Kawamoto K: An immunohistochemical and electron microscopic study of atypical teratoid/rhabdoid tumor. Brain Tumor Pathol; 2008;25(2):79-83
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  • [Title] An immunohistochemical and electron microscopic study of atypical teratoid/rhabdoid tumor.
  • We report two infant cases with atypical teratoid/rhabdoid tumor (AT/RT) located in the cerebellar vermis and spinal cord.
  • Postcontrast MRI demonstrated clear margin of tumor and heterogeneous strong enhancement.
  • It was difficult to differentiate the tumor from medulloblastoma by hematoxylin and eosin staining.
  • However, immunohistochemical staining showed that these tumor cells react positively for cytokeratin, smooth muscle actin (SMA), and epithelial membrane antigen (EMA) and helped us with the differentiation.
  • Electron microscopic study has confirmed the presence of mesenchymal components, such as filaments and desmosome junctions in the rhabdoid cells, but no neuronal components.
  • [MeSH-major] Cerebellar Neoplasms / pathology. Rhabdoid Tumor / pathology. Spinal Cord Neoplasms / pathology. Teratoma / pathology

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  • (PMID = 18987833.001).
  • [ISSN] 1433-7398
  • [Journal-full-title] Brain tumor pathology
  • [ISO-abbreviation] Brain Tumor Pathol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Japan
  • [Chemical-registry-number] 0 / Coloring Agents; 0 / Fluorescent Dyes; 0 / Neoplasm Proteins; 0 / Nerve Tissue Proteins; TDQ283MPCW / Eosine Yellowish-(YS); YKM8PY2Z55 / Hematoxylin
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59. Zarovnaya EL, Pallatroni HF, Hug EB, Ball PA, Cromwell LD, Pipas JM, Fadul CE, Meyer LP, Park JP, Biegel JA, Perry A, Rhodes CH: Atypical teratoid/rhabdoid tumor of the spine in an adult: case report and review of the literature. J Neurooncol; 2007 Aug;84(1):49-55
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  • [Title] Atypical teratoid/rhabdoid tumor of the spine in an adult: case report and review of the literature.
  • Atypical teratoid/rhabdoid tumors (AT/RTs) are rare, malignant brain tumors which occur almost exclusively in infants and young children.
  • There have been only 17 cases of AT/RT in adults reported in the medical literature and the rarity of this tumor makes the diagnosis in adults difficult.
  • In consultation with senior pathologists at other institutions, the lesion was initially diagnosed as a rhabdoid meningioma.
  • Subsequently, immunohistochemical studies revealed the absence of INI1 gene expression in the malignant cells, supporting the diagnosis of AT/RT.
  • The patient underwent three additional surgical procedures for recurrent disease throughout the neuraxis secondary to leptomeningeal spread of the tumor.
  • To our knowledge, this is the first case of a spinal atypical teratoid/rhabdoid tumor in an adult fully documented with molecular, immunohistochemical, cytogenetic and autopsy findings.
  • [MeSH-major] Chromosomal Proteins, Non-Histone / genetics. Chromosomes, Human, Pair 22 / genetics. DNA-Binding Proteins / genetics. Neoplasm Recurrence, Local / pathology. Rhabdoid Tumor / pathology. Spinal Cord Neoplasms / pathology. Teratoma / pathology. Transcription Factors / genetics
  • [MeSH-minor] Adult. Cervical Vertebrae. Diagnosis, Differential. Fatal Outcome. Female. Humans. Immunohistochemistry. Monosomy / diagnosis. Monosomy / genetics. SMARCB1 Protein

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  • (PMID = 17377740.001).
  • [ISSN] 0167-594X
  • [Journal-full-title] Journal of neuro-oncology
  • [ISO-abbreviation] J. Neurooncol.
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / CA46274
  • [Publication-type] Case Reports; Journal Article; Research Support, N.I.H., Extramural; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / SMARCB1 Protein; 0 / SMARCB1 protein, human; 0 / Transcription Factors
  • [Number-of-references] 34
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60. Heuer GG, Kiefer H, Judkins AR, Belasco J, Biegel JA, Jackson EM, Cohen M, O'Malley BW Jr, Storm PB: Surgical treatment of a clival-C2 atypical teratoid/rhabdoid tumor. J Neurosurg Pediatr; 2010 Jan;5(1):75-9
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  • [Title] Surgical treatment of a clival-C2 atypical teratoid/rhabdoid tumor.
  • The authors present the case of en bloc resection of a clival-C2 atypical teratoid/rhabdoid tumor.
  • A transoral biopsy procedure revealed an atypical teratoid/rhabdoid tumor on histological examination.
  • The tumor was resected via a transoral approach, and the patient's spine was stabilized with posterior instrumented fusion from the occiput to C-5.
  • The conus tumor was resected and found to be consistent with the primary tumor.

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  • (PMID = 20043739.001).
  • [ISSN] 1933-0715
  • [Journal-full-title] Journal of neurosurgery. Pediatrics
  • [ISO-abbreviation] J Neurosurg Pediatr
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / CA046274-18; United States / NCI NIH HHS / CA / R01 CA046274; United States / NCI NIH HHS / CA / R01 CA046274-18
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Other-IDs] NLM/ NIHMS184119; NLM/ PMC2840717
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61. Donovan DJ, Smith AB, Petermann GW: Atypical teratoid/rhabdoid tumor of the velum interpositum presenting as a spontaneous intraventricular hemorrhage in an infant: case report with long-term survival. Pediatr Neurosurg; 2006;42(3):187-92
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  • [Title] Atypical teratoid/rhabdoid tumor of the velum interpositum presenting as a spontaneous intraventricular hemorrhage in an infant: case report with long-term survival.
  • Atypical teratoid/rhabdoid tumors (ATRT) of infancy are highly malignant neoplasms that are most common in the first 2 years of life.
  • Serial imaging studies and two ventriculoscopic biopsies were required to establish the diagnosis of the tumor in this unique location and in the midst of an evolving hematoma.
  • At 4-year follow-up, the child is neurologically intact, meeting normal developmental milestones, and imaging studies show no evidence of tumor.
  • Spontaneous brain hemorrhage in a full-term infant requires a diligent and persistent search to rule out an underlying neoplasm.
  • [MeSH-major] Brain Neoplasms / surgery. Cerebral Hemorrhage / etiology. Cerebral Ventricle Neoplasms / surgery. Rhabdoid Tumor / surgery. Survivors. Teratoma / surgery
  • [MeSH-minor] Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Biopsy. Chemotherapy, Adjuvant. Craniotomy. Diagnosis, Differential. Epilepsy, Generalized / diagnosis. Epilepsy, Generalized / etiology. Epilepsy, Generalized / surgery. Epilepsy, Tonic-Clonic / diagnosis. Epilepsy, Tonic-Clonic / etiology. Epilepsy, Tonic-Clonic / surgery. Female. Humans. Hydrocephalus / diagnosis. Hydrocephalus / surgery. Infant. Lateral Ventricles / pathology. Lateral Ventricles / surgery. Magnetic Resonance Imaging. Microscopy, Electron. Reoperation. Third Ventricle / pathology. Third Ventricle / surgery. Tomography, X-Ray Computed. Ventriculoperitoneal Shunt. Ventriculostomy

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  • [Copyright] Copyright 2006 S. Karger AG, Basel
  • (PMID = 16636624.001).
  • [ISSN] 1016-2291
  • [Journal-full-title] Pediatric neurosurgery
  • [ISO-abbreviation] Pediatr Neurosurg
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Switzerland
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62. Tez S, Köktener A, Güler G, Ozişik P: Atypical teratoid/rhabdoid tumors: imaging findings of two cases and review of the literature. Turk Neurosurg; 2008 Jan;18(1):30-4
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  • [Title] Atypical teratoid/rhabdoid tumors: imaging findings of two cases and review of the literature.
  • Atypical teratoid/rhabdoid tumor (AT/RT) is a malignant embryonal central nervous system (CNS) tumor, manifesting in children, and composed of rhabdoid cells, with or without fields resembling a classical primitive neuroectodermal tumor (PNET), epithelial tissue and neoplastic mesenchyme.
  • Although the clinical and pathological findings have been defined in large series previously, and AT/RT has become increasingly recognized, awareness of typical AT/RT is important in making the correct diagnosis of this uncommon but probably underdiagnosed entity.
  • Neuroradiologists rarely mention AT/RT in their differential diagnosis and this paper presents two additional cases in which clinical and pathological findings are combined with neuroradiological presentation.
  • [MeSH-major] Brain Neoplasms / pathology. Magnetic Resonance Imaging. Rhabdoid Tumor / pathology. Teratoma / pathology
  • [MeSH-minor] Child. Diagnosis, Differential. Fatal Outcome. Female. Humans. Infant. Male. Tomography, X-Ray Computed


63. Feiden S, Sartorius E, Feiden W: [The role of diagnostic neuropathology in familial tumour syndromes]. Pathologe; 2010 Oct;31(6):464-70
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  • For the surgical neuropathologist the possibility in individual patients of a familial tumour syndrome needs to be considered in the case of special tumours such as malignant peripheral nerve sheath tumour (MPNST), medulloblastoma with extensive nodularity (MBEN) or even atypical teratoid/rhabdoid tumour (AT/RT) of the brain.
  • [MeSH-minor] Central Nervous System Neoplasms / genetics. Central Nervous System Neoplasms / pathology. Chromosome Mapping. Chromosomes, Human, Pair 16. Chromosomes, Human, Pair 17. Chromosomes, Human, Pair 22. Chromosomes, Human, Pair 9. Genes, Neurofibromatosis 1. Genes, Neurofibromatosis 2. Humans. Li-Fraumeni Syndrome / genetics. Li-Fraumeni Syndrome / pathology. Neurofibromatosis 1 / genetics. Neurofibromatosis 1 / pathology. Neurofibromatosis 2 / genetics. Neurofibromatosis 2 / pathology. Neuroma, Acoustic / genetics. Neuroma, Acoustic / pathology. Peripheral Nervous System Neoplasms / genetics. Peripheral Nervous System Neoplasms / pathology. Rhabdoid Tumor / genetics. Rhabdoid Tumor / pathology. Teratoma / genetics. Teratoma / pathology. Tuberous Sclerosis / genetics. Tuberous Sclerosis / pathology

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  • [Cites] Genet Med. 2010 Jan;12(1):1-11 [20027112.001]
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  • (PMID = 20848106.001).
  • [ISSN] 1432-1963
  • [Journal-full-title] Der Pathologe
  • [ISO-abbreviation] Pathologe
  • [Language] ger
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] Germany
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64. Howes TL, Buatti JM, O'Dorisio MS, Kirby PA, Ryken TC: Atypical teratoid/rhabdoid tumor case report: treatment with surgical excision, radiation therapy, and alternative medicines. J Neurooncol; 2005 Mar;72(1):85-8
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  • [Title] Atypical teratoid/rhabdoid tumor case report: treatment with surgical excision, radiation therapy, and alternative medicines.
  • Intracranial atypical teratoid/rhabdoid tumors (AT/RT) are rare with a poor prognosis.
  • We report one case of a 7-year old girl living over 17 months after the diagnosis of AT/RT in the left frontal lobe.
  • Radiation therapy resulted in complete response with no evidence of residual or recurrent disease more than 17 months after diagnosis.
  • [MeSH-major] Brain Neoplasms / radiotherapy. Rhabdoid Tumor / radiotherapy. Teratoma / radiotherapy


65. Kleinschmidt-DeMasters BK, Alassiri AH, Birks DK, Newell KL, Moore W, Lillehei KO: Epithelioid versus rhabdoid glioblastomas are distinguished by monosomy 22 and immunohistochemical expression of INI-1 but not claudin 6. Am J Surg Pathol; 2010 Mar;34(3):341-54
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  • [Title] Epithelioid versus rhabdoid glioblastomas are distinguished by monosomy 22 and immunohistochemical expression of INI-1 but not claudin 6.
  • Epithelioid and rhabdoid glioblastomas are rare entities that share some overlapping morphologic features, but remain poorly characterized at the immunohistochemical and genetic level.
  • We report 10 examples: 8 epithelioid glioblastomas (E-GBMs) and 2 rhabdoid GBMs (R-GBMs).
  • R-GBMs showed tumor with classic rhabdoid features arising as a subpopulation of an otherwise classic GBM, fitting the definition of composite extrarenal rhabdoid tumors.
  • Polyphenotypic immunohistochemical expression and focal loss of INI-1 protein in the rhabdoid areas of R-GBMs distinguished them from E-GBMs.
  • Immunostaining for claudin-6, a key component of tight junctions that we have earlier shown to be a positive cytoplasmic immunohistochemical marker for atypical teratoid or rhabdoid tumors (AT/RTs), was also conducted.
  • Thus, in the CNS, claudin-6 expression may be a good discriminator of atypical teratoid or rhabdoid tumors from other CNS rhabdoid or epithelioid neoplasms.
  • [MeSH-major] Biomarkers, Tumor / analysis. Brain Neoplasms / diagnosis. Chromosomal Proteins, Non-Histone / analysis. Chromosomes, Human, Pair 22. DNA-Binding Proteins / analysis. Epithelioid Cells / chemistry. Glioblastoma / diagnosis. Membrane Proteins / analysis. Monosomy. Rhabdoid Tumor / diagnosis. Transcription Factors / analysis
  • [MeSH-minor] Adolescent. Adult. Aged. Child. Claudins. Diagnosis, Differential. Female. Gene Expression Regulation, Neoplastic. Humans. Immunohistochemistry. In Situ Hybridization, Fluorescence. Magnetic Resonance Imaging. Male. Predictive Value of Tests. Young Adult

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  • (PMID = 20118769.001).
  • [ISSN] 1532-0979
  • [Journal-full-title] The American journal of surgical pathology
  • [ISO-abbreviation] Am. J. Surg. Pathol.
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Biomarkers, Tumor; 0 / Chromosomal Proteins, Non-Histone; 0 / Claudins; 0 / DNA-Binding Proteins; 0 / Membrane Proteins; 0 / SMARCB1 protein, human; 0 / Transcription Factors; 0 / claudin 6
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66. Raisanen J, Biegel JA, Hatanpaa KJ, Judkins A, White CL, Perry A: Chromosome 22q deletions in atypical teratoid/rhabdoid tumors in adults. Brain Pathol; 2005 Jan;15(1):23-8
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  • [Title] Chromosome 22q deletions in atypical teratoid/rhabdoid tumors in adults.
  • Atypical teratoid/rhabdoid tumors (AT/RTs) are rare, malignant brain tumors that usually occur in the posterior fossa.
  • Both AT/RT and the analogous tumor outside the brain, malignant rhabdoid tumor, share a polyphenotypic immunoprofile and frequent 22q deletions with inactivation of the IN11/hSNF5 gene.
  • The rarity of the tumor and the polyphenotypic immunoprofile, characterized by antigen expression that is often patchy, make diagnosis in adults difficult and controversial.
  • Although rare, AT/RT should be considered in the differential diagnosis of poorly differentiated intracranial tumors in adults.
  • [MeSH-major] Brain Neoplasms / genetics. Chromosome Deletion. Chromosomes, Human, Pair 22 / genetics. Rhabdoid Tumor / genetics. Teratoma / genetics
  • [MeSH-minor] Adult. Base Sequence. Chromosomal Proteins, Non-Histone. DNA-Binding Proteins / biosynthesis. Diagnosis, Differential. Female. Humans. Immunohistochemistry. In Situ Hybridization, Fluorescence. Male. Middle Aged. Transcription Factors

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  • (PMID = 15779233.001).
  • [ISSN] 1015-6305
  • [Journal-full-title] Brain pathology (Zurich, Switzerland)
  • [ISO-abbreviation] Brain Pathol.
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / CA46274
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
  • [Publication-country] Switzerland
  • [Chemical-registry-number] 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / SMARCB1 protein, human; 0 / Transcription Factors
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67. Rosol M, Harutyunyan I, Xu J, Melendez E, Smbatyan G, Finlay JL, Krieger MD, Gonzalez-Gomez I, Reynolds CP, Nelson MD, Erdreich-Epstein A, Blüml S: Metabolism of orthotopic mouse brain tumor models. Mol Imaging; 2009 Jul-Aug;8(4):199-208
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  • [Title] Metabolism of orthotopic mouse brain tumor models.
  • We used magnetic resonance spectroscopy to determine whether orthotopic mouse brain tumors grown as xenografts in immunocompromised mice either from human brain tumor cells implanted immediately after surgery or from cultured human tumor lines show metabolic profiles comparable to those of the original tumors.
  • Using a 7 T scanner, spectra were acquired from mice with a human atypical teratoid/rhabdoid tumor (AT/RT) either implanted directly from the surgical specimen or first grown in culture, directly implanted choroid plexus carcinoma (CPC), and two medulloblastoma cell lines.
  • The results were compared with spectra from these same tumors or tumor types in patients and with controls.
  • [MeSH-major] Brain Neoplasms / metabolism. Brain Neoplasms / pathology. Rhabdoid Tumor / pathology. Teratoma / pathology
  • [MeSH-minor] Animals. Carcinoma / metabolism. Carcinoma / pathology. Cerebellar Neoplasms / metabolism. Cerebellar Neoplasms / pathology. Cerebellar Neoplasms / radiography. Child. Child, Preschool. Choroid Plexus Neoplasms / metabolism. Choroid Plexus Neoplasms / pathology. Choroid Plexus Neoplasms / radiography. Female. Humans. Infant. Magnetic Resonance Spectroscopy / methods. Male. Medulloblastoma / metabolism. Medulloblastoma / pathology. Medulloblastoma / radiography. Mice. Mice, Inbred NOD. Mice, Nude. Mice, SCID. Transplantation, Heterologous. Tumor Cells, Cultured

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  • (PMID = 19728974.001).
  • [ISSN] 1535-3508
  • [Journal-full-title] Molecular imaging
  • [ISO-abbreviation] Mol Imaging
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / CA98568
  • [Publication-type] Evaluation Studies; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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68. Chiou SH, Kao CL, Chen YW, Chien CS, Hung SC, Lo JF, Chen YJ, Ku HH, Hsu MT, Wong TT: Identification of CD133-positive radioresistant cells in atypical teratoid/rhabdoid tumor. PLoS One; 2008;3(5):e2090
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  • [Title] Identification of CD133-positive radioresistant cells in atypical teratoid/rhabdoid tumor.
  • Atypical teratoid/rhabdoid tumor (AT/RT) is an extremely malignant neoplasm in the central nervous system (CNS) which occurs in infancy and childhood.
  • Recent studies suggested that CD133 could be considered a marker for brain cancer stem-like cells (CSCs).
  • [MeSH-major] Antigens, CD / immunology. Glycoproteins / immunology. Peptides / immunology. Radiation Tolerance. Rhabdoid Tumor / diagnosis

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  • (PMID = 18509505.001).
  • [ISSN] 1932-6203
  • [Journal-full-title] PloS one
  • [ISO-abbreviation] PLoS ONE
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / AC133 antigen; 0 / Antigens, CD; 0 / Glycoproteins; 0 / Peptides; 0 / Proto-Oncogene Proteins c-bcl-2; 0 / RNA, Small Interfering
  • [Other-IDs] NLM/ PMC2396792
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69. Ohba S, Yoshida K, Hirose Y, Ikeda E, Nakazato Y, Kawase T: Cerebral tumor with extensive rhabdoid features and a favorable prognosis. J Neurosurg; 2009 Sep;111(3):492-6
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  • [Title] Cerebral tumor with extensive rhabdoid features and a favorable prognosis.
  • Immunohistochemically, the tumor was reactive for vimentin, epithelial membrane antigen, cytokeratin AE1/AE3, smooth muscle actin, and BAF47/INI-1, and negative for glial fibrillary acidic protein, neurofilament protein, S100 protein, CK7, CK20, HMB-45, MIC2, and Bcl-2.
  • This tumor could not be categorized according to the present World Health Organization classification.
  • Results of staining with glial fibrillary acidic protein were not consistent with a glioma, and staining with INI-1 was inconsistent with atypical teratoid/rhabdoid tumor.
  • The tumor was therefore designated as a "cerebral tumor with extensive rhabdoid features. "
  • [MeSH-major] Brain Neoplasms / pathology. Pregnancy Complications, Neoplastic / pathology


70. Birks DK, Kleinschmidt-DeMasters BK, Donson AM, Barton VN, McNatt SA, Foreman NK, Handler MH: Claudin 6 is a positive marker for atypical teratoid/rhabdoid tumors. Brain Pathol; 2010 Jan;20(1):140-50
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  • [Title] Claudin 6 is a positive marker for atypical teratoid/rhabdoid tumors.
  • Atypical teratoid/rhabdoid tumors (AT/RTs) are highly aggressive pediatric brain tumors characterized by the presence of rhabdoid cells and negative immunostaining for INI1 (BAF47).
  • Histogenesis is unknown and diagnosis can be challenging because of their extreme morphological and immunophenotypic heterogeneity.
  • To search for possible candidate proteins of interest in AT/RTs, Affymetrix GeneChip microarrays were utilized to investigate nine AT/RTs vs. 124 other tumor samples.
  • Immunohistochemical (IHC) staining of 33 tumor specimens found positive membrane staining in seven of seven AT/RTs, and was negative in 26 of 27 other brain tumor samples.
  • [MeSH-major] Brain Neoplasms / metabolism. Membrane Proteins / metabolism. Rhabdoid Tumor / metabolism. Teratoma / metabolism
  • [MeSH-minor] Adult. Antibodies, Neoplasm / chemistry. Biomarkers, Tumor. Blotting, Western. Child, Preschool. Claudins. Female. Gene Expression Regulation, Neoplastic. Humans. Immunohistochemistry. Infant. Infratentorial Neoplasms / pathology. Male. Oligonucleotide Array Sequence Analysis. RNA, Messenger / biosynthesis. RNA, Neoplasm / biosynthesis. Reverse Transcriptase Polymerase Chain Reaction. Survival Analysis

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  • (PMID = 19220299.001).
  • [ISSN] 1750-3639
  • [Journal-full-title] Brain pathology (Zurich, Switzerland)
  • [ISO-abbreviation] Brain Pathol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Switzerland
  • [Chemical-registry-number] 0 / Antibodies, Neoplasm; 0 / Biomarkers, Tumor; 0 / Claudins; 0 / Membrane Proteins; 0 / RNA, Messenger; 0 / RNA, Neoplasm; 0 / claudin 6
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71. Sakai K, Shigeta H, Ogiso Y, Hongo K, Kobayashi S, Hirose T: Pediatric embryonal tumor with epithelial immunophenotype showing absence of hSNF5/INI1 expression. Childs Nerv Syst; 2005 Feb;21(2):150-5
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  • [Title] Pediatric embryonal tumor with epithelial immunophenotype showing absence of hSNF5/INI1 expression.
  • CASE REPORT: A case of a histologically unclassified brain tumor in a 32-month-old boy is reported.
  • RESULTS: Histologically, the tumor was composed largely of small-undifferentiated round cells without any patterns of differentiation.
  • Immunohistochemically, the tumor cells were positive for cytokeratin and focally for epithelial membrane antigen (EMA).
  • The origin of the tumor was not detected.
  • Expression of the hSNF5/INI1 of this tumor was not detected by reverse transcription-polymerase chain reaction (RT-PCR).
  • CONCLUSIONS: Based on the immunohistochemical findings, the tumor was descriptively diagnosed as an embryonal tumor with an epithelial immunophenotype.
  • The hSNF5/INI1 gene has recently been reported to act as a tumor suppressor in atypical teratoid/rhabdoid tumors.
  • [MeSH-major] Brain Neoplasms / metabolism. DNA-Binding Proteins / metabolism. Gene Expression Regulation, Neoplastic. Mucin-1 / metabolism

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  • (PMID = 15168054.001).
  • [ISSN] 0256-7040
  • [Journal-full-title] Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
  • [ISO-abbreviation] Childs Nerv Syst
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Biomarkers; 0 / CAM 5.2 antigen; 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / Glial Fibrillary Acidic Protein; 0 / Mucin-1; 0 / RNA, Messenger; 0 / SMARCB1 Protein; 0 / SMARCB1 protein, human; 0 / Transcription Factors; 68238-35-7 / Keratins; K2I13DR72L / Gadolinium DTPA
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72. Jóźwiak J, Bikowska B, Grajkowska W, Sontowska I, Roszkowski M, Galus R: Activation of Akt/mTOR pathway in a patient with atypical teratoid/rhabdoid tumor. Folia Neuropathol; 2010;48(3):185-9
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  • [Title] Activation of Akt/mTOR pathway in a patient with atypical teratoid/rhabdoid tumor.
  • A typical teratoid/rhabdoid tumor (AT/RT) is a highly malignant childhood brain tumor.
  • In the current paper we evaluate a case of AT/RT with special consideration of two pathways often implicated in tumor development: protein kinase B (PKB or Akt) and extracellular signal-regulated kinase (Erk).
  • We found that Erk pathway signaling in the tumor was not upregulated.


73. Strother D: Atypical teratoid rhabdoid tumors of childhood: diagnosis, treatment and challenges. Expert Rev Anticancer Ther; 2005 Oct;5(5):907-15
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  • [Title] Atypical teratoid rhabdoid tumors of childhood: diagnosis, treatment and challenges.
  • 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.
  • Co-operative group clinical trials that focus solely on atypical teratoid rhabdoid tumor are needed that incorporate biologic studies along with evaluations of aggressive treatment approaches.
  • The goal of these trials should be to increase the cure rate for children with atypical teratoid rhabdoid tumor and further increase our understanding not only of atypical teratoid rhabdoid tumor, but also of other pediatric brain tumors.
  • [MeSH-major] Brain Neoplasms / diagnosis. Brain Neoplasms / therapy. Rhabdoid Tumor / diagnosis. Rhabdoid Tumor / therapy. Teratoma / diagnosis. Teratoma / therapy
  • [MeSH-minor] Clinical Trials as Topic. Demography. Diagnosis, Differential. Humans. Immunohistochemistry. Incidence. Infant. Infant, Newborn. Prognosis

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  • (PMID = 16221059.001).
  • [ISSN] 1744-8328
  • [Journal-full-title] Expert review of anticancer therapy
  • [ISO-abbreviation] Expert Rev Anticancer Ther
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] England
  • [Number-of-references] 69
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74. Kao CL, Chiou SH, Ho DM, Chen YJ, Liu RS, Lo CW, Tsai FT, Lin CH, Ku HH, Yu SM, Wong TT: Elevation of plasma and cerebrospinal fluid osteopontin levels in patients with atypical teratoid/rhabdoid tumor. Am J Clin Pathol; 2005 Feb;123(2):297-304
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  • [Title] Elevation of plasma and cerebrospinal fluid osteopontin levels in patients with atypical teratoid/rhabdoid tumor.
  • Osteopontin, a cancer metastasis-associated gene, is specifically up-regulated in central nervous system (CNS) atypical teratoid/rhabdoid tumor (AT/RT), but its biological behavior in the progression of CNS AT/RT has never been studied.
  • We obtained plasma, cerebrospinal fluid (CSF), and brain tissue specimens from lobectomy or hemispherectomy samples from 39 patients (medulloblastoma, 16; AT/RT, 8; epilepsy, 6; hydrocephalus, 9).
  • The differences in osteopontin expression in plasma, CSF, and tumor samples in AT/RT and medulloblastoma correlated with survival differences.
  • [MeSH-major] Brain Neoplasms / metabolism. Rhabdoid Tumor / metabolism. Sialoglycoproteins. Teratoma / metabolism

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  • (PMID = 15842057.001).
  • [ISSN] 0002-9173
  • [Journal-full-title] American journal of clinical pathology
  • [ISO-abbreviation] Am. J. Clin. Pathol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / SPP1 protein, human; 0 / Sialoglycoproteins; 106441-73-0 / Osteopontin
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75. Ferri Niguez B, Martínez-Lage JF, Almagro MJ, Fuster JL, Serrano C, Torroba MA, Sola J: Embryonal tumor with abundant neuropil and true rosettes (ETANTR): a new distinctive variety of pediatric PNET: a case-based update. Childs Nerv Syst; 2010 Aug;26(8):1003-8
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  • [Title] Embryonal tumor with abundant neuropil and true rosettes (ETANTR): a new distinctive variety of pediatric PNET: a case-based update.
  • BACKGROUND: Embryonal central nervous system (CNS) tumors are currently classified into three types: medulloblastoma, atypical rhabdoid/teratoid tumors, and primitive neuroectodermal tumor (PNET).
  • A distinctive subtype of PNET called "embryonal tumor with abundant neuropil and true rosettes" (ETANTR) was reported in 2000.
  • ETANTR is an eminently pediatric tumor that has been reported exclusively in children younger than 4 years.
  • A 23-month-old girl was submitted to surgery for a frontoparietal tumor.
  • In both instances, the histopathological diagnosis confirmed ETANTR.
  • [MeSH-major] Brain Neoplasms / pathology. Neuroectodermal Tumors, Primitive / pathology. Neuropil / pathology

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  • [ISSN] 1433-0350
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76. Zimmerman MA, Goumnerova LC, Proctor M, Scott RM, Marcus K, Pomeroy SL, Turner CD, Chi SN, Chordas C, Kieran MW: Continuous remission of newly diagnosed and relapsed central nervous system atypical teratoid/rhabdoid tumor. J Neurooncol; 2005 Mar;72(1):77-84
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  • [Title] Continuous remission of newly diagnosed and relapsed central nervous system atypical teratoid/rhabdoid tumor.
  • Atypical teratoid/rhabdoid tumors (AT/RT) are highly malignant lesions of childhood that carry a very poor prognosis.
  • [MeSH-major] Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Brain Neoplasms / therapy. Neoplasm Recurrence, Local / therapy. Rhabdoid Tumor / therapy. Teratoma / therapy

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  • (PMID = 15803379.001).
  • [ISSN] 0167-594X
  • [Journal-full-title] Journal of neuro-oncology
  • [ISO-abbreviation] J. Neurooncol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] United States
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77. Warmuth-Metz M, Bison B, Dannemann-Stern E, Kortmann R, Rutkowski S, Pietsch T: CT and MR imaging in atypical teratoid/rhabdoid tumors of the central nervous system. Neuroradiology; 2008 May;50(5):447-52
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  • [Title] CT and MR imaging in atypical teratoid/rhabdoid tumors of the central nervous system.
  • INTRODUCTION: Atypical teratoid/rhabdoid tumors (ATRT) are rare aggressive neoplasms of the CNS affecting predominantly very young children.
  • METHODS: We retrospectively reviewed the imaging findings of 9 CT and 32 MR examinations of the brain and spine of 33 children.
  • Heterogeneity on imaging, large size and high tumor stages are striking features reflecting the aggressive nature of this histopathological entity.
  • [MeSH-major] Brain Neoplasms / diagnosis. Magnetic Resonance Imaging. Rhabdoid Tumor / diagnosis. Spinal Cord Neoplasms / diagnosis. Teratoma / diagnosis. Tomography, X-Ray Computed


78. Chan I, Marshall GB, Abou-Reslan W, Morrish W: Case of the Month #133. Atypical teratoid rhabdoid tumour. Can Assoc Radiol J; 2008 Jun;59(3):144-7
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  • [Title] Case of the Month #133. Atypical teratoid rhabdoid tumour.
  • [MeSH-major] Brain / pathology. Brain Neoplasms / diagnosis. Magnetic Resonance Imaging / methods. Rhabdoid Tumor / diagnosis. Teratoma / diagnosis
  • [MeSH-minor] Contrast Media / administration & dosage. Diagnosis, Differential. Diffusion Magnetic Resonance Imaging / methods. Humans. Image Enhancement / methods. Infant. Lethargy / etiology. Male. Prognosis. Seizures / etiology. Vomiting / etiology

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  • (PMID = 18697721.001).
  • [ISSN] 0846-5371
  • [Journal-full-title] Canadian Association of Radiologists journal = Journal l'Association canadienne des radiologistes
  • [ISO-abbreviation] Can Assoc Radiol J
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Canada
  • [Chemical-registry-number] 0 / Contrast Media
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79. Stabouli S, Sdougka M, Tsitspoulos P, Violaki A, Anagnostopoulos I, Tsonidis Ch, Koliouskas D: Primary atypical teratoid/rhabdoid tumor of the spine in an infant. Hippokratia; 2010 Oct;14(4):286-8
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  • [Title] Primary atypical teratoid/rhabdoid tumor of the spine in an infant.
  • Atypical teratoid/rhabdoid tumor of the spine is a rare pediatric neoplasm with poor prognosis.
  • We report a case of an atypical teratoid/rhabdoid tumor of the cervical spine in a 2-months-old infant.
  • Tumor cells were immunohistochemically positive for epithelial membrane antigen, vimentin, cytokeratins, S-100 protein, and CD57/Leu-7 antigen.
  • Despite chemotherapy, the infant presented with progressive neurological deterioration and died 6 months after initial diagnosis.
  • We review the literature on spinal malignant rhabdoid tumor and discuss the pathology, treatment, and outcome of these rare neoplasms.

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  • [ISSN] 1790-8019
  • [Journal-full-title] Hippokratia
  • [ISO-abbreviation] Hippokratia
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Greece
  • [Other-IDs] NLM/ PMC3031327
  • [Keywords] NOTNLM ; atypical teratoid tumor / chemotherapy / chromosome 22q / hydrocephalous / rhabdoid tumor / spine
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80. Ma HI, Kao CL, Lee YY, Chiou GY, Tai LK, Lu KH, Huang CS, Chen YW, Chiou SH, Cheng IC, Wong TT: Differential expression profiling between atypical teratoid/rhabdoid and medulloblastoma tumor in vitro and in vivo using microarray analysis. Childs Nerv Syst; 2010 Mar;26(3):293-303
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  • [Title] Differential expression profiling between atypical teratoid/rhabdoid and medulloblastoma tumor in vitro and in vivo using microarray analysis.
  • OBJECTIVES: Atypical teratoid/rhabdoid tumor (AT/RT) and medulloblastoma (MB) are the most malignant primary brain tumors in early childhood.
  • AT/RT is frequently misdiagnosed as primitive neuroectodermal tumor/medulloblastoma.
  • [MeSH-major] Brain Neoplasms / metabolism. Medulloblastoma / metabolism. Rhabdoid Tumor / metabolism. Teratoma / metabolism

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  • (PMID = 19902219.001).
  • [ISSN] 1433-0350
  • [Journal-full-title] Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
  • [ISO-abbreviation] Childs Nerv Syst
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Biomarkers; 0 / RNA, Messenger
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81. Arita K, Sugiyama K, Sano T, Oka H: Atypical teratoid/rhabdoid tumour in sella turcica in an adult. Acta Neurochir (Wien); 2008 May;150(5):491-5; discussion 496
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  • [Title] Atypical teratoid/rhabdoid tumour in sella turcica in an adult.
  • Although atypical teratoid rhabdoid tumours preferentially arise in the posterior fossa of infants, we encountered a 56 year old woman with an atypical teratoid rhabdoid tumour located in the sella.
  • Microscopically, the tumour was composed of cells with rhabdoid features; we observed atypia, eccentric nuclei, and intracytoplasmic inclusion bodies.
  • Despite extended local brain and whole-spine irradiation she died of neural axis dissemination.
  • [MeSH-major] Rhabdoid Tumor / diagnosis. Rhabdoid Tumor / therapy. Sella Turcica. Skull Neoplasms / diagnosis. Skull Neoplasms / therapy
  • [MeSH-minor] Diagnosis, Differential. Female. Humans. Leg. Magnetic Resonance Imaging. Middle Aged. Neurosurgical Procedures. Pain / etiology. Radiosurgery

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  • (PMID = 18309453.001).
  • [ISSN] 0942-0940
  • [Journal-full-title] Acta neurochirurgica
  • [ISO-abbreviation] Acta Neurochir (Wien)
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Austria
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82. Nishihira Y, Tan CF, Hirato J, Yoshimura J, Nishiyama K, Takahashi H, Fujii Y, Takahashi H: A case of congenital supratentorial tumor: atypical teratoid/rhabdoid tumor or primitive neuroectodermal tumor? Neuropathology; 2007 Dec;27(6):551-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A case of congenital supratentorial tumor: atypical teratoid/rhabdoid tumor or primitive neuroectodermal tumor?
  • Two embryonal CNS tumors, atypical teratoid/rabdoid tumor (AT/RT) and primitive neuroectodermal tumor (PNET), may be confused with each other and misdiagnosed.
  • Here we report an infant with a congenital supratentorial tumor, which was detected by fetal MRI at 37 weeks gestation.
  • On routine histological examination, the tumor was composed mainly of small undifferentiated cells, among which many rhabdoid cells and occasional sickle-shaped embracing cells were observed.
  • Our impression was that the tumor was an atypical example of AT/RT.
  • Immunohistochemically, almost all the tumor cells were strongly positive for vimentin.
  • However, epithelial membrane antigen was notably negative, and most of the tumor cell nuclei were clearly positive for INI1.
  • In addition, many tumor cells were positive for neurofilament protein.
  • There were also occasional small areas containing many tumor cells positive for glial fibrillary acidic protein.
  • Finally, a diagnosis of PNET, with a rhabdoid phenotype and expression of neuronal and glial markers, was made.
  • [MeSH-minor] Biomarkers, Tumor / analysis. Diagnosis, Differential. Female. Humans. Immunohistochemistry. Infant, Newborn. Pregnancy. Prenatal Diagnosis. Rhabdoid Tumor / congenital. Rhabdoid Tumor / metabolism. Rhabdoid Tumor / pathology

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  • [ErratumIn] Neuropathology. 2008 Feb;28(1):108
  • (PMID = 18021375.001).
  • [ISSN] 0919-6544
  • [Journal-full-title] Neuropathology : official journal of the Japanese Society of Neuropathology
  • [ISO-abbreviation] Neuropathology
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Australia
  • [Chemical-registry-number] 0 / Biomarkers, Tumor; 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / SMARCB1 protein, human; 0 / Transcription Factors
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83. Nagai S, Kurimoto M, Ishizawa S, Hayashi N, Hamada H, Kamiyama H, Endo S: A rare astrocytic tumor with rhabdoid features. Brain Tumor Pathol; 2009;26(1):19-24
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A rare astrocytic tumor with rhabdoid features.
  • We report an extremely rare tumor presenting with rhabdoid features in the left temporoparietal lobe near the trigone in an 18-year-old Japanese man.
  • This tumor mainly consisted of medium to large round cells that proliferated diffusely and incoherently with a scant extracellular matrix.
  • These tumor cells had an eccentric nucleus and an eosinophilic cytoplasm containing inclusion bodies and bundles of intermediate filaments.
  • This tumor had an area appearing to be diffuse astrocytoma peripherally and lacked a primitive neuroectodermal tumor component, a mesenchymal component, and epithelial differentiation.
  • INI expression, which is not observed in atypical teratoid/ rhabdoid tumor (AT/RT), was found in this tumor.
  • From these findings, we concluded that this tumor was not AT/RT but an astrocytic tumor with rhabdoid features.
  • We also concluded that the tumor cells exhibiting rhabdoid features had secondarily arisen from the peripheral area presenting an appearance of diffuse astrocytoma.
  • [MeSH-major] Astrocytoma / pathology. Brain Neoplasms / pathology. Rhabdoid Tumor / pathology

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  • (PMID = 19408093.001).
  • [ISSN] 1861-387X
  • [Journal-full-title] Brain tumor pathology
  • [ISO-abbreviation] Brain Tumor Pathol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Japan
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84. Meyers SP, Khademian ZP, Biegel JA, Chuang SH, Korones DN, Zimmerman RA: Primary intracranial atypical teratoid/rhabdoid tumors of infancy and childhood: MRI features and patient outcomes. AJNR Am J Neuroradiol; 2006 May;27(5):962-71
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Primary intracranial atypical teratoid/rhabdoid tumors of infancy and childhood: MRI features and patient outcomes.
  • BACKGROUND AND PURPOSE: Primary atypical teratoid/rhabdoid tumors (AT/RTs) are rare malignant intracranial neoplasms, usually occurring in young children.
  • The objectives of this study were to characterize the MR imaging features and locations of primary intracranial AT/RTs, to determine the frequency of disseminated disease in the central nervous system (CNS) at diagnosis and postoperatively, and to assess patient outcomes.
  • METHODS: The preoperative cranial MR images of 13 patients with AT/RTs were retrospectively reviewed for evaluation of lesion location, size, MR signal intensity and enhancement characteristics, and the presence of disseminated intracranial tumor.
  • Postoperative MR images of the head and spine for 17 patients were reviewed for the presence of locally recurrent or residual tumor and disseminated neoplasm.
  • 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.
  • 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.
  • 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).
  • Poor prognosis is associated with MR imaging evidence of disseminated leptomeningeal tumor.
  • [MeSH-major] Brain Neoplasms / diagnosis. Magnetic Resonance Imaging. Rhabdoid Tumor / diagnosis. Teratoma / diagnosis


85. Chi SN, Zimmerman MA, Yao X, Cohen KJ, Burger P, Biegel JA, Rorke-Adams LB, Fisher MJ, Janss A, Mazewski C, Goldman S, Manley PE, Bowers DC, Bendel A, Rubin J, Turner CD, Marcus KJ, Goumnerova L, Ullrich NJ, Kieran MW: Intensive multimodality treatment for children with newly diagnosed CNS atypical teratoid rhabdoid tumor. J Clin Oncol; 2009 Jan 20;27(3):385-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Intensive multimodality treatment for children with newly diagnosed CNS atypical teratoid rhabdoid tumor.
  • PURPOSE: Atypical teratoid rhabdoid tumor (ATRT) of the CNS is a highly malignant neoplasm primarily affecting young children, with a historic median survival ranging from 6 to 11 months.
  • Radiation therapy (RT) was prescribed, either focal (54 Gy) or craniospinal (36 Gy, plus primary boost), depending on age and extent of disease at diagnosis.
  • Median age at diagnosis was 26 months (range, 2.4 months to 19.5 years).
  • Gross total resection of the primary tumor was achieved in 11 patients.
  • Fourteen patients had M0 disease at diagnosis, one patient had M2 disease, and five patients had M3 disease.
  • CONCLUSION: This intensive multimodality regimen has resulted in a significant improvement in time to progression and overall survival for patients with this previously poor-prognosis tumor.
  • [MeSH-major] Brain Neoplasms / therapy. Rhabdoid Tumor / therapy. Teratoma / therapy