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1. Kao CL, Chiou SH, Chen YJ, Singh S, Lin HT, Liu RS, Lo CW, Yang CC, Chi CW, Lee CH, Wong TT: Increased expression of osteopontin gene in atypical teratoid/rhabdoid tumor of the central nervous system. Mod Pathol; 2005 Jun;18(6):769-78
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  • [Title] Increased expression of osteopontin gene in atypical teratoid/rhabdoid tumor of the central nervous system.
  • The atypical teratoid/rhabdoid tumor, primary to the central nervous system, is a highly malignant and aggressive neoplasm of infancy and childhood.
  • Although having distinct biological features and clinical outcomes, it is frequently misdiagnosed as primitive neuroectodermal tumor/medulloblastoma.
  • To further distinguish the underlying pathogenesis and to identify biological markers for clinical use, an atypical teratoid/rhabdoid tumor-derived cell line was established and its gene expression pattern analyzed in comparison to the human astrocyte SVG12 cell line and the human DAOY medulloblastoma cell line using a complementary DNA microarray method.
  • The osteopontin gene was found specifically upregulated in atypical teratoid/rhabdoid tumor cells.
  • This specificity was confirmed by immunohistochemistry in pathological sections of tissues from atypical teratoid/rhabdoid tumor patients.
  • Even though the role of osteopontin in the cytopathogenesis of atypical teratoid/rhabdoid tumor still needs to be determined, our data support that overexpressed osteopontin is a potential diagnostic marker for atypical teratoid/rhabdoid tumor.
  • [MeSH-major] Central Nervous System Neoplasms / pathology. Gene Expression Profiling. Rhabdoid Tumor / pathology. Sialoglycoproteins / genetics. Teratoma / pathology
  • [MeSH-minor] Cell Line. Cell Line, Tumor. Cluster Analysis. Gene Expression Regulation, Neoplastic / genetics. Humans. Immunohistochemistry. Medulloblastoma / genetics. Medulloblastoma / metabolism. Medulloblastoma / pathology. Nucleic Acid Hybridization / methods. Oligonucleotide Array Sequence Analysis. Osteopontin. Reverse Transcriptase Polymerase Chain Reaction

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  • (PMID = 15776015.001).
  • [ISSN] 0893-3952
  • [Journal-full-title] Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
  • [ISO-abbreviation] Mod. Pathol.
  • [Language] eng
  • [Publication-type] Comparative Study; 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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2. Nicolaides T, Tihan T, Horn B, Biegel J, Prados M, Banerjee A: High-dose chemotherapy and autologous stem cell rescue for atypical teratoid/rhabdoid tumor of the central nervous system. J Neurooncol; 2010 May;98(1):117-23
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] High-dose chemotherapy and autologous stem cell rescue for atypical teratoid/rhabdoid tumor of the central nervous system.
  • Atypical Teratoid/Rhabdoid tumors (AT/RT) of the central nervous system are rare but aggressive tumors of childhood.
  • Diagnosis was confirmed using molecular markers.
  • There are two long-term survivors (78 and 98 months from diagnosis).

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  • (PMID = 19936623.001).
  • [ISSN] 1573-7373
  • [Journal-full-title] Journal of neuro-oncology
  • [ISO-abbreviation] J. Neurooncol.
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / R01 CA046274-18; United States / NCI NIH HHS / CA / R01 CA046274; United States / NCI NIH HHS / CA / CA46274; United States / NCI NIH HHS / CA / T32 CA108462; United States / NCI NIH HHS / CA / CA046274-18; United States / NCI NIH HHS / CA / T32 CA108462-01
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Other-IDs] NLM/ NIHMS184133; NLM/ PMC2880232
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3. Samaras V, Stamatelli A, Samaras E, Stergiou I, Konstantopoulou P, Varsos V, Judkins AR, Biegel JA, Barbatis C: Atypical teratoid/rhabdoid tumor of the central nervous system in an 18-year-old patient. Clin Neuropathol; 2009 Jan-Feb;28(1):1-10
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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 in an 18-year-old patient.
  • OBJECTIVE: Atypical teratoid/rhabdoid tumors are aggressive neoplasms of the central nervous system occurring mainly in the early childhood and rarely in adults.
  • We described a case of this tumor in an 18-year-old male patient without previous medical history.
  • MATERIAL AND METHODS: The neoplasm was localized in the right frontotemporal area of the brain and was totally excised.
  • The histological and immunohistochemical features of the neoplasm were assessed, while sequencing analysis as well as interphase fluorescence in situ hybridization (FISH) were performed.
  • RESULTS: Histological and immunohistochemical analysis demonstrated atypical rhabdoid cells strongly and diffusely positive for EMA and Vimentin as well as focally immunoreactive for SMA and GFAP.
  • INI1 immunostaining demonstrated diffuse loss of nuclear INI1 expression in tumor cells.
  • Taken together, the results were consistent with a diagnosis of atypical teratoid/rhabdoid tumor (ATRT).
  • To our knowledge, this is the eighth case of an ATRT reported in an adult patient having genetic confirmation and the first one in which the tumor is, partly, localized in the right temporal area of the brain.
  • This unusual presentation underlines the necessity of considering this devastating neoplasm in the differential diagnosis of malignant brain tumors of young adults.

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  • (PMID = 19216214.001).
  • [ISSN] 0722-5091
  • [Journal-full-title] Clinical neuropathology
  • [ISO-abbreviation] Clin. Neuropathol.
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / CA046274-17A2; United States / NCI NIH HHS / CA / R01 CA046274; United States / NCI NIH HHS / CA / CA 46274; United States / NCI NIH HHS / CA / R01 CA046274-17A2
  • [Publication-type] Case Reports; Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / SMARCB1 protein, human; 0 / Transcription Factors
  • [Other-IDs] NLM/ NIHMS113796; NLM/ PMC2712356
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4. de León-Bojorge B, Rueda-Franco F, Anaya-Jara M: Central nervous system atypical teratoid rhabdoid tumor: experience at the National Institute of Pediatrics, Mexico City. Childs Nerv Syst; 2008 Mar;24(3):307-12
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  • [Title] Central nervous system atypical teratoid rhabdoid tumor: experience at the National Institute of Pediatrics, Mexico City.
  • OBJECTIVE: The purpose of this study is to present our experience with ten cases of Central nervous system atypical teratoid rhabdoid tumor (CNS/ATRT).
  • PATIENTS AND METHODS: A series of ten patients with CNS/ATRT, were diagnosed and treated between 1990 and 2005, at the National Institute of Pediatrics, in Mexico City.
  • The gender, age of presentation, clinical features, tumor localization, imaging studies, grade of tumor resection, complications, adjuvant therapy, and survival are presented.
  • RESULTS: The mean age at diagnosis was 37.8 months, seven cases were male, and their average clinical course was 1.3 months.
  • CONCLUSIONS: Preliminary results, show that in older children, we can improve their survival with the subtotal or total resection of the tumor and the addition of chemotherapy and radiotherapy.
  • [MeSH-major] Central Nervous System Neoplasms / pathology. Infratentorial Neoplasms / pathology. Rhabdoid Tumor / pathology. Supratentorial Neoplasms / pathology. Teratoma / pathology

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  • (PMID = 17876589.001).
  • [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] Journal Article
  • [Publication-country] Germany
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5. 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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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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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6. 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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7. Selcuk N, Elevli M, Inanc D, Arslan H: Atypical teratoid/rhabdoid tumor mimicking tuberculous meningitis. Indian Pediatr; 2008 Apr;45(4):325-6
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  • [Title] Atypical teratoid/rhabdoid tumor mimicking tuberculous meningitis.
  • Atypical teratoid/rhabdoid tumor of the central nervous system is a highly malignant neoplasm in infants and young children.
  • We report a 6 year-old girl with atypical teratoid/rhabdoid tumor.
  • Pathologic result revealed high grade atypical teratoid/rhabdoid tumor.
  • [MeSH-major] Rhabdoid Tumor / diagnosis. Teratoma / diagnosis. Tuberculosis, Meningeal / diagnosis
  • [MeSH-minor] Cerebrospinal Fluid. Child. Diagnosis, Differential. Female. Humans. Magnetic Resonance Imaging

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  • (PMID = 18451456.001).
  • [ISSN] 0019-6061
  • [Journal-full-title] Indian pediatrics
  • [ISO-abbreviation] Indian Pediatr
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] India
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8. Moeller KK, Coventry S, Jernigan S, Moriarty TM: Atypical teratoid/rhabdoid tumor of the spine. AJNR Am J Neuroradiol; 2007 Mar;28(3):593-5
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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 spine.
  • SUMMARY: Atypical teratoid/rhabdoid tumor (AT/RT) is a highly malignant central nervous system neoplasm usually seen in young children and infants.
  • [MeSH-major] Magnetic Resonance Imaging. Rhabdoid Tumor / pathology. Spinal Neoplasms / pathology. Teratoma / pathology
  • [MeSH-minor] Child. Diagnosis, Differential. Humans. Lumbar Vertebrae / pathology. Male. Thoracic Vertebrae / pathology

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  • (PMID = 17353344.001).
  • [ISSN] 0195-6108
  • [Journal-full-title] AJNR. American journal of neuroradiology
  • [ISO-abbreviation] AJNR Am J Neuroradiol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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9. 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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  • [Cites] Childs Nerv Syst. 2008 Jan;24(1):143-7 [17968559.001]
  • (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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10. 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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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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.
  • AT/RT can occur in the central nervous system (CNS AT/RT) and disease in this location carries an even worse prognosis with a median survival of 7 months.
  • In spite of multiple treatment regimens consisting of maximal surgical resection (including second look surgery), radiation therapy (focal and craniospinal), and multi-agent intravenous, oral and intrathecal chemotherapy, with or without high-dose therapy and stem cell rescue, only seven long-term survivors of CNS AT/RT have been reported, all in patients with newly diagnosed disease.
  • We now report on four children, two with newly diagnosed CNS AT/RT and two with progressive disease after multi-agent chemotherapy who are long term survivors (median follow-up of 37 months) using a combination of surgery, radiation therapy, and intensive chemotherapy.
  • [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
  • [Number-of-references] 37
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11. Singh A, Jairajpuri Z, Gupta V, Sharma S, Chand K: Atypical teratoid/rhabdoid tumor of the central nervous system associated with congenital cataract. Indian J Pathol Microbiol; 2008 Jul-Sep;51(3):389-91
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  • [Title] Atypical teratoid/rhabdoid tumor of the central nervous system associated with congenital cataract.
  • Atypical teratoid /rhabdoid tumor (AT/RT) of the central nervous system is a rare but highly aggressive neoplasm that usually affects young children and infants and follows a rapidly fatal course.
  • [MeSH-major] Central Nervous System Neoplasms / diagnosis. Central Nervous System Neoplasms / pathology. Rhabdoid Tumor / diagnosis. Rhabdoid Tumor / pathology. Teratoma / diagnosis. Teratoma / pathology
  • [MeSH-minor] Cataract / complications. Cataract / congenital. Central Nervous System / pathology. Fatal Outcome. Humans. Infant. Male

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  • (PMID = 18723966.001).
  • [ISSN] 0377-4929
  • [Journal-full-title] Indian journal of pathology & microbiology
  • [ISO-abbreviation] Indian J Pathol Microbiol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] India
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12. Athale UH, Duckworth J, Odame I, Barr R: Childhood atypical teratoid rhabdoid tumor of the central nervous system: a meta-analysis of observational studies. J Pediatr Hematol Oncol; 2009 Sep;31(9):651-63
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  • [Title] Childhood atypical teratoid rhabdoid tumor of the central nervous system: a meta-analysis of observational studies.
  • PURPOSE: Therapy for central nervous system (CNS) atypical teratoid rhabdoid tumor (ATRT) is controversial.
  • RESULTS: The median OS for patients treated with multiagent chemotherapy (n=79) was 17.3 months (range, 1.5-93 mo); unrelated to age at diagnosis, sex, tumor site, and extent of resection.
  • Patients (n=30) treated with intrathecal (IT) chemotherapy had significantly higher 2-year OS [64% (95% confidence interval, 46.5-82.0) vs. 17.3% (95% confidence interval, 5.4-29.3); P<0.0001] and lower prevalence of distant CNS metastasis compared with those without IT therapy (n=49) (20% vs. 59.2%; P=0.001).
  • CONCLUSIONS: Despite dismal OS, multimodal therapy can induce remission even in metastatic CNS ATRT with partial resection.
  • [MeSH-major] Brain Neoplasms / epidemiology. Rhabdoid Tumor / epidemiology. Teratoma / epidemiology
  • [MeSH-minor] Adolescent. Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Child. Child, Preschool. Cisplatin / administration & dosage. Combined Modality Therapy. Craniotomy. Cyclophosphamide / administration & dosage. Dactinomycin / administration & dosage. Doxorubicin / administration & dosage. Etoposide / administration & dosage. Fatal Outcome. Female. Humans. Infant. Infant, Newborn. Injections, Spinal. Kaplan-Meier Estimate. Male. Prognosis. Prospective Studies. Spinal Neoplasms / diagnosis. Spinal Neoplasms / drug therapy. Spinal Neoplasms / epidemiology. Spinal Neoplasms / radiotherapy. Spinal Neoplasms / surgery. Treatment Outcome. Vincristine / administration & dosage

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  • (PMID = 19707161.001).
  • [ISSN] 1536-3678
  • [Journal-full-title] Journal of pediatric hematology/oncology
  • [ISO-abbreviation] J. Pediatr. Hematol. Oncol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Meta-Analysis
  • [Publication-country] United States
  • [Chemical-registry-number] 1CC1JFE158 / Dactinomycin; 5J49Q6B70F / Vincristine; 6PLQ3CP4P3 / Etoposide; 80168379AG / Doxorubicin; 8N3DW7272P / Cyclophosphamide; Q20Q21Q62J / Cisplatin
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13. Partap S, Murphy PA, Vogel H, Barnes PD, Edwards MS, Fisher PG: Efficacy and tolerability of intrathecal liposomal cytarabine for central nervous system embryonal tumors. J Clin Oncol; 2009 May 20;27(15_suppl):2064

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Efficacy and tolerability of intrathecal liposomal cytarabine for central nervous system embryonal tumors.
  • METHODS: We reviewed all patients at our institution treated with liposomal cytarabine for primary central nervous system (CNS) embryonal tumors-MB, primitive neuroectodermal tumor (PNET), and atypical teratoid rhabdoid tumor (ATRT).
  • RESULTS: A cohort of 17 patients were treated with liposomal cytarabine at diagnosis of CNS embryonal tumor (2 PNET, 3 ATRT) or relapse (12 MB [7 average-risk, 5 high-risk]); nine had leptomeningeal metastases.
  • All six evaluable patients with malignant cerebrospinal fluid (CSF) cytology and treated with at least two doses cleared their spinal fluid (mean 3 doses, range 1-5).
  • No patient developed malignant CSF cytology while receiving liposomal cytarabine.
  • All patients with neoplastic meningitis cleared malignant cells from their spinal fluid after treatment with IT liposomal cytarabine and systemic chemotherapy.
  • Our findings warrant a phase II trial of liposomal cytarabine in newly diagnosed or recurrent CNS embryonal tumors.

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  • (PMID = 27964690.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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14. Gidwani P, Levy A, Goodrich J, Weidenheim K, Kolb EA: Successful outcome with tandem myeloablative chemotherapy and autologous peripheral blood stem cell transplants in a patient with atypical teratoid/rhabdoid tumor of the central nervous system. J Neurooncol; 2008 Jun;88(2):211-5
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  • [Title] Successful outcome with tandem myeloablative chemotherapy and autologous peripheral blood stem cell transplants in a patient with atypical teratoid/rhabdoid tumor of the central nervous system.
  • Atypical teratoid rhabdoid tumors (ATRT) are highly malignant tumors of the central nervous system with a peak incidence in children less than 3 years of age.
  • We herein report the case of a 4-month-old boy with ATRT with partial resection of his tumor who achieved complete remission using tandem high-dose therapy followed by autologous peripheral blood stem cell re-infusions despite having biopsy proven disease at the time of starting the tandem regimens.
  • [MeSH-major] Central Nervous System Neoplasms / therapy. Myeloablative Agonists / therapeutic use. Peripheral Blood Stem Cell Transplantation / methods. Rhabdoid Tumor / therapy

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  • (PMID = 18317689.001).
  • [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 / Myeloablative Agonists
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15. 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

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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.
  • The neoplasm was localised in the left frontal region and was totally excised.
  • 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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16. Chen YW, Wong TT, Ho DM, Huang PI, Chang KP, Shiau CY, Yen SH: Impact of radiotherapy for pediatric CNS atypical teratoid/rhabdoid tumor (single institute experience). Int J Radiat Oncol Biol Phys; 2006 Mar 15;64(4):1038-43
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  • [Title] Impact of radiotherapy for pediatric CNS atypical teratoid/rhabdoid tumor (single institute experience).
  • PURPOSE: To assess outcomes and prognostic factors in radiotherapy of pediatric central nervous system atypical teratoid/rhabdoid tumor (AT/RT).
  • METHODS AND MATERIALS: Seventeen patients with central nervous system AT/RT were retrospectively reviewed after curative radiotherapy as primary or adjuvant therapy between January 1990 and December 2003.
  • The 3 longest-surviving patients were older, underwent gross tumor removal, and completed both craniospinal and focal boost irradiation.
  • [MeSH-major] Brain Neoplasms / radiotherapy. Rhabdoid Tumor / radiotherapy. Teratoma / radiotherapy

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  • [CommentIn] Int J Radiat Oncol Biol Phys. 2006 Jul 15;65(4):1273; author reply 1273-4 [16798419.001]
  • (PMID = 16406394.001).
  • [ISSN] 0360-3016
  • [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
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17. Biegel JA: Molecular genetics of atypical teratoid/rhabdoid tumor. Neurosurg Focus; 2006;20(1):E11
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  • [Title] Molecular genetics of atypical teratoid/rhabdoid tumor.
  • Rhabdoid tumors are extremely aggressive malignancies that generally occur in infants and young children.
  • The most common locations are the kidney and central nervous system (atypical teratoid/rhabdoid tumor [RT]), although RTs can also arise in most soft-tissue sites.
  • Rhabdoid tumors in all anatomical locations have a similar molecular origin.
  • [MeSH-major] Central Nervous System Neoplasms / genetics. Chromosomes, Human, Pair 22. Kidney Neoplasms / genetics. Molecular Biology / methods. Rhabdoid Tumor / genetics

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  • (PMID = 16459991.001).
  • [ISSN] 1092-0684
  • [Journal-full-title] Neurosurgical focus
  • [ISO-abbreviation] Neurosurg Focus
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / CA46274
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / SMARCB1 protein, human; 0 / Transcription Factors
  • [Number-of-references] 44
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18. Bing F, Nugues F, Grand S, Bessou P, Salon C: Primary intracranial extra-axial and supratentorial atypical rhabdoid tumor. Pediatr Neurol; 2009 Dec;41(6):453-6
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  • [Title] Primary intracranial extra-axial and supratentorial atypical rhabdoid tumor.
  • An atypical teratoid/rhabdoid tumor of the central nervous system is an aggressive infantile embryonal neoplasm, usually presenting as an infratentorial and intraparenchymatous lesion.
  • We report on magnetic resonance imaging findings of a 22-month-old boy with a biopsy-proven primary rhabdoid tumor, presenting as a single intracranial supratentorial extra-axial mass.
  • Based on the patient's age and imaging features (perfusion, diffusion magnetic resonance imaging, and magnetic resonance spectroscopy), a diagnosis of atypical teratoid/rhabdoid tumor was more accurate than diagnoses of meningioma and primitive neuroectodermal tumor.
  • Although this entity is relatively rare, it should be considered in the differential diagnosis of dural-based, space-occupying central nervous system lesions.
  • [MeSH-major] Brain Neoplasms / diagnosis. Brain Neoplasms / pathology. Rhabdoid Tumor / diagnosis. Rhabdoid Tumor / pathology. Supratentorial Neoplasms / diagnosis. Supratentorial Neoplasms / pathology
  • [MeSH-minor] Brain / metabolism. Brain / pathology. Brain / surgery. Brain Edema / pathology. Diagnosis, Differential. Diffusion Magnetic Resonance Imaging. Humans. Infant. Magnetic Resonance Imaging. Magnetic Resonance Spectroscopy. Male. Neoplasm Recurrence, Local. Treatment Outcome

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  • (PMID = 19931170.001).
  • [ISSN] 1873-5150
  • [Journal-full-title] Pediatric neurology
  • [ISO-abbreviation] Pediatr. Neurol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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19. Kazan S, Göksu E, Mihci E, Gökhan G, Keser I, Gürer I: Primary atypical teratoid/rhabdoid tumor of the clival region. Case report. J Neurosurg; 2007 Apr;106(4 Suppl):308-11
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  • [Title] Primary atypical teratoid/rhabdoid tumor of the clival region. Case report.
  • An atypical teratoid/rhabdoid tumor of the central nervous system (CNS) is a rare, aggressive neoplasm found in infants and children that has similar characteristics to CNS primitive neuroectodermal tumors/medulloblastomas.
  • The authors present the case of a patient with an atypical teratoid/rhabdoid tumor and discuss the imaging, histopathological, immunohistochemical, and cytogenetic findings.
  • Tumor cells displayed positive reactions for vimentin, epithelial membrane antigen, and cytokeratin, and they displayed no reaction for glial fibrillary acidic protein, desmin, and actin.
  • The phenotype of an atypical teratoid/rhabdoid tumor appears heterogeneous when examined by histological, immunohistochemical, and genetic analysis.
  • The authors describe the case of a 4-year-old boy who harbored an atypical teratoid/rhabdoid tumor in the clivus, which appeared as a chordoma on neuroimages.
  • To their knowledge, this location of an atypical teratoid/rhabdoid tumor has not been described in the literature.
  • [MeSH-major] Cranial Fossa, Posterior. Rhabdoid Tumor / pathology. Skull Base Neoplasms / pathology. Teratoma / pathology

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  • (PMID = 17465367.001).
  • [ISSN] 0022-3085
  • [Journal-full-title] Journal of neurosurgery
  • [ISO-abbreviation] J. Neurosurg.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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20. 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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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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

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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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21. Judkins AR, Burger PC, Hamilton RL, Kleinschmidt-DeMasters B, Perry A, Pomeroy SL, Rosenblum MK, Yachnis AT, Zhou H, Rorke LB, Biegel JA: INI1 protein expression distinguishes atypical teratoid/rhabdoid tumor from choroid plexus carcinoma. J Neuropathol Exp Neurol; 2005 May;64(5):391-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] INI1 protein expression distinguishes atypical teratoid/rhabdoid tumor from choroid plexus carcinoma.
  • Central nervous system atypical teratoid/rhabdoid tumor (AT/RT) and choroid plexus carcinoma (CPC) are rare, highly malignant tumors that predominantly arise in infants and young children.
  • Overlapping clinical, histologic, ultrastructural, or immunophenotypic features may obscure the diagnosis in some cases.
  • AT/RT is characterized by deletions and/or mutations of the INI1 tumor-suppressor gene on chromosome band 22q11.2.
  • Negative staining of tumor cells resulting from inactivation of the INI1 gene is a consistent feature of AT/RT.
  • We examined 28 tumors with a submitted diagnosis of CPC.
  • [MeSH-major] Biomarkers, Tumor / metabolism. Carcinoma / metabolism. Choroid Plexus Neoplasms / metabolism. DNA-Binding Proteins / metabolism. Gene Expression Regulation, Neoplastic / physiology. Teratoma / metabolism

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  • (PMID = 15892296.001).
  • [ISSN] 0022-3069
  • [Journal-full-title] Journal of neuropathology and experimental neurology
  • [ISO-abbreviation] J. Neuropathol. Exp. Neurol.
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / CA46274; United States / NCI NIH HHS / CA / CA98543
  • [Publication-type] Comparative Study; 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] United States
  • [Chemical-registry-number] 0 / Biomarkers, Tumor; 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / Mucin-1; 0 / SMARCB1 protein, human; 0 / Transcription Factors
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22. Sasani M, Oktenoglu T, Ozer AF, Sarioglu AC: Giant supratentorial atypical teratoid/rhabdoid tumor presentation: a case of a five-year-old child with favorable outcome and review of the literature. Pediatr Neurosurg; 2007;43(2):149-54
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Giant supratentorial atypical teratoid/rhabdoid tumor presentation: a case of a five-year-old child with favorable outcome and review of the literature.
  • Atypical teratoid/rhabdoid tumor of the central nervous system is a highly malignant neoplasm and that usually arises in the posterior fossa, survival from this is frequently poor.
  • We present a unique case in a 21-month-old girl who had an atypical teratoid/rhabdoid tumor with cystic components located in the right fronto-parietal lobe.
  • Two years later at the last follow-up visit, there was no evidence of a tumor relapse on MRI, and the examination was symptom free.
  • It is possible the favorable outcome of the patient resulted from a rapid diagnosis, prompt management, radical surgical intervention and aggressive chemotherapy.
  • [MeSH-major] Frontal Lobe / surgery. Parietal Lobe / surgery. Rhabdoid Tumor / surgery. Supratentorial Neoplasms / surgery. Teratoma / surgery
  • [MeSH-minor] Actins / analysis. Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Biomarkers, Tumor / analysis. Chemotherapy, Adjuvant. Combined Modality Therapy. Diagnosis, Differential. Female. Follow-Up Studies. Glial Fibrillary Acidic Protein / analysis. Humans. Infant. Keratins / analysis. Magnetic Resonance Imaging. Microsurgery. Mitotic Index. Necrosis. Neurologic Examination. Vimentin / analysis

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  • [Copyright] Copyright (c) 2007 S. Karger AG, Basel.
  • (PMID = 17337931.001).
  • [ISSN] 1016-2291
  • [Journal-full-title] Pediatric neurosurgery
  • [ISO-abbreviation] Pediatr Neurosurg
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] Switzerland
  • [Chemical-registry-number] 0 / Actins; 0 / Biomarkers, Tumor; 0 / Glial Fibrillary Acidic Protein; 0 / Vimentin; 68238-35-7 / Keratins
  • [Number-of-references] 14
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23. 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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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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.
  • 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
  • [MeSH-minor] Adolescent. Adult. Child. Child, Preschool. Enzyme-Linked Immunosorbent Assay. Humans. Infant. Infant, Newborn. Medulloblastoma / metabolism. Medulloblastoma / mortality. Medulloblastoma / pathology. Neoplasm Recurrence, Local. Osteopontin. Survival Rate

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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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24. Reddy AT: Atypical teratoid/rhabdoid tumors of the central nervous system. J Neurooncol; 2005 Dec;75(3):309-13

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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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  • (PMID = 16195799.001).
  • [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
  • [Number-of-references] 19
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25. Chen ML, McComb JG, Krieger MD: Atypical teratoid/rhabdoid tumors of the central nervous system: management and outcomes. Neurosurg Focus; 2005 Jun 15;18(6A):E8

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Atypical teratoid/rhabdoid tumors of the central nervous system: management and outcomes.
  • OBJECT: Atypical teratoid/rhabdoid tumors (ATRTs) represent a relatively newly categorized neoplastic entity.
  • Signs and symptoms began, on average, a little more than 1 month before diagnosis and included the following: headache (36%), nausea and vomiting (46%), lethargy (18%), seizures (27%), cranial nerve findings (46%), ataxia (18%), long tract findings (18%), and hydrocephalus (46%).
  • Tumor location was cortical in four patients, in the pineal region in four, in the posterior fossa in two, and spinal in one.
  • In one patient disseminated disease was revealed on the initial imaging study; seven patients had disseminated tumor subsequently.
  • CONCLUSIONS: Atypical teratoid/rhabdoid tumors are malignant lesions with rapid progression.
  • [MeSH-major] Central Nervous System Neoplasms / therapy. Rhabdoid Tumor / therapy. Teratoma / therapy

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  • (PMID = 16048294.001).
  • [ISSN] 1092-0684
  • [Journal-full-title] Neurosurgical focus
  • [ISO-abbreviation] Neurosurg Focus
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article
  • [Publication-country] United States
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26. 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.
  • Our review underscores the importance or enrolling patients in multi-institutional prospective studies to further investigate the value of radiation to treat this pediatric neoplasm.
  • [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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27. El-Nabbout B, Shbarou R, Glasier CM, Saad AG: Primary diffuse cerebral leptomeningeal atypical teratoid rhabdoid tumor: report of the first case. J Neurooncol; 2010 Jul;98(3):431-4
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Primary diffuse cerebral leptomeningeal atypical teratoid rhabdoid tumor: report of the first case.
  • Atypical teratoid rhabdoid tumor (AT/RT) of the central nervous system has been recently described as a distinct clinicopathological entity with characteristic morphologic, immunophenotypic and molecular characteristics.
  • [MeSH-major] Central Nervous System Neoplasms / pathology. Meningeal Neoplasms / pathology. Rhabdoid Tumor / pathology

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  • (PMID = 20020178.001).
  • [ISSN] 1573-7373
  • [Journal-full-title] Journal of neuro-oncology
  • [ISO-abbreviation] J. Neurooncol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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28. Agrawal A, Bhake A, Cincu R: Giant lumbar paraspinal atypical teratoid/rhabdoid tumor in a child. J Cancer Res Ther; 2009 Oct-Dec;5(4):318-20
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  • [Title] Giant lumbar paraspinal atypical teratoid/rhabdoid tumor in a child.
  • Atypical teratoid/rhabdoid tumor (AT/RT) is a highly aggressive and uncommon tumor of the central nervous system, primarily affecting young children.
  • [MeSH-major] Rhabdoid Tumor / pathology. Spinal Neoplasms / pathology. Teratoma / pathology

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  • (PMID = 20160373.001).
  • [ISSN] 1998-4138
  • [Journal-full-title] Journal of cancer research and therapeutics
  • [ISO-abbreviation] J Cancer Res Ther
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] India
  • [Chemical-registry-number] 0 / Antineoplastic Agents
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29. 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.
  • CONCLUSION: This finding supports the concept that ATRTs as the majority of central nervous system embryonal tumors may derive from an immature and pluripotent neuroectodermal cell capable of differentiating along multiple lineages.
  • [MeSH-major] Cerebral Ventricle Neoplasms / ultrastructure. Ependyma / ultrastructure. Rhabdoid Tumor / ultrastructure. Teratoma / ultrastructure

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  • [Cites] Cancer Res. 2005 May 15;65(10 ):4012-9 [15899790.001]
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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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30. Lee IH, Yoo SY, Kim JH, Eo H, Kim OH, Kim IO, Cheon JE, Jung AY, Yoon BJ: Atypical teratoid/rhabdoid tumors of the central nervous system: imaging and clinical findings in 16 children. Clin Radiol; 2009 Mar;64(3):256-64
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  • [Title] Atypical teratoid/rhabdoid tumors of the central nervous system: imaging and clinical findings in 16 children.
  • AIM: To investigate the imaging and clinical findings of central nervous system (CNS) atypical teratoid/rhabdoid tumours (AT/RTs) in children.
  • MATERIALS AND METHODS: The computed tomography (CT) and magnetic resonance imaging (MRI) findings and clinical records of 16 children with CNS AT/RTs were retrospectively reviewed.
  • Tumour location, size, composition, enhancement pattern, peritumoural oedema, signal intensity (SI) on MRI and CT attenuation were evaluated.
  • Tumour location was infratentorial for 11 lesions and supratentorial for six lesions.
  • The mean diameter of the largest dimension for a tumour was 4 cm.
  • The tumour was mainly solid in 65% of cases, and solid and cystic or cystic and solid in 35% of cases.
  • In spite of a large tumour size, peritumoural oedema was minimal or mild except in four cases.
  • Rapid growth of the tumour was demonstrated in three cases.
  • Seven patients died from tumour progression, with a mean survival time of 8.4 months (range 2-12 months).
  • Rapid growth of the tumour was seen during the follow-up period.
  • [MeSH-major] Brain Neoplasms / diagnosis. Rhabdoid Tumor / diagnosis

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  • (PMID = 19185655.001).
  • [ISSN] 1365-229X
  • [Journal-full-title] Clinical radiology
  • [ISO-abbreviation] Clin Radiol
  • [Language] eng
  • [Publication-type] Journal Article; Multicenter Study
  • [Publication-country] England
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31. 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.
  • [MeSH-major] Brain Neoplasms / pathology. Diseases in Twins / pathology. Fertilization in Vitro. Rhabdoid Tumor / pathology. Teratoma / pathology

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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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32. Niwa T, Aida N, Tanaka M, Okubo J, Sasano M, Shishikura A, Fujita K, Ito S, Tanaka Y, Kigasawa H: Diffusion-weighted imaging of an atypical teratoid/rhabdoid tumor of the cervical spine. Magn Reson Med Sci; 2009;8(3):135-8
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  • [Title] Diffusion-weighted imaging of an atypical teratoid/rhabdoid tumor of the cervical spine.
  • Spinal atypical teratoid/rhabdoid tumor (AT/RT) is a rare, aggressive malignant neoplasm of the central nervous system usually seen in young children and infants.
  • High signal on DWI and low apparent diffusion coefficients may represent high cellularity of the tumor.
  • These findings indicated a highly malignant tumor.
  • [MeSH-major] Cervical Vertebrae. Diffusion Magnetic Resonance Imaging / methods. Rhabdoid Tumor / pathology. Spinal Cord Neoplasms / pathology. Teratoma / pathology
  • [MeSH-minor] Child. Diagnosis, Differential. Humans. Immunohistochemistry. Male

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  • (PMID = 19783876.001).
  • [ISSN] 1880-2206
  • [Journal-full-title] Magnetic resonance in medical sciences : MRMS : an official journal of Japan Society of Magnetic Resonance in Medicine
  • [ISO-abbreviation] Magn Reson Med Sci
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Japan
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33. 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.
  • Around 200 cases of CNS AT/RT have been documented in the literature.
  • 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

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  • (PMID = 18382974.001).
  • [ISSN] 1019-5149
  • [Journal-full-title] Turkish neurosurgery
  • [ISO-abbreviation] Turk Neurosurg
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] Turkey
  • [Number-of-references] 18
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34. 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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35. 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.
  • 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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  • (PMID = 15981100.001).
  • [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 / 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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36. 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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37. 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.
  • [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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38. 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
  • [MeSH-minor] Child, Preschool. Cisplatin / administration & dosage. Combined Modality Therapy. Cranial Irradiation. Cyclophosphamide / administration & dosage. Etoposide / administration & dosage. Female. Humans. Infant. Male. Neoplasm Metastasis. Radiotherapy Dosage. Retrospective Studies. Survival Rate. Treatment Outcome. Vincristine / administration & dosage

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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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39. Garrè ML, Tekautz T: Role of high-dose chemotherapy (HDCT) in treatment of atypical teratoid/rhabdoid tumors (AT/RTs). Pediatr Blood Cancer; 2010 Apr;54(4):647-8
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  • [Title] Role of high-dose chemotherapy (HDCT) in treatment of atypical teratoid/rhabdoid tumors (AT/RTs).
  • Atypical teratoid/rhabdoid tumors (AT/RTs) of the CNS have been recently characterized as a distinct clinicopathologic entity with an unusually poor prognosis and with the highest incidence in the first 2 years of life.
  • It often arises in the posterior fossa and its distinctive immunohistochemical (negative stain for INI-1) and cytogenetic features (monosomy or deletion of chromosome 22) permit an adequate diagnosis in most of cases.
  • AT/RT of the CNS is a usually fatal disease virtually unresponsive to chemotherapy (CT) and radiotherapy (RT).
  • Rapid progression and CNS dissemination are commonly reported.
  • Whether combined regimens including high-dose CT are able to prolong survival or change the natural history of this tumor are under evaluation.
  • [MeSH-major] Antineoplastic Agents / therapeutic use. Central Nervous System Neoplasms / drug therapy. Rhabdoid Tumor / drug therapy. Teratoma / drug therapy

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  • (PMID = 20146222.001).
  • [ISSN] 1545-5017
  • [Journal-full-title] Pediatric blood & cancer
  • [ISO-abbreviation] Pediatr Blood Cancer
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antineoplastic Agents
  • [Number-of-references] 18
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40. D'cunja J, Shalaby T, Rivera P, von Büren A, Patti R, Heppner FL, Arcaro A, Rorke-Adams LB, Phillips PC, Grotzer MA: Antisense treatment of IGF-IR induces apoptosis and enhances chemosensitivity in central nervous system atypical teratoid/rhabdoid tumours cells. Eur J Cancer; 2007 Jul;43(10):1581-9
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  • [Title] Antisense treatment of IGF-IR induces apoptosis and enhances chemosensitivity in central nervous system atypical teratoid/rhabdoid tumours cells.
  • Central nervous system (CNS) atypical teratoid/rhabdoid tumours (AT/RT) are among the paediatric malignant tumours with the worst prognosis and fatal outcome.
  • Moreover, we found IGF-I and IGF-II mRNA in BT-16 CNS AT/RT cells and IGF-II mRNA in BT-12 CNS AT/RT cells, and autophosphorylated IGF-IR in both cell lines, indicating the potential presence of an autocrine/paracrine IGF-I/II/IGF-IR loop in CNS AT/RT.
  • IGF-IR antisense oligonucleotide treatment of human CNS AT/RT cells resulted in significant down-regulation of IGF-IR mRNA and protein expression, induction of apoptosis, and chemosensitisation to doxorubicin and cisplatin.
  • These studies provide evidence for the influence of IGF-IR on cellular responses to chemotherapy and raise the possibility that curability of selected CNS AT/RT may be improved by pharmaceutical strategies directed towards the IGF-IR.
  • [MeSH-major] Apoptosis / drug effects. Central Nervous System Neoplasms / drug therapy. Oligoribonucleotides, Antisense / therapeutic use. Receptor, IGF Type 1 / drug effects. Rhabdoid Tumor / drug therapy. Teratoma / drug therapy


41. 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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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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.
  • Heterogeneity on imaging, large size and high tumor stages are striking features reflecting the aggressive nature of this histopathological entity.
  • Although not present in the majority of children, a distinct and unusual pattern of a wavy band-like enhancement surrounding a central hypointensity was present in 12 of 32 children (38%) in whom contrast medium was used.
  • [MeSH-major] Brain Neoplasms / diagnosis. Magnetic Resonance Imaging. Rhabdoid Tumor / diagnosis. Spinal Cord Neoplasms / diagnosis. Teratoma / diagnosis. Tomography, X-Ray Computed

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  • (PMID = 18345534.001).
  • [ISSN] 0028-3940
  • [Journal-full-title] Neuroradiology
  • [ISO-abbreviation] Neuroradiology
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Germany
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42. 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

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  • (PMID = 16687525.001).
  • [ISSN] 0195-6108
  • [Journal-full-title] AJNR. American journal of neuroradiology
  • [ISO-abbreviation] AJNR Am J Neuroradiol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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43. Rahmat K, Kua CH, Ramli N: A child with atypical teratoid/rhabdoid tumour of the posterior cranial fossa. Singapore Med J; 2008 Dec;49(12):e365-8

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A child with atypical teratoid/rhabdoid tumour of the posterior cranial fossa.
  • Primary central nervous system (CNS) atypical teratoid/rhabdoid tumours (ATRT) are highly malignant neoplasms which usually present in infancy or early childhood.
  • Although ATRT may arise anywhere within the CNS, the majority (approximately two-thirds) arise in the cerebellum or posterior fossa, and the remainder in the cerebrum.
  • We described the imaging characteristics of CNS ATRT in the posterior cranial fossa of a 14-month-old boy.
  • [MeSH-major] Cranial Fossa, Posterior. Rhabdoid Tumor / diagnosis. Skull Base Neoplasms / diagnosis. Teratoma / diagnosis

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  • (PMID = 19122937.001).
  • [ISSN] 0037-5675
  • [Journal-full-title] Singapore medical journal
  • [ISO-abbreviation] Singapore Med J
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Singapore
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44. 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.
  • AT/RT is a recently established entity of the central nervous system.
  • [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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45. Huddleston BJ, Sjostrom CM, Collins BT: Atypical teratoid/rhabdoid tumor involving cerebrospinal fluid: a case report. Acta Cytol; 2010 Sep-Oct;54(5 Suppl):958-62
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  • [Title] Atypical teratoid/rhabdoid tumor involving cerebrospinal fluid: a case report.
  • BACKGROUND: Atypical teratoid/rhabdoid tumor (AT/RT) is a rare, aggressive tumor of the central nervous system.
  • It is important for pathologists to recognize the cytomorphologic features of AT/RT in the CSF of patients with this tumor to help determine prognosis and disease progression.
  • [MeSH-major] Rhabdoid Tumor / cerebrospinal fluid. Rhabdoid Tumor / pathology. Spinal Neoplasms / cerebrospinal fluid. Spinal Neoplasms / pathology. Teratoma / cerebrospinal fluid. Teratoma / pathology

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  • (PMID = 21053577.001).
  • [ISSN] 0001-5547
  • [Journal-full-title] Acta cytologica
  • [ISO-abbreviation] Acta Cytol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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46. 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.
  • METHODS: Thirteen children newly diagnosed with CNS AT/RT were treated with either the "Head Start I" (HS I) or "Head Start II" (HS II) regimens.
  • There are presently three event-free survivors 42+, 54+, and 67+ months following diagnosis; none received RT.
  • CONCLUSION: Three of seven children with CNS AT/RT treated on HS II have experienced long term remissions.
  • Long term survival can be achieved in a subset of young children with CNS AT/RT following resection with the use of multi-drug chemotherapy including high dose methotrexate and myeloablative chemotherapy without radiation therapy (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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47. 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.
  • Archival paraffin-embedded biopsy specimens of 289 malignant pediatric CNS tumors including medulloblastomas, supratentorial primitive neuroectodermal tumors, glioblastomas, anaplastic astrocytomas, anaplastic ependymomas, choroid plexus carcinomas, germ cell tumors, and AT/RTs were analyzed immunohistochemically for expression of nuclear INI1 protein.
  • 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.
  • We conclude that INI1 protein analysis should be routinely performed in all malignant pediatric embryonal CNS tumors to detect cases with lack of INI1 protein, because patients with these tumors are likely to benefit from intensified treatment.
  • [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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48. Yano S, Hida K, Kobayashi H, Iwasaki Y: Successful multimodal therapies for a primary atypical teratoid/rhabdoid tumor in the cervical spine. Pediatr Neurosurg; 2008;44(5):406-13
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  • [Title] Successful multimodal therapies for a primary atypical teratoid/rhabdoid tumor in the cervical spine.
  • Atypical teratoid/rhabdoid tumor (AT/RT) occurring in the central nervous system is a high-grade malignant tumor, and its prognosis is poor for patients younger than 3 years of age.
  • At the age of nearly 3 years, she received radiation therapy to the local tumor bed and craniospinal axis.
  • The success of this treatment for the patient was that we could prevent tumor recurrence until she was able to receive radiotherapy.
  • [MeSH-major] Cervical Vertebrae / pathology. Rhabdoid Tumor / drug therapy. Spinal Neoplasms / drug therapy. Teratoma / drug therapy

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  • [Copyright] (c) 2008 S. Karger AG, Basel.
  • (PMID = 18703889.001).
  • [ISSN] 1423-0305
  • [Journal-full-title] Pediatric neurosurgery
  • [ISO-abbreviation] Pediatr Neurosurg
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] Switzerland
  • [Chemical-registry-number] 0 / Antineoplastic Agents
  • [Number-of-references] 22
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49. 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.
  • As compared with other malignant CNS tumors, their biological behavior is particularly aggressive, but patients may benefit from an intensified treatment.
  • Atypical teratoid/rhabdoid tumors display a complex histomorphology, which renders them prone to misdiagnosis.
  • They occur predominantly in young children, with an estimated prevalence of 1% to 2% among all pediatric CNS tumors.
  • 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.
  • A central histopathology review was performed including the assessment of SMARCB1 (INI1) protein status.
  • RESULTS: A total of 311 newly diagnosed, malignant CNS tumors were included.
  • 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.
  • Peak incidence was found in the birth to 2 years age group, where they were as common as CNS primitive neuroectodermal tumors and medulloblastomas.
  • 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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50. 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.
  • The 13 described adult cases comprise both primary CNS tumors and malignant transformation of previously existing gliomas, meningiomas, and astrocytomas.
  • 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
  • [Publication-country] United States
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51. Narendran A, Coppes L, Jayanthan A, Coppes M, Teja B, Bernoux D, George D, Strother D: Establishment of atypical-teratoid/rhabdoid tumor (AT/RT) cell cultures from disseminated CSF cells: a model to elucidate biology and potential targeted therapeutics. J Neurooncol; 2008 Nov;90(2):171-80
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  • [Title] Establishment of atypical-teratoid/rhabdoid tumor (AT/RT) cell cultures from disseminated CSF cells: a model to elucidate biology and potential targeted therapeutics.
  • Atypical teratoid/rhabdoid tumor (AT/RT) is a highly malignant central nervous system neoplasm that usually affects infants and young children.
  • In this report, we describe culture conditions that enabled the sustained growth of tumor cells obtained from the cerebrospinal fluid (CSF) of an infant with AT/RT.
  • These cells retained the morphological and biomarker characteristics of the original tumor.
  • In addition to previously described cell lines and xenograft models, continuous culture of CSF derived cells may also provide an effective way to study the biology of AT/RT and to identify potential targets for future therapeutics for this tumor.
  • [MeSH-major] Platelet Aggregation Inhibitors / therapeutic use. Rhabdoid Tumor / cerebrospinal fluid. Rhabdoid Tumor / drug therapy
  • [MeSH-minor] Actins / metabolism. Cell Proliferation. Chromosomal Proteins, Non-Histone / metabolism. DNA-Binding Proteins / metabolism. Dose-Response Relationship, Drug. Glial Fibrillary Acidic Protein / metabolism. Humans. Infant. Inhibitory Concentration 50. Male. Models, Biological. Nuclear Proteins / metabolism. Receptor Protein-Tyrosine Kinases / metabolism. SMARCB1 Protein. Transcription Factors / metabolism. Tumor Cells, Cultured / pathology. Vimentin / metabolism

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  • (PMID = 18651103.001).
  • [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 / Actins; 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / Glial Fibrillary Acidic Protein; 0 / Nuclear Proteins; 0 / Platelet Aggregation Inhibitors; 0 / SMARCB1 Protein; 0 / SMARCB1 protein, human; 0 / Transcription Factors; 0 / Vimentin; EC 2.7.10.1 / Receptor Protein-Tyrosine Kinases
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52. Tekautz TM, Fuller CE, Blaney S, Fouladi M, Broniscer A, Merchant TE, Krasin M, Dalton J, Hale G, Kun LE, Wallace D, Gilbertson RJ, Gajjar A: Atypical teratoid/rhabdoid tumors (ATRT): improved survival in children 3 years of age and older with radiation therapy and high-dose alkylator-based chemotherapy. J Clin Oncol; 2005 Mar 1;23(7):1491-9
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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 tumors (ATRT): improved survival in children 3 years of age and older with radiation therapy and high-dose alkylator-based chemotherapy.
  • PURPOSE: To describe clinical features, therapeutic approaches, and prognostic factors in pediatric patients with atypical teratoid/rhabdoid tumors (ATRT) treated at St Jude Children's Research Hospital (SJCRH).
  • PATIENTS AND METHODS: Primary tumor samples from patients diagnosed with ATRT at SJCRH between July 1984 and June 2003 were identified.
  • Posterior fossa primary lesions and metastatic disease at diagnosis were more common in younger patients with ATRT.
  • [MeSH-major] Central Nervous System Neoplasms / therapy. Neoplasms, Germ Cell and Embryonal / therapy. Rhabdoid Tumor / therapy. Teratoma / therapy

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  • (PMID = 15735125.001).
  • [ISSN] 0732-183X
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / CA 21765
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / SMARCC1 protein, human; 0 / Transcription Factors
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53. Gyure KA: Newly defined central nervous system neoplasms. Am J Clin Pathol; 2005 Jun;123 Suppl:S3-12
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  • [Title] Newly defined central nervous system neoplasms.
  • In recent years, numerous new entities or variants of recognized central nervous system tumors have been described in the literature, and the morphologic spectrum of these neoplasms is delineated incompletely.
  • The accurate diagnosis and classification of these lesions is important to ensure that patients receive adequate therapy and prognostic information.
  • The clinicopathologic features and differential diagnosis of 4 new entities, including the chordoid glioma of the third ventricle, cerebellar liponeurocytoma, atypical teratoid/rhabdoid tumor, and papillary glioneuronal tumor, are discussed in this review.
  • [MeSH-major] Central Nervous System Neoplasms / classification. Central Nervous System Neoplasms / diagnosis
  • [MeSH-minor] Adult. Cerebellar Neoplasms / classification. Cerebellar Neoplasms / diagnosis. Child. Chordoma / classification. Chordoma / diagnosis. Diagnosis, Differential. Female. Ganglioglioma / classification. Ganglioglioma / diagnosis. Glioma / diagnosis. Glioma / pathology. Humans. Hypothalamic Neoplasms / classification. Hypothalamic Neoplasms / diagnosis. Male. Medulloblastoma / classification. Medulloblastoma / diagnosis. Prognosis. Rhabdoid Tumor / classification. Rhabdoid Tumor / diagnosis. Teratoma / classification. Teratoma / diagnosis. Third Ventricle / pathology

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  • (PMID = 16100866.001).
  • [ISSN] 0002-9173
  • [Journal-full-title] American journal of clinical pathology
  • [ISO-abbreviation] Am. J. Clin. Pathol.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 81
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54. Morgenstern DA, Gibson S, Brown T, Sebire NJ, Anderson J: Clinical and pathological features of paediatric malignant rhabdoid tumours. Pediatr Blood Cancer; 2010 Jan;54(1):29-34
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Clinical and pathological features of paediatric malignant rhabdoid tumours.
  • BACKGROUND: Malignant rhabdoid tumours (MRT) and their central nervous system (CNS) counterparts atypical teratoid/rhabdoid tumours (ATRT) are rare, highly aggressive malignant neoplasms of childhood.
  • [MeSH-major] Rhabdoid Tumor / pathology. Teratoma / pathology
  • [MeSH-minor] Adolescent. Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Biomarkers, Tumor / analysis. Child. Combined Modality Therapy. Female. Humans. Immunoenzyme Techniques. Infant. Male. Neoplasm Staging. Prognosis. Radiotherapy. Retrospective Studies. Survival Rate. Treatment Outcome

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  • [Copyright] Copyright 2009 Wiley-Liss, Inc.
  • (PMID = 19653294.001).
  • [ISSN] 1545-5017
  • [Journal-full-title] Pediatric blood & cancer
  • [ISO-abbreviation] Pediatr Blood Cancer
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Biomarkers, Tumor
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55. Cheng JX, Tretiakova M, Gong C, Mandal S, Krausz T, Taxy JB: Renal medullary carcinoma: rhabdoid features and the absence of INI1 expression as markers of aggressive behavior. Mod Pathol; 2008 Jun;21(6):647-52
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  • [Title] Renal medullary carcinoma: rhabdoid features and the absence of INI1 expression as markers of aggressive behavior.
  • Renal medullary carcinoma is a rare, well-recognized highly aggressive tumor of varied histopathology, which occurs in young patients with sickle cell trait or disease.
  • Rhabdoid elements, occasionally seen in high-grade renal tumors including renal medullary carcinoma, possibly represent a pathologic marker of aggressive behavior.
  • Loss of this factor in mice results in aggressive rhabdoid tumors or lymphomas.
  • In humans, the loss of INI1 expression has been reported in pediatric renal rhabdoid tumors, central nervous system atypical teratoid/rhabdoid tumors and epithelioid sarcomas, a possible primary soft tissue rhabdoid tumor.
  • This study compares five renal medullary carcinomas with 10 high-grade renal cell carcinomas (five with rhabdoid features), two urothelial carcinomas and two pediatric renal rhabdoid tumors.
  • All five renal medullary carcinomas, irrespective of histopathology, showed complete loss of INI1 expression similar to that seen in pediatric renal rhabdoid tumors.
  • In contrast, all renal cell carcinomas or urothelial carcinomas, including those with histological rhabdoid features, expressed INI1.
  • Clinically, all five of the patients with renal medullary carcinoma and the two patients with rhabdoid tumors presented with extra-renal metastases at the time of diagnosis.
  • This study demonstrates that renal medullary carcinoma and renal rhabdoid tumor share a common molecular/genetic alteration, which is closely linked to their aggressive biological behavior.
  • However, the absence of INI1 expression is not necessarily predictive of rhabdoid histopathology but remains associated with aggressive behavior in renal medullary carcinoma.
  • [MeSH-major] Biomarkers, Tumor / analysis. Carcinoma, Renal Cell / pathology. Chromosomal Proteins, Non-Histone / biosynthesis. DNA-Binding Proteins / biosynthesis. Kidney Neoplasms / pathology. Rhabdoid Tumor / pathology. Transcription Factors / biosynthesis

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  • (PMID = 18327209.001).
  • [ISSN] 0893-3952
  • [Journal-full-title] Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
  • [ISO-abbreviation] Mod. 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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56. 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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  • [Title] Central nervous system primitive neuroectodermal tumors: a clinicopathologic and genetic study of 33 cases.
  • 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.
  • We conclude that in CNS PNET: (i) routine application of INI1 immunohistochemistry helps rule out AT/RT, particularly in infants;.
  • (iii) involvement of CNS parenchyma by Ewing sarcoma/peripheral PNET is rare enough that EWS gene testing is not necessary unless significant dural involvement is present; and (iv) both anaplastic/large cell features and polysomies of 2 and 8 are associated with more aggressive clinical behavior.
  • [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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57. Frühwald MC, Hasselblatt M, Wirth S, Köhler G, Schneppenheim R, Subero JI, Siebert R, Kordes U, Jürgens H, Vormoor J: Non-linkage of familial rhabdoid tumors to SMARCB1 implies a second locus for the rhabdoid tumor predisposition syndrome. Pediatr Blood Cancer; 2006 Sep;47(3):273-8
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  • [Title] Non-linkage of familial rhabdoid tumors to SMARCB1 implies a second locus for the rhabdoid tumor predisposition syndrome.
  • BACKGROUND: Rhabdoid tumors represent an independent entity among embryonal neoplasms.
  • These tumors affect the kidney (RTK, rhabdoid tumor of kidney) and central nervous system (AT/RT, atypical teratoid, rhabdoid tumor), but may also be found in peripheral soft tissue.
  • Unifying features include immunohistochemical characteristics and inactivation of the putative tumor suppressor gene SMARCB1 (hSNF5/INI1) in chromosome 22q11.2.
  • Several familial cases have been published and summarized under the term rhabdoid tumor predisposition syndrome.
  • In all of the published familial cases, inactivation of SMARCB1 was detected in tumor tissues.
  • PROCEDURE AND RESULTS: We report on a family with three children, two of which were affected by rhabdoid tumors, one RTK, the other an AT/RT.
  • Immunohistochemistry for SMARCB1 showed normal expression within the nuclei of tumor cells.
  • CONCLUSIONS: We thus demonstrate a family with rhabdoid tumor predisposition syndrome without linkage to SMARCB1.
  • [MeSH-major] Chromosomal Proteins, Non-Histone / genetics. DNA-Binding Proteins / genetics. Genetic Linkage. Rhabdoid Tumor / genetics. Transcription Factors / genetics

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  • [CommentIn] Pediatr Blood Cancer. 2006 Sep;47(3):235-7 [16304667.001]
  • (PMID = 16206192.001).
  • [ISSN] 1545-5009
  • [Journal-full-title] Pediatric blood & cancer
  • [ISO-abbreviation] Pediatr Blood Cancer
  • [Language] eng
  • [Publication-type] Case Reports; Comparative Study; 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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58. Tena-Suck ML, Gómez-Amador JL, Ortiz-Plata A, Salina-Lara C, Rembao-Bojórquez D, Vega-Orozco R: Rhabdoid choroid plexus carcinoma: a rare histological type. Arq Neuropsiquiatr; 2007 Sep;65(3A):705-9
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  • [Title] Rhabdoid choroid plexus carcinoma: a rare histological type.
  • Primary central nervous system atypical teratoid/rhabdoid tumors mostly occur during early childhood and are almost invariably fatal.
  • These tumors show similar histological and radiological features to primitive neuroectodermal tumor, medulloblastoma and choroid plexus carcinoma, but present different biological behaviors.
  • CT-scan and MRI revealed a posterior fossa tumor.
  • Histological examination showed two different main growth patterns: solid sheets of undifferentiated polygonal cells with papillary features and rhabdoid cells.
  • Immunohistochemically, these rhabdoid cells were positive for vimentin, epithelial membrane antigen, smooth-muscle actin, cytokeratin, S-100 protein, and glial fibrillary acidic protein.
  • Electro-microscopically, the typical rhabdoid cells contained whorled bundles of intermediate filaments in their cytoplasm.
  • A rhabdoid tumor is a clinical-pathological entity and emphasizes the necessity to distinguish this unique tumor from other pediatric central nervous system neoplasms.
  • [MeSH-major] Carcinoma / ultrastructure. Choroid Plexus Neoplasms / ultrastructure. Rhabdoid Tumor / ultrastructure

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  • (PMID = 17876420.001).
  • [ISSN] 0004-282X
  • [Journal-full-title] Arquivos de neuro-psiquiatria
  • [ISO-abbreviation] Arq Neuropsiquiatr
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Brazil
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59. 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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  • [Title] Congenital tumors of the central nervous system.
  • Congenital tumors of the central nervous system (CNS) are often arbitrarily divided into "definitely congenital" (present or producing symptoms at birth), "probably congenital" (present or producing symptoms within the first week of life), and "possibly congenital" (present or producing symptoms within the first 6 months of life).
  • 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.
  • They are often immature because of primitive neural elements and, rarely, a component of mixed malignant germ cell tumors.
  • Other tumors include astrocytomas, choroid plexus papilloma, primitive neuroectodermal tumors, atypical teratoid/rhabdoid tumors, and medulloblastomas.
  • 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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  • (PMID = 20428859.001).
  • [ISSN] 1432-1920
  • [Journal-full-title] Neuroradiology
  • [ISO-abbreviation] Neuroradiology
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Germany
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60. Edgar MA, Rosenblum MK: The differential diagnosis of central nervous system tumors: a critical examination of some recent immunohistochemical applications. Arch Pathol Lab Med; 2008 Mar;132(3):500-9

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] The differential diagnosis of central nervous system tumors: a critical examination of some recent immunohistochemical applications.
  • These will be used for purposes of tumor subclassification, as prognostic markers, as identifiers of potential therapeutic targets, and as predictors of treatment response.
  • OBJECTIVE: To provide for nonspecialists a critical assessment of the peer-reviewed literature (necessarily colored by our own experience) as it pertains to several immunohistochemical reagents that have been recently forwarded as adjuncts to the histologic typing of central nervous system tumors.
  • CONCLUSIONS: Discussion concentrates on the use of 4 antibodies: BAF47 in the diagnosis of atypical teratoid/ rhabdoid tumor, OCT4 in intracranial germinoma, beta-catenin in craniopharyngioma, and NeuN as a marker of neuronal differentiation in neuroepithelial neoplasms.
  • [MeSH-major] Biomarkers, Tumor / analysis. Central Nervous System Neoplasms / diagnosis
  • [MeSH-minor] Diagnosis, Differential. Humans. Immunohistochemistry

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  • (PMID = 18318590.001).
  • [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 / Biomarkers, Tumor
  • [Number-of-references] 75
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61. Wu X, Dagar V, Algar E, Muscat A, Bandopadhayay P, Ashley D, Wo Chow C: Rhabdoid tumour: a malignancy of early childhood with variable primary site, histology and clinical behaviour. Pathology; 2008 Dec;40(7):664-70
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  • [Title] Rhabdoid tumour: a malignancy of early childhood with variable primary site, histology and clinical behaviour.
  • AIMS: To correlate the immunostaining for INI1 protein and mutations in INI1 gene in possible rhabdoid tumours (RT) and atypical teratoid/rhabdoid tumours (AT/RT) seen at the Royal Children's Hospital in the last 10 years, and to study the clinicopathological features of those patients with negative nuclear staining.
  • In these 13 patients, the primary tumour was in the central nervous system (CNS) in seven, in the soft tissue in three, in the liver in two and in the kidney in one.
  • Only five tumours showed large areas of rhabdoid cells.
  • In two an alternative diagnosis, ependymoma or myoepithelial carcinoma of soft tissue, was initially suggested.
  • All the CNS tumours were positive for EMA, GFAP, and SMA.
  • As relatively few tumours showed uniform populations of rhabdoid cells, and some showed features suggesting another diagnosis, INI1 staining should be checked in all high grade CNS tumours and malignant extraCNS tumours where the diagnosis is unclear.
  • [MeSH-major] Biomarkers, Tumor / genetics. Chromosomal Proteins, Non-Histone / genetics. DNA-Binding Proteins / genetics. Rhabdoid Tumor / genetics. Rhabdoid Tumor / pathology. Transcription Factors / genetics

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  • (PMID = 18985520.001).
  • [ISSN] 0031-3025
  • [Journal-full-title] Pathology
  • [ISO-abbreviation] Pathology
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [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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62. Varan A, Akalan N, Söylemezoğlu F, Zorlu F, Yalçin B, Akyüz C, Kutluk T, Büyükpamukçu M: Central nervous system tumors in patients under three years of age: treatment results of a single institute. Pediatr Neurosurg; 2006;42(2):89-94
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Central nervous system tumors in patients under three years of age: treatment results of a single institute.
  • Eighty-six patients under 3 years of age with central nervous system tumors were retrospectively analyzed between 1972 and 2003.
  • Surgical resection was done in all patients except for those with optic glioma, pons glioma and pineal tumor.
  • In 48 patients, the tumor was located in the posterior fossa, and 29 patients had a supratentorial tumor.
  • We had 32 (37.2%) patients with embryonic tumors (21 medulloblastoma, 4 ependymoblastoma, 5 with atypical teratoid rhabdoid and 2 with supratentorial primitive neuroectodermal tumors), 21 (24.4%) with ependymoma, 14 (16.3%) with optic glioma, 10 (11.6%) with astrocytoma, 3 (3.5%) with pons glioma and 6 (7.0%) with others.
  • OS rates according to the tumor localizations were 40.9 and 68.1% in the posterior fossa and supratentorial localizations, respectively (p=0.001).
  • OS rates were 33.7, 41.3 and 88.8% for the medulloblastoma+primitive neuroectodermal tumor groups, ependymoma and astrocytoma, respectively (p=0.0001).
  • The best prognostic factors were tumor localization and histology.
  • [MeSH-major] Central Nervous System Neoplasms / mortality. Central Nervous System Neoplasms / therapy. Neoplasms, Germ Cell and Embryonal / mortality. Neoplasms, Germ Cell and Embryonal / therapy
  • [MeSH-minor] Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Child, Preschool. Female. Humans. Infant. Infant, Newborn. Male. Prognosis. Retrospective Studies. Rhabdoid Tumor / mortality. Rhabdoid Tumor / pathology. Rhabdoid Tumor / therapy. Survival Rate

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  • [Copyright] Copyright (c) 2006 S. Karger AG, Basel.
  • (PMID = 16465077.001).
  • [ISSN] 1016-2291
  • [Journal-full-title] Pediatric neurosurgery
  • [ISO-abbreviation] Pediatr Neurosurg
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Switzerland
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63. Lafay-Cousin L, Strother D: Current treatment approaches for infants with malignant central nervous system tumors. Oncologist; 2009 Apr;14(4):433-44
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  • [Title] Current treatment approaches for infants with malignant central nervous system tumors.
  • Nearly three decades of infant brain tumor clinical trials have led to significant progress in the delineation of prognostic factors and improvements in outcome.
  • This review covers the most recent therapeutic advances for the most common histological subtypes of malignant infant brain tumors: medulloblastoma, supratentorial primitive neuroectodermal tumor, ependymoma, atypical teratoid rhabdoid tumor, choroid plexus carcinoma, and high-grade glioma.
  • [MeSH-minor] Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Carcinoma / therapy. Cerebellar Neoplasms / therapy. Chemotherapy, Adjuvant. Choroid Plexus Neoplasms / therapy. Clinical Trials as Topic. Clinical Trials, Phase III as Topic. Ependymoma / therapy. Evidence-Based Medicine. Glioma / therapy. Humans. Infant. Medulloblastoma / therapy. Meta-Analysis as Topic. Neuroectodermal Tumors, Primitive / therapy. Prognosis. Radiotherapy Dosage. Radiotherapy, Adjuvant. Rhabdoid Tumor / therapy. Stem Cell Transplantation. Supratentorial Neoplasms / therapy

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  • (PMID = 19342475.001).
  • [ISSN] 1549-490X
  • [Journal-full-title] The oncologist
  • [ISO-abbreviation] Oncologist
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 116
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64. 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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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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.
  • [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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65. 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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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Update on diagnostic practice: tumors of the nervous system.
  • 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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66. Rezanko T, Tunakan M, Kahraman A, Sucu HK, Gelal F, Akkol I: Primary rhabdoid tumor of the brain in an adult. Neuropathology; 2006 Feb;26(1):57-61
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  • [Title] Primary rhabdoid tumor of the brain in an adult.
  • Rhabdoid tumor (RT) is an uncommon childhood neoplasm that typically arises within the kidney.
  • Since its description in 1978, several cases of primary extrarenal RT, including a CNS localization, have been reported.
  • The first case in the CNS was reported in 1985 and was defined as "rhabdoid tumor" initially, and was classified as grade IV in the most recent classification of the World Health Organization under the term of "atypical teratoid/rhabdoid tumor".
  • Nearly 200 cases of atypical teratoid/rhabdoid tumor of the CNS have been reported to date, most of them occurring in childhood.
  • This tumor, which was composed purely of rhabdoid cells with no additional primitive neuroectodermal, epithelial and mesenchymal components, was in a 27-year-old male patient.
  • In conclusion, RT should be considered also in the differential diagnosis of intracerebral neoplasms of adult patients.
  • [MeSH-major] Brain Neoplasms / pathology. Rhabdoid Tumor / pathology
  • [MeSH-minor] Adult. Biomarkers, Tumor / analysis. Diagnosis, Differential. Humans. Immunohistochemistry. Male. Meningioma / pathology

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  • (PMID = 16521480.001).
  • [ISSN] 0919-6544
  • [Journal-full-title] Neuropathology : official journal of the Japanese Society of Neuropathology
  • [ISO-abbreviation] Neuropathology
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Australia
  • [Chemical-registry-number] 0 / Biomarkers, Tumor
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67. 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.
  • Based on a previous pilot series, a prospective multi-institutional trial was conducted for patients with newly diagnosed CNS ATRT.
  • 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

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  • (PMID = 19064966.001).
  • [ISSN] 1527-7755
  • [Journal-full-title] Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • [ISO-abbreviation] J. Clin. Oncol.
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / R01 CA046274; United States / NCI NIH HHS / CA / R01 CA046274-17A2; United States / NCI NIH HHS / CA / CA46274
  • [Publication-type] Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Other-IDs] NLM/ PMC2645855
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68. 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.
  • Whether INI1 plays a role in the pathogenesis of other central nervous system tumors is uncertain.
  • 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.

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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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69. 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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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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 a human homologue of a C. elegans gene, unc-33, that is developmentally regulated during maturation of the nervous system.
  • 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.
  • 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).
  • The results of this study indicate that the expression of hUlip protein is distinctly restricted to the late fetal and early postnatal periods of human nervous system development and to certain subsets of nervous system tumors.
  • The exact function of hUlip needs to be further clarified; yet the results of our study strongly imply that hUlip function is important in human nervous system development and its aberrant expression in various types of nervous system tumors suggests a role of hUlip as an oncofetal neural antigen.
  • [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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70. Judkins AR: Immunohistochemistry of INI1 expression: a new tool for old challenges in CNS and soft tissue pathology. Adv Anat Pathol; 2007 Sep;14(5):335-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Immunohistochemistry of INI1 expression: a new tool for old challenges in CNS and soft tissue pathology.
  • Loss of expression of INI1 as detected by immunohistochemical staining correlates with deletion and mutations of the INI1 gene in patients with malignant rhabdoid tumors and central nervous system atypical teratoid/rhabdoid tumors and as such is a sensitive and specific marker for these tumors.
  • Loss of INI1 expression may rarely be encountered in other tumor types.
  • [MeSH-major] Biomarkers, Tumor / metabolism. Central Nervous System Neoplasms / diagnosis. Chromosomal Proteins, Non-Histone / metabolism. DNA-Binding Proteins / metabolism. Immunohistochemistry / methods. Soft Tissue Neoplasms / diagnosis. Transcription Factors / metabolism

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  • (PMID = 17717433.001).
  • [ISSN] 1072-4109
  • [Journal-full-title] Advances in anatomic pathology
  • [ISO-abbreviation] Adv Anat Pathol
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [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
  • [Number-of-references] 20
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71. Feiden S, Sartorius E, Feiden W: [The role of diagnostic neuropathology in familial tumour syndromes]. Pathologe; 2010 Oct;31(6):464-70

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [The role of diagnostic neuropathology in familial tumour syndromes].
  • Inherited cancer syndromes often involve the central and peripheral nervous system.
  • 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.
  • Furthermore, tumour location and patient age may point to a familial tumour syndrome as in the case of neurofibromatosis type 2 (NF2) with typical bilateral vestibular schwannoma in young age.
  • [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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  • (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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72. 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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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] High-dose chemotherapy with autologous stem cell rescue for children with recurrent malignant brain tumors.
  • BACKGROUND: High-dose chemotherapy (HDCT) with autologous stem cell rescue (ASCR) has been reported to be effective in treating children with recurrent central nervous system (CNS) malignancies.
  • METHODS: To evaluate the efficacy and toxicities of HDCT and ASCR, the medical records of 27 children with recurrent CNS malignancies who received such therapy at St. Jude Children's Research Hospital between 1989 and 2004 were reviewed.
  • 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.
  • CONCLUSIONS: HDCT with ASCR is not an effective salvage strategy for older children with recurrent CNS malignancies.
  • [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

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  • [Copyright] Copyright (c) 2008 American Cancer Society.
  • (PMID = 18224664.001).
  • [ISSN] 0008-543X
  • [Journal-full-title] Cancer
  • [ISO-abbreviation] Cancer
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / R25 CA023944; United States / NCI NIH HHS / CA / CA 21765
  • [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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73. 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.
  • It has been suggested that this neoplasm should be considered as a separate entity.
  • ETANTR is an eminently pediatric tumor that has been reported exclusively in children younger than 4 years.
  • ILLUSTRATIVE CASES: A 9-month-old girl underwent subtotal resection of a brainstem neoplasm.
  • A 23-month-old girl was submitted to surgery for a frontoparietal tumor.
  • In both instances, the histopathological diagnosis confirmed ETANTR.
  • CONCLUSIONS: By reporting these two new instances of ETANTR, we want to contribute to the knowledge of this highly malignant CNS embryonal neoplasm that occurs only in young children, given its present lethal prognosis, the scarcity of reported cases, and the lack of treatment guidelines.

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  • (PMID = 20499240.001).
  • [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 / Antineoplastic Agents
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74. 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
Hazardous Substances Data Bank. CYTARABINE .

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  • 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).
  • [MeSH-minor] Adolescent. Child. Child, Preschool. Compassionate Use Trials. Delayed-Action Preparations. Drug Resistance, Neoplasm. Female. Humans. Infant. Injections, Spinal. Liposomes / administration & dosage. Male. Retrospective Studies. Salvage Therapy. Young Adult

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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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75. Varan A, Sari N, Akalan N, Söylemezoğlu F, Akyüz C, Kutluk T, Büyükpamukçu M: Extraneural metastasis in intracranial tumors in children: the experience of a single center. J Neurooncol; 2006 Sep;79(2):187-90
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  • Our aim is to evaluate the clinical features and outcomes of children with primary central nervous system (CNS) tumors who develop extraneural metastasis (ENM).
  • We retrospectively evaluated children diagnosed with primary CNS tumors treated at our institution between 1972 and 2004.
  • The histopathologic diagnosis was medulloblastoma in six patients, germ cell tumors in two patients, and ependymoma and atypical teratoid rhabdoid tumor (ATRT) in one patient each.
  • In six patients, the primary tumor was located in the posterior fossa; it had a supratentorial location in the patient with ATRT, was located in the sellar and suprasellar region in the two patients with germ cell tumors, and was found in the distal spinal cord in the patient with an ependymoma.
  • In two patients ENM was detected at the time of diagnosis.
  • In other patients ENM developed between 9 and 25 months after diagnosis.
  • One patient with dysgerminoma is alive, without disease, 117.80 months after diagnosis of the ENM.
  • One patient with germ cell tumor is alive with disease 11.3 months after diagnosis of the ENM.
  • The outcome is poor in patients with CNS tumors with ENM.
  • [MeSH-major] Central Nervous System Neoplasms / pathology. Liver Neoplasms / secondary. Lung Neoplasms / secondary. Medulloblastoma / secondary. Neoplasms, Germ Cell and Embryonal / pathology
  • [MeSH-minor] Adolescent. Bone Marrow Neoplasms / mortality. Bone Marrow Neoplasms / secondary. Bone Neoplasms / mortality. Bone Neoplasms / secondary. Child. Child, Preschool. Ependymoma / mortality. Ependymoma / secondary. Female. Humans. Male. Neoplasm Metastasis. Prognosis. Retrospective Studies. Rhabdoid Tumor / mortality. Rhabdoid Tumor / secondary. Teratoma / mortality. Teratoma / secondary

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76. MacDonald TJ: Aggressive infantile embryonal tumors. J Child Neurol; 2008 Oct;23(10):1195-204
The Lens. Cited by Patents in .

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  • 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.
  • All are similarly aggressive and have a tendency to disseminate throughout the central nervous system.
  • 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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77. 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.
  • Taken together, our results reveal a novel role for autocrine signalling by insulin and the IR in growth and survival of malignant human CNS tumour cells via the PI3K/Akt pathway.
  • [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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78. 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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  • Temozolomide is a newly developed chemotherapeutic agent in central nervous system tumors.
  • 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.
  • [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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79. 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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80. 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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  • 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-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

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  • [Copyright] Copyright © 2010 S. Karger AG, Basel.
  • (PMID = 20962551.001).
  • [ISSN] 1423-0305
  • [Journal-full-title] Pediatric neurosurgery
  • [ISO-abbreviation] Pediatr Neurosurg
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Switzerland
  • [Chemical-registry-number] 0 / Ki-67 Antigen; 0 / TP53 protein, human; 0 / Tumor Suppressor Protein p53; EC 2.7.10.1 / EGFR protein, human; EC 2.7.10.1 / ERBB2 protein, human; EC 2.7.10.1 / Receptor, Epidermal Growth Factor; EC 2.7.10.1 / Receptor, ErbB-2
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81. Mohapatra I, Santosh V, Chickabasaviah YT, Mahadevan A, Tandon A, Ghosh A, Chidambaram B, Sampath S, Bhagavatula ID, Chandramouli BA, Kolluri SV, Shankar SK: Histological and immunohistochemical characterization of AT/RT: a report of 15 cases from India. Neuropathology; 2010 Jun;30(3):251-9
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  • Atypical teratoid rhabdoid tumor (AT/RT) is a highly malignant embryonal CNS tumor, generally unresponsive to any form of therapy, uniformly fatal within 1 year.
  • The tumors exhibited diverse histological profile that included rhabdoid and PNET areas in all cases, mesenchymal and epithelial areas in 73.3% and 53.3% cases, respectively.
  • Tumor cells displayed a polyphenotypic immunoprofile.
  • [MeSH-major] Central Nervous System Neoplasms / chemistry. Central Nervous System Neoplasms / pathology. Rhabdoid Tumor / chemistry. Rhabdoid Tumor / pathology. Teratoma / chemistry. Teratoma / pathology

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  • (PMID = 19925561.001).
  • [ISSN] 1440-1789
  • [Journal-full-title] Neuropathology : official journal of the Japanese Society of Neuropathology
  • [ISO-abbreviation] Neuropathology
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article
  • [Publication-country] Australia
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82. 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!*.
  • Ependymoblastoma is a diagnostic label that has been applied to a variety of rare central nervous system (CNS) tumors over the last eight decades.
  • 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).
  • Our results indicate that ependymoblastic rosettes are most frequently encountered in embryonal tumors with abundant neuropil and less frequently in other CNS embryonal neoplasms, including PNET, MB and 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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83. Momota H, Holland EC: Mouse models of CNS embryonal tumors. Brain Tumor Pathol; 2009;26(2):43-50

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Mouse models of CNS embryonal tumors.
  • Central nervous system (CNS) embryonal tumors are devastating cancers in children, consisting of medulloblastomas, CNS primitive neuroectodermal tumors, and atypical teratoid/rhabdoid tumors.
  • One of the reasons that CNS embryonal tumors remain difficult to treat is their rarity, which makes conducting clinical trials for these tumors difficult.
  • Based on the genetic alterations found in humans, multiple models of human CNS embryonal tumors have been generated in genetically engineered mice.
  • These mouse models are valuable tools for understanding brain tumor biology and discovering novel therapeutic targets and drugs.
  • In this article, we review molecular and cytogenetic characteristics of human CNS embryonal tumors and corresponding mouse models that have been developed.
  • These findings indicate that common genetic abnormalities are seen in variants of human CNS embryonal tumors, and multiple histological variants of these tumors can be generated from a single set of genetic abnormalities in mice.
  • These data provide insight into the biology and classification of CNS embryonal tumors.
  • [MeSH-major] Central Nervous System Neoplasms / genetics. Disease Models, Animal. Neoplasms, Germ Cell and Embryonal / genetics

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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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84. Fouladi M, Gururangan S, Moghrabi A, Phillips P, Gronewold L, Wallace D, Sanford RA, Gajjar A, Kun LE, Heideman R: Carboplatin-based primary chemotherapy for infants and young children with CNS tumors. Cancer; 2009 Jul 15;115(14):3243-53
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  • [Title] Carboplatin-based primary chemotherapy for infants and young children with CNS tumors.
  • BACKGROUND: A carboplatin-based chemotherapy regimen was used as primary postoperative therapy in infants with central nervous system (CNS) tumors to limit renal and ototoxicity and to target systemic exposure.
  • METHODS: Fifty-three patients aged <age 3 years with embryonal CNS tumor medulloblastoma (n = 20), ependymoma (EP, n = 21), choroid plexus carcinoma (CPCA, n = 5), and primitive embryonal neoplasms including atypical teratoid rhabdoid tumors (n = 7) were treated with cyclophosphamide, etoposide, and carboplatin.
  • For medulloblastoma, the 5-year PFS was 26% +/- 9%; for EP it was 33% +/- 10%; for CPCA it was 80% +/- 18%; and for primitive neuroectodermal and atypical teratoid rhabdoid tumors it was 0%.
  • [MeSH-major] Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Carboplatin / administration & dosage. Central Nervous System Neoplasms / drug therapy

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  • (PMID = 19484793.001).
  • [ISSN] 0008-543X
  • [Journal-full-title] Cancer
  • [ISO-abbreviation] Cancer
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / P30 CA021765; United States / NCI NIH HHS / CA / P30 CA021765-30; United States / NCI NIH HHS / CA / R25 CA023944; United States / NCI NIH HHS / CA / CA21765
  • [Publication-type] Clinical Trial, Phase II; Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 6PLQ3CP4P3 / Etoposide; 8N3DW7272P / Cyclophosphamide; BG3F62OND5 / Carboplatin
  • [Other-IDs] NLM/ NIHMS124374; NLM/ PMC4307774
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85. Santagata S, Hornick JL, Ligon KL: Comparative analysis of germ cell transcription factors in CNS germinoma reveals diagnostic utility of NANOG. Am J Surg Pathol; 2006 Dec;30(12):1613-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Comparative analysis of germ cell transcription factors in CNS germinoma reveals diagnostic utility of NANOG.
  • To assess the diagnostic utility of NANOG in central nervous system (CNS) germ cell tumors, we analyzed its expression by immunohistochemistry in a series of 12 CNS germinomas and compared its expression with other stem cell markers.
  • Strong nuclear expression of NANOG was demonstrated in >90% of the tumor cells in all cases.
  • NANOG was not detected in tumor types frequently considered in the differential diagnosis of CNS germinoma: pineoblastoma, primitive neuroectodermal tumors, medulloblastoma, lymphoma, pituitary adenoma, atypical teratoid/rhabdoid tumor, Langerhans cell histiocytosis, and gliomas.
  • These findings demonstrate that NANOG is a sensitive and specific marker of CNS germinoma.
  • These findings also suggest a potential biologic role for NANOG in maintenance of CNS germinoma.
  • [MeSH-minor] Adolescent. Adult. Alkaline Phosphatase / metabolism. Biomarkers, Tumor / metabolism. Cell Nucleus / metabolism. Child. HMGB Proteins / metabolism. Humans. Isoenzymes / metabolism. Octamer Transcription Factor-3 / metabolism. SOXB1 Transcription Factors. Transcription Factors / metabolism

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  • (PMID = 17122519.001).
  • [ISSN] 0147-5185
  • [Journal-full-title] The American journal of surgical pathology
  • [ISO-abbreviation] Am. J. Surg. Pathol.
  • [Language] eng
  • [Grant] United States / NINDS NIH HHS / NS / NS047213
  • [Publication-type] Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Biomarkers, Tumor; 0 / DNA-Binding Proteins; 0 / HMGB Proteins; 0 / Homeodomain Proteins; 0 / Isoenzymes; 0 / NANOG protein, human; 0 / Octamer Transcription Factor-3; 0 / POU5F1 protein, human; 0 / SOX2 protein, human; 0 / SOXB1 Transcription Factors; 0 / Transcription Factors; 0 / germ-cell AP isoenzyme; EC 3.1.3.1 / Alkaline Phosphatase
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86. 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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  • We found focal or widespread secretagogin expression in tumour cells in 1/18 oligoastrocytomas, 1/19 oligodendrogliomas, 2/20 anaplastic oligodendrogliomas, 2/9 ependymomas, 2/11 anaplastic ependymomas, 2/10 glioblastomas, 3/11 gangliogliomas and 1/2 anaplastic gangliogliomas, 10/10 central neurocytomas, 5/10 classic medulloblastomas, 4/5 desmoplastic medulloblastomas, 3/5 large cell/anaplastic medulloblastomas, 3/5 neuroblastomas, 3/10 meningiomas, 2/10 haemangioblastomas, and 13/19 pituitary adenomas.
  • 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).
  • 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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87. de León-Bojorge B, Rueda-Franco F, Anaya-Jara M: Atypical teratoid/rhabdoid tumor of the central nervous system. Childs Nerv Syst; 2009 Nov;25(11):1387; author reply 1389
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  • [Title] Atypical teratoid/rhabdoid tumor of the central nervous system.
  • [MeSH-major] Central Nervous System Neoplasms / pathology. Rhabdoid Tumor / pathology. Teratoma / pathology

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  • [CommentOn] Childs Nerv Syst. 2009 Jun;25(6):707-11 [19212771.001]
  • [Cites] Childs Nerv Syst. 2008 Mar;24(3):307-12 [17876589.001]
  • [Cites] Childs Nerv Syst. 2009 Jun;25(6):707-11 [19212771.001]
  • (PMID = 19636570.001).
  • [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] Comment; Letter
  • [Publication-country] Germany
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