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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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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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. 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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5. 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] Netherlands
  • [Number-of-references] 37
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6. 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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7. 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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8. 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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9. 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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10. 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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11. 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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  • [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]
  • [Cites] Pediatr Neurosurg. 2006;42(3):187-92 [16636624.001]
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  • (PMID = 19212771.001).
  • [ISSN] 1433-0350
  • [Journal-full-title] Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
  • [ISO-abbreviation] Childs Nerv Syst
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Actins; 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / Desmin; 0 / Glial Fibrillary Acidic Protein; 0 / Mucin-1; 0 / S100 Proteins; 0 / SMARCB1 Protein; 0 / SMARCB1 protein, human; 0 / Synaptophysin; 0 / Transcription Factors; 0 / Vimentin; 68238-35-7 / Keratins
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12. 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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13. 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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14. 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

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  • [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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15. 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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16. 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] Netherlands
  • [Chemical-registry-number] 0 / Myeloablative Agonists
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17. Umredkar A, Bal A, Vashista RK: Atypical teratoid/rhabdoid tumour of the central nervous system in adult: case report. Br J Neurosurg; 2010 Dec;24(6):699-704

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  • [Title] Atypical teratoid/rhabdoid tumour of the central nervous system in adult: case report.
  • Atypical teratoid/rhabdoid tumours (AT/RT) are aggressive neoplasms of the central nervous system occurring mainly in the paediatric population.
  • 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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18. Kao CL, Chiou SH, Ho DM, Chen YJ, Liu RS, Lo CW, Tsai FT, Lin CH, Ku HH, Yu SM, Wong TT: Elevation of plasma and cerebrospinal fluid osteopontin levels in patients with atypical teratoid/rhabdoid tumor. Am J Clin Pathol; 2005 Feb;123(2):297-304
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  • [Title] Elevation of plasma and cerebrospinal fluid osteopontin levels in patients with atypical teratoid/rhabdoid tumor.
  • Osteopontin, a cancer metastasis-associated gene, is specifically up-regulated in central nervous system (CNS) atypical teratoid/rhabdoid tumor (AT/RT), but its biological behavior in the progression of CNS AT/RT has never been studied.
  • 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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19. 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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20. 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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21. Jackson EM, Shaikh TH, Zhang F, Wainwright LM, Storm PB, Hakonarson H, Zackai EH, Biegel JA: Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome. Am J Med Genet A; 2007 Aug 1;143A(15):1767-70
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  • [Title] Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome.
  • Here we describe a patient with BWS who developed a central nervous system atypical teratoid/rhabdoid tumor (AT/RT).
  • Due to the high propensity of these patients to develop childhood tumors, in addition to routine diagnostic tests, analysis of the tumor DNA using the Illumina Infinium whole-genome genotyping 550K Beadchip was performed to investigate a possible common underlying mechanism for his BWS and AT/RT.
  • The only alteration detected was monosomy 22, which was accompanied by a somatic mutation in the INI1 rhabdoid tumor gene.
  • [MeSH-major] Beckwith-Wiedemann Syndrome / genetics. Rhabdoid Tumor / complications. Teratoma / complications

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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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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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  • [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. 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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  • [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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24. 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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25. Kordes U, Gesk S, Frühwald MC, Graf N, Leuschner I, Hasselblatt M, Jeibmann A, Oyen F, Peters O, Pietsch T, Siebert R, Schneppenheim R: Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor. Genes Chromosomes Cancer; 2010 Feb;49(2):176-81
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  • [Title] Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor.
  • The SMARCB1 gene status in 50 patients with atypical teratoid rhabdoid tumor and/or malignant rhabdoid tumor recruited to a German registry was prospectively analyzed with FISH and PCR.
  • Germline mutations were identified in 10 of 41 patients with CNS disease, including three large heterozygous deletions, six truncating mutations and one donor splice site mutation.
  • No germline mutation was found in nine patients without CNS disease.
  • Patients with germline mutation had a lower median age at diagnosis in comparison to those without detectable germline mutation (5.5 vs. 13 months, P = 0.001), a higher rate of primary multicentric CNS disease (5/10 vs. 5/36) and synchronous or metachronous mixed CNS and extracranial disease (4/10 vs. 1/36).
  • [MeSH-major] Chromosomal Proteins, Non-Histone / genetics. DNA-Binding Proteins / genetics. Mutation. Rhabdoid Tumor / genetics. Transcription Factors / genetics

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  • (PMID = 19902524.001).
  • [ISSN] 1098-2264
  • [Journal-full-title] Genes, chromosomes & cancer
  • [ISO-abbreviation] Genes Chromosomes Cancer
  • [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, human; 0 / Transcription Factors
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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] Netherlands
  • [Chemical-registry-number] 0 / Antineoplastic Agents
  • [Number-of-references] 92
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27. Strother D: Atypical teratoid rhabdoid tumors of childhood: diagnosis, treatment and challenges. Expert Rev Anticancer Ther; 2005 Oct;5(5):907-15
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  • [Title] Atypical teratoid rhabdoid tumors of childhood: diagnosis, treatment and challenges.
  • Atypical teratoid rhabdoid tumor of the brain was described as a unique entity in the late 1980s.
  • At presentation, the differential diagnosis includes medulloblastoma, primitive neuroectodermal tumor, ependymoma and choroid plexus carcinoma.
  • Atypical teratoid rhabdoid tumor behaves in a very aggressive manner and while cure is possible for a small minority of patients, no standard or effective therapy has been defined for most patients.
  • Since its first description, considerable pathologic, cytogenetic and molecular characterizations, as described in this review, have been accomplished that provide insight into the possible molecular etiology of the disease and of malignant rhabdoid tumors that occur outside the CNS.
  • Co-operative group clinical trials that focus solely on atypical teratoid rhabdoid tumor are needed that incorporate biologic studies along with evaluations of aggressive treatment approaches.
  • The goal of these trials should be to increase the cure rate for children with atypical teratoid rhabdoid tumor and further increase our understanding not only of atypical teratoid rhabdoid tumor, but also of other pediatric brain tumors.
  • [MeSH-major] Brain Neoplasms / diagnosis. Brain Neoplasms / therapy. Rhabdoid Tumor / diagnosis. Rhabdoid Tumor / therapy. Teratoma / diagnosis. Teratoma / therapy
  • [MeSH-minor] Clinical Trials as Topic. Demography. Diagnosis, Differential. Humans. Immunohistochemistry. Incidence. Infant. Infant, Newborn. Prognosis

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  • (PMID = 16221059.001).
  • [ISSN] 1744-8328
  • [Journal-full-title] Expert review of anticancer therapy
  • [ISO-abbreviation] Expert Rev Anticancer Ther
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] England
  • [Number-of-references] 69
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28. 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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29. 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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30. 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. 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] Netherlands
  • [Chemical-registry-number] 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / SMARCB1 protein, human; 0 / Transcription Factors
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31. 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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32. 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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  • [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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33. 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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34. 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

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  • [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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35. Nishihira Y, Tan CF, Hirato J, Yoshimura J, Nishiyama K, Takahashi H, Fujii Y, Takahashi H: A case of congenital supratentorial tumor: atypical teratoid/rhabdoid tumor or primitive neuroectodermal tumor? Neuropathology; 2007 Dec;27(6):551-5
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  • [Title] A case of congenital supratentorial tumor: atypical teratoid/rhabdoid tumor or primitive neuroectodermal tumor?
  • Two embryonal CNS tumors, atypical teratoid/rabdoid tumor (AT/RT) and primitive neuroectodermal tumor (PNET), may be confused with each other and misdiagnosed.
  • Here we report an infant with a congenital supratentorial tumor, which was detected by fetal MRI at 37 weeks gestation.
  • On routine histological examination, the tumor was composed mainly of small undifferentiated cells, among which many rhabdoid cells and occasional sickle-shaped embracing cells were observed.
  • Our impression was that the tumor was an atypical example of AT/RT.
  • Immunohistochemically, almost all the tumor cells were strongly positive for vimentin.
  • However, epithelial membrane antigen was notably negative, and most of the tumor cell nuclei were clearly positive for INI1.
  • In addition, many tumor cells were positive for neurofilament protein.
  • There were also occasional small areas containing many tumor cells positive for glial fibrillary acidic protein.
  • Finally, a diagnosis of PNET, with a rhabdoid phenotype and expression of neuronal and glial markers, was made.
  • [MeSH-minor] Biomarkers, Tumor / analysis. Diagnosis, Differential. Female. Humans. Immunohistochemistry. Infant, Newborn. Pregnancy. Prenatal Diagnosis. Rhabdoid Tumor / congenital. Rhabdoid Tumor / metabolism. Rhabdoid Tumor / pathology

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  • [ErratumIn] Neuropathology. 2008 Feb;28(1):108
  • (PMID = 18021375.001).
  • [ISSN] 0919-6544
  • [Journal-full-title] Neuropathology : official journal of the Japanese Society of Neuropathology
  • [ISO-abbreviation] Neuropathology
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Australia
  • [Chemical-registry-number] 0 / Biomarkers, Tumor; 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / SMARCB1 protein, human; 0 / Transcription Factors
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36. 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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37. Mühlisch J, Schwering A, Grotzer M, Vince GH, Roggendorf W, Hagemann C, Sörensen N, Rickert CH, Osada N, Jürgens H, Frühwald MC: Epigenetic repression of RASSF1A but not CASP8 in supratentorial PNET (sPNET) and atypical teratoid/rhabdoid tumors (AT/RT) of childhood. Oncogene; 2006 Feb 16;25(7):1111-7
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  • [Title] Epigenetic repression of RASSF1A but not CASP8 in supratentorial PNET (sPNET) and atypical teratoid/rhabdoid tumors (AT/RT) of childhood.
  • Supratentorial primitive neuroectodermal tumors (sPNET) and atypical teratoid/rhabdoid tumors (AT/RT) of the CNS represent a biological and clinical enigma, despite advances in both molecular techniques and clinical management for these two rare embryonal brain tumors of childhood.
  • Treatment of cell lines using 5-Aza-2'-deoxycytidine (5AZA) alone or in combination with trichostatin A (TSA) succeeded in re-establishing expression of RASSF1A in cell lines derived from a renal rhabdoid, an AT/RT and a medulloblastoma.
  • However, CASP8 showed inconsistent expression patterns in normal and tumor tissues.
  • [MeSH-major] Brain Neoplasms / genetics. DNA Methylation. Gene Silencing. Neuroectodermal Tumors, Primitive / genetics. Rhabdoid Tumor / genetics. Teratoma / genetics. Tumor Suppressor Proteins / genetics

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  • (PMID = 16186793.001).
  • [ISSN] 0950-9232
  • [Journal-full-title] Oncogene
  • [ISO-abbreviation] Oncogene
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Hydroxamic Acids; 0 / RASSF1 protein, human; 0 / Tumor Suppressor Proteins; 3X2S926L3Z / trichostatin A; 776B62CQ27 / decitabine; EC 3.4.22.- / CASP8 protein, human; EC 3.4.22.- / Caspase 8; EC 3.4.22.- / Caspases; M801H13NRU / Azacitidine
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38. Warmuth-Metz M, Bison B, Dannemann-Stern E, Kortmann R, Rutkowski S, Pietsch T: CT and MR imaging in atypical teratoid/rhabdoid tumors of the central nervous system. Neuroradiology; 2008 May;50(5):447-52
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  • [Title] CT and MR imaging in atypical teratoid/rhabdoid tumors of the central nervous system.
  • INTRODUCTION: Atypical teratoid/rhabdoid tumors (ATRT) are rare aggressive neoplasms of the CNS affecting predominantly very young children.
  • 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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  • [Cites] J Clin Oncol. 2004 Jul 15;22(14):2877-84 [15254056.001]
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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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39. 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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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

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  • (PMID = 17446062.001).
  • [ISSN] 0959-8049
  • [Journal-full-title] European journal of cancer (Oxford, England : 1990)
  • [ISO-abbreviation] Eur. J. Cancer
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Antineoplastic Agents; 0 / Oligoribonucleotides, Antisense; 67763-96-6 / Insulin-Like Growth Factor I; 80168379AG / Doxorubicin; EC 2.7.10.1 / Receptor, IGF Type 1; Q20Q21Q62J / Cisplatin
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41. Fouladi M, Blaney SM, Poussaint TY, Freeman BB 3rd, McLendon R, Fuller C, Adesina AM, Hancock ML, Danks MK, Stewart C, Boyett JM, Gajjar A: Phase II study of oxaliplatin in children with recurrent or refractory medulloblastoma, supratentorial primitive neuroectodermal tumors, and atypical teratoid rhabdoid tumors: a pediatric brain tumor consortium study. Cancer; 2006 Nov 1;107(9):2291-7
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  • [Title] Phase II study of oxaliplatin in children with recurrent or refractory medulloblastoma, supratentorial primitive neuroectodermal tumors, and atypical teratoid rhabdoid tumors: a pediatric brain tumor consortium study.
  • BACKGROUND: An open-label Phase II study of oxaliplatin was conducted to evaluate its safety and efficacy in children with recurrent or refractory medulloblastoma (MB), supratentorial primitive neuroectodermal tumors (SPNET), and atypical teratoid rhabdoid tumor (ATRT).
  • CONCLUSIONS: Oxaliplatin was well tolerated in children but has limited activity in children with recurrent CNS embryonal tumors previously treated with platinum compounds.
  • [MeSH-major] Medulloblastoma / drug therapy. Neoplasm Recurrence, Local / drug therapy. Neuroectodermal Tumors, Primitive / drug therapy. Organoplatinum Compounds / therapeutic use. Rhabdoid Tumor / drug therapy. Supratentorial Neoplasms / drug therapy. Teratoma / drug therapy


42. 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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  • [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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43. 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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  • [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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44. 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


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

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  • (PMID = 20118769.001).
  • [ISSN] 1532-0979
  • [Journal-full-title] The American journal of surgical pathology
  • [ISO-abbreviation] Am. J. Surg. Pathol.
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Biomarkers, Tumor; 0 / Chromosomal Proteins, Non-Histone; 0 / Claudins; 0 / DNA-Binding Proteins; 0 / Membrane Proteins; 0 / SMARCB1 protein, human; 0 / Transcription Factors; 0 / claudin 6
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46. 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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47. Pfister SM, Korshunov A, Kool M, Hasselblatt M, Eberhart C, Taylor MD: Molecular diagnostics of CNS embryonal tumors. Acta Neuropathol; 2010 Nov;120(5):553-66
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  • [Title] Molecular diagnostics of CNS embryonal tumors.
  • Two or more additional subgroups were consistently reported to contain the vast majority of high-risk tumors, including most tumors with metastatic disease at diagnosis and/or large cell/anaplastic histology.
  • Several years ago, atypical teratoid rhabdoid tumor (AT/RT) was recognized as a separate entity based on its distinct biology and particularly aggressive clinical behavior.
  • These tumors may occur supra or infratentorially and are usually found to have genetic alterations of SMARCB1 (INI1/hSNF5), a tumor suppressor gene located on chromosome 22q.
  • For CNS primitive neuroectodermal tumors (CNS PNETs), a consistent finding has been that they are molecularly distinct from medulloblastoma.
  • Furthermore, a distinct fraction of CNS PNETs with particularly poor prognosis only occurring in young children was delineated, which was previously labeled ependymoblastoma or embryonal tumor with abundant neuropil and true rosettes (ETANTR) and which is morphologically characterized by the presence of multilayered "ependymoblastic" rosettes.
  • This group of tumors shows a unique cytogenetic abnormality not seen in other brain tumors: focal amplification of a micro-RNA cluster at chromosome 19q13.42, which has never been found to be amplified in other CNS PNETs, medulloblastoma or AT/RT.
  • [MeSH-major] Brain Neoplasms / diagnosis. Neoplasms, Germ Cell and Embryonal / diagnosis. Pathology, Molecular / methods

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  • (PMID = 20882288.001).
  • [ISSN] 1432-0533
  • [Journal-full-title] Acta neuropathologica
  • [ISO-abbreviation] Acta Neuropathol.
  • [Language] eng
  • [Grant] United States / NINDS NIH HHS / NS / R01 NS055089
  • [Publication-type] Journal Article; Review
  • [Publication-country] Germany
  • [Other-IDs] NLM/ NIHMS376305; NLM/ PMC4512653
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48. 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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49. 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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  • [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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50. 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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51. 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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52. 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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  • [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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53. Shih CS, Hale GA, Gronewold L, Tong X, Laningham FH, Gilger EA, Srivastava DK, Kun LE, Gajjar A, Fouladi M: High-dose chemotherapy with autologous stem cell rescue for children with recurrent malignant brain tumors. Cancer; 2008 Mar 15;112(6):1345-53
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  • [Title] High-dose chemotherapy with autologous stem cell rescue for children with recurrent malignant brain tumors.
  • 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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54. 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
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55. 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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56. 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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  • (PMID = 16645723.001).
  • [ISSN] 0167-594X
  • [Journal-full-title] Journal of neuro-oncology
  • [ISO-abbreviation] J. Neurooncol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Netherlands
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57. Lassaletta A, Lopez-Ibor B, Mateos E, Gonzalez-Vicent M, Perez-Martinez A, Sevilla J, Diaz MA, Madero L: Intrathecal liposomal cytarabine in children under 4 years with malignant brain tumors. J Neurooncol; 2009 Oct;95(1):65-69
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  • [Title] Intrathecal liposomal cytarabine in children under 4 years with malignant brain tumors.
  • Infants and very young children with malignant brain tumors usually have unfavourable locations and are not candidates for craniospinal irradiation.
  • The primary goal of the present study was to report on the safety profile and toxicity of intrathecal administration of liposomal cytarabine in children <4 years with malignant brain tumors.
  • The diagnoses were ependymoma (3), peripheral neuroectodermic tumor (PNET) (2), meduloblastoma, atypical teratoid rhabdoid tumor (ATRT), cerebral lymphoma, and rhabdomyosarcoma with CNS invasion.
  • This study demonstrates the feasibility of using intrathecal liposomal cytarabine in children under 4 years of age with malignant brain tumors.

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  • (PMID = 19381444.001).
  • [ISSN] 1573-7373
  • [Journal-full-title] Journal of neuro-oncology
  • [ISO-abbreviation] J. Neurooncol.
  • [Language] eng
  • [Publication-type] Clinical Trial; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antimetabolites, Antineoplastic; 0 / Phospholipids; 0 / liposom; 04079A1RDZ / Cytarabine
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58. 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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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. Judkins AR, Ellison DW: Ependymoblastoma: dear, damned, distracting diagnosis, farewell!*. Brain Pathol; 2010 Jan;20(1):133-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [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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61. 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
Genetic Alliance. consumer health - Rhabdoid tumor.

  • [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.
  • [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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