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1. Parwani AV, Stelow EB, Pambuccian SE, Burger PC, Ali SZ: Atypical teratoid/rhabdoid tumor of the brain: cytopathologic characteristics and differential diagnosis. Cancer; 2005 Apr 25;105(2):65-70
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  • [Title] Atypical teratoid/rhabdoid tumor of the brain: cytopathologic characteristics and differential diagnosis.
  • BACKGROUND: Atypical teratoid/rhabdoid tumor (AT/RT) is a highly aggressive neoplasm with a unique cytogenetic profile.
  • Although the clinicopathologic and radiologic features of AT/RT have been described previously, to the authors' knowledge the cytomorphologic profile of this tumor has not been studied well.
  • Cytomorphologic features consisted of hypercellularity (eight of eight tumors); predominantly large tissue fragments with tumor cells surrounding proliferating capillaries depicting a "papillary-like" appearance (five of eight tumors); large, round, "plasmacytoid" cells and characteristic "rhabdoid" cells (i.e., intermediate-sized cells with granular to fibrillary, brightly eosinophilic cytoplasm with or without globoid "inclusions"; large, eccentrically located, round-to-reniform nuclei with single prominent nucleoli; eight of eight tumors); small, round, primitive "neuronal-appearing" cells with a high nuclear to cytoplasmic ratio (five of eight patients); and bizarre, multinucleated giant cells (two of eight tumors).
  • Cytomorphologic features are unique and lead to an accurate diagnosis in the right clinicoradiologic context.
  • The differential diagnosis includes medulloblastoma (in cerebellar tumors), primitive neuroectodermal tumor (in suprasellar tumors), choroid plexus carcinoma, and malignant glioma.
  • [MeSH-major] Brain Neoplasms / pathology. Rhabdoid Tumor / pathology
  • [MeSH-minor] Adolescent. Child, Preschool. Diagnosis, Differential. Female. Glioma / pathology. Humans. Infant. Male. Medulloblastoma / pathology. Neuroectodermal Tumors, Primitive. Retrospective Studies


2. 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.
  • There was inadequate response to the antituberculosis therapy; so we performed stereotactic brain biopsy.
  • 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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3. Allen JC, Judkins AR, Rosenblum MK, Biegel JA: Atypical teratoid/rhabdoid tumor evolving from an optic pathway ganglioglioma: case study. Neuro Oncol; 2006 Jan;8(1):79-82
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  • [Title] Atypical teratoid/rhabdoid tumor evolving from an optic pathway ganglioglioma: case study.
  • We report an atypical teratoid/rhabdoid tumor arising in a ganglioglioma from an 11-year-old male who had been treated over a nine-year period.
  • A combined histologic, immunohistochemical, and molecular genetic analysis confirmed this diagnosis.
  • Molecular genetic studies demonstrated a mutation in exon 9 of the INI1 gene in the tumor, which was not present in the patient's blood.
  • This report is the first to describe progression of a ganglioglioma to atypical teratoid/rhabdoid tumor.

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  • (PMID = 16443951.001).
  • [ISSN] 1522-8517
  • [Journal-full-title] Neuro-oncology
  • [ISO-abbreviation] Neuro-oncology
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / R01 CA046274; United States / NCI NIH HHS / CA / CA46274
  • [Publication-type] Case Reports; Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / SMARCB1 protein, human; 0 / Transcription Factors
  • [Other-IDs] NLM/ PMC1871926
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4. 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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5. Tez S, Köktener A, Güler G, Ozişik P: Atypical teratoid/rhabdoid tumors: imaging findings of two cases and review of the literature. Turk Neurosurg; 2008 Jan;18(1):30-4
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  • [Title] Atypical teratoid/rhabdoid tumors: imaging findings of two cases and review of the literature.
  • Atypical teratoid/rhabdoid tumor (AT/RT) is a malignant embryonal central nervous system (CNS) tumor, manifesting in children, and composed of rhabdoid cells, with or without fields resembling a classical primitive neuroectodermal tumor (PNET), epithelial tissue and neoplastic mesenchyme.
  • Although the clinical and pathological findings have been defined in large series previously, and AT/RT has become increasingly recognized, awareness of typical AT/RT is important in making the correct diagnosis of this uncommon but probably underdiagnosed entity.
  • Neuroradiologists rarely mention AT/RT in their differential diagnosis and this paper presents two additional cases in which clinical and pathological findings are combined with neuroradiological presentation.
  • [MeSH-major] Brain Neoplasms / pathology. Magnetic Resonance Imaging. Rhabdoid Tumor / pathology. Teratoma / pathology
  • [MeSH-minor] Child. Diagnosis, Differential. Fatal Outcome. Female. Humans. Infant. Male. Tomography, X-Ray Computed

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

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  • (PMID = 19484251.001).
  • [ISSN] 1433-0350
  • [Journal-full-title] Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
  • [ISO-abbreviation] Childs Nerv Syst
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Review
  • [Publication-country] Germany
  • [Number-of-references] 30
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7. Stabouli S, Sdougka M, Tsitspoulos P, Violaki A, Anagnostopoulos I, Tsonidis Ch, Koliouskas D: Primary atypical teratoid/rhabdoid tumor of the spine in an infant. Hippokratia; 2010 Oct;14(4):286-8
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  • [Title] Primary atypical teratoid/rhabdoid tumor of the spine in an infant.
  • Atypical teratoid/rhabdoid tumor of the spine is a rare pediatric neoplasm with poor prognosis.
  • We report a case of an atypical teratoid/rhabdoid tumor of the cervical spine in a 2-months-old infant.
  • Tumor cells were immunohistochemically positive for epithelial membrane antigen, vimentin, cytokeratins, S-100 protein, and CD57/Leu-7 antigen.
  • Despite chemotherapy, the infant presented with progressive neurological deterioration and died 6 months after initial diagnosis.
  • We review the literature on spinal malignant rhabdoid tumor and discuss the pathology, treatment, and outcome of these rare neoplasms.

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  • (PMID = 21311641.001).
  • [ISSN] 1790-8019
  • [Journal-full-title] Hippokratia
  • [ISO-abbreviation] Hippokratia
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Greece
  • [Other-IDs] NLM/ PMC3031327
  • [Keywords] NOTNLM ; atypical teratoid tumor / chemotherapy / chromosome 22q / hydrocephalous / rhabdoid tumor / spine
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8. Raisanen J, Biegel JA, Hatanpaa KJ, Judkins A, White CL, Perry A: Chromosome 22q deletions in atypical teratoid/rhabdoid tumors in adults. Brain Pathol; 2005 Jan;15(1):23-8
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  • [Title] Chromosome 22q deletions in atypical teratoid/rhabdoid tumors in adults.
  • Atypical teratoid/rhabdoid tumors (AT/RTs) are rare, malignant brain tumors that usually occur in the posterior fossa.
  • Both AT/RT and the analogous tumor outside the brain, malignant rhabdoid tumor, share a polyphenotypic immunoprofile and frequent 22q deletions with inactivation of the IN11/hSNF5 gene.
  • The rarity of the tumor and the polyphenotypic immunoprofile, characterized by antigen expression that is often patchy, make diagnosis in adults difficult and controversial.
  • Although rare, AT/RT should be considered in the differential diagnosis of poorly differentiated intracranial tumors in adults.
  • [MeSH-major] Brain Neoplasms / genetics. Chromosome Deletion. Chromosomes, Human, Pair 22 / genetics. Rhabdoid Tumor / genetics. Teratoma / genetics
  • [MeSH-minor] Adult. Base Sequence. Chromosomal Proteins, Non-Histone. DNA-Binding Proteins / biosynthesis. Diagnosis, Differential. Female. Humans. Immunohistochemistry. In Situ Hybridization, Fluorescence. Male. Middle Aged. Transcription Factors

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  • (PMID = 15779233.001).
  • [ISSN] 1015-6305
  • [Journal-full-title] Brain pathology (Zurich, Switzerland)
  • [ISO-abbreviation] Brain Pathol.
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / CA46274
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
  • [Publication-country] Switzerland
  • [Chemical-registry-number] 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / SMARCB1 protein, human; 0 / Transcription Factors
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9. Koral K, Gargan L, Bowers DC, Gimi B, Timmons CF, Weprin B, Rollins NK: Imaging characteristics of atypical teratoid-rhabdoid tumor in children compared with medulloblastoma. AJR Am J Roentgenol; 2008 Mar;190(3):809-14
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  • [Title] Imaging characteristics of atypical teratoid-rhabdoid tumor in children compared with medulloblastoma.
  • OBJECTIVE: The purpose of our study was to compare the imaging characteristics of atypical teratoid-rhabdoid tumor with medulloblastoma and seek distinguishing features that can aid in preoperative diagnosis.
  • MATERIALS AND METHODS: Preoperative MRI examinations of 55 patients (36 medulloblastomas and 19 atypical teratoid-rhabdoid tumors) were analyzed retrospectively.
  • Imaging characteristics of atypical teratoid-rhabdoid tumor and medulloblastoma were assessed with conventional MRI and CT.
  • Diffusion-weighted imaging (DWI) was available in 27 patients (19 medulloblastomas and eight atypical teratoid-rhabdoid tumors).
  • Apparent diffusion coefficient (ADC) values were calculated for 14 medulloblastomas and six atypical teratoid-rhabdoid tumors.
  • RESULTS: Both atypical teratoid-rhabdoid tumors in general and infratentorial atypical teratoid-rhabdoid tumors presented at a younger age than medulloblastomas.
  • Eleven of 19 atypical teratoid-rhabdoid tumors were infratentorial.
  • Cerebellopontine angle (CPA) involvement was more frequent (8/11, 72.7%) in atypical teratoid-rhabdoid tumor than in medulloblastoma (4/36, 11.1%) (p < 0.001).
  • Intratumoral hemorrhage was more common in atypical teratoid-rhabdoid tumor (9/19, 47.4%) than in medulloblastoma (2/36, 5.6%) (p < 0.0001).
  • All atypical teratoid-rhabdoid tumors and all medulloblastomas for which DWI was available displayed increased signal intensity on DWI compared with normal brain parenchyma.
  • The mean ADC values for tumor types were not significantly different.
  • CONCLUSION: Atypical teratoid-rhabdoid tumor presents at a younger age than medulloblastoma.
  • Although atypical teratoid-rhabdoid tumor and medulloblastoma display similar imaging characteristics on conventional MRI, CPA involvement and intratumoral hemorrhage are more common in atypical teratoid-rhabdoid tumor.
  • If a pediatric posterior fossa mass that displays restricted diffusion is involving the CPA, atypical teratoid-rhabdoid tumor is a more likely consideration than medulloblastoma.
  • [MeSH-major] Cerebellar Neoplasms / diagnosis. Magnetic Resonance Imaging. Medulloblastoma / diagnosis. Rhabdoid Tumor / diagnosis. Teratoma / diagnosis. Tomography, X-Ray Computed
  • [MeSH-minor] Child. Child, Preschool. Cohort Studies. Diagnosis, Differential. Female. Humans. Infant. Infant, Newborn. Male. Retrospective Studies


10. Parmar H, Hawkins C, Bouffet E, Rutka J, Shroff M: Imaging findings in primary intracranial atypical teratoid/rhabdoid tumors. Pediatr Radiol; 2006 Feb;36(2):126-32
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  • [Title] Imaging findings in primary intracranial atypical teratoid/rhabdoid tumors.
  • BACKGROUND: Intracranial atypical teratoid/rhabdoid tumors (AT/RT) are rare and extremely aggressive neoplasms seen primarily in childhood.
  • However, correct diagnosis of AT/RT is important because these tumors have a markedly different clinical prognosis and require more aggressive therapy.
  • There was also a high tendency for subarachnoid dissemination, with five patients (46%) demonstrating brain and/or spinal metastasis.
  • But a high tendency toward large size, a hyperdense solid component on CT scan with calcification, hemorrhage, necrosis and subarachnoid spread suggest that this tumor should be considered in the differential diagnosis of large pediatric intracranial tumors.
  • [MeSH-major] Magnetic Resonance Imaging. Neuroectodermal Tumors, Primitive / diagnosis. Rhabdoid Tumor / diagnosis. Skull / pathology. Teratoma / diagnosis. Tomography, X-Ray Computed
  • [MeSH-minor] Adolescent. Child. Child, Preschool. Diagnosis, Differential. Female. Humans. Infant. Infant, Newborn. Male. Retrospective Studies

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  • (PMID = 16341528.001).
  • [ISSN] 0301-0449
  • [Journal-full-title] Pediatric radiology
  • [ISO-abbreviation] Pediatr Radiol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Germany
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11. Sasaki A, Kurihara H, Ishiuchi S, Hirato J, Saito N, Nakazato Y: Pediatric embryonal tumor of the cerebellum with rhabdoid cells and novel intracytoplasmic inclusions: distinction from atypical teratoid/rhabdoid tumor. Acta Neuropathol; 2005 Jul;110(1):69-76
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  • [Title] Pediatric embryonal tumor of the cerebellum with rhabdoid cells and novel intracytoplasmic inclusions: distinction from atypical teratoid/rhabdoid tumor.
  • We report a case of embryonal tumor with novel inclusion bodies occurring in the cerebellum of a 12-year-old girl.
  • The tumor was histopathologically composed of small undifferentiated cells intermingled with a small number of rhabdoid cells, which had an ultrastructural feature of intermediate filament whorls.
  • In conclusion, this tumor was differentiated from atypical teratoid/rhabdoid tumor by the absence of EMA and the presence of INI1 mRNA and protein, and diagnosed as an unclassified, embryonal tumor.
  • Eosinophilic, granulovesicular inclusions of the tumor cells are novel cytoplasmic inclusions in the brain tumor.
  • [MeSH-minor] Biomarkers, Tumor / analysis. Child. Chromosomal Proteins, Non-Histone. DNA-Binding Proteins / genetics. DNA-Binding Proteins / metabolism. Diagnosis, Differential. Female. Humans. Immunohistochemistry. Magnetic Resonance Imaging. Microscopy, Electron, Transmission. Mucin-1 / metabolism. Neoplasm Recurrence, Local / metabolism. Neoplasm Recurrence, Local / pathology. RNA, Messenger / analysis. Reverse Transcriptase Polymerase Chain Reaction. Rhabdoid Tumor / pathology. Teratoma / pathology. Transcription Factors

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  • (PMID = 15965700.001).
  • [ISSN] 0001-6322
  • [Journal-full-title] Acta neuropathologica
  • [ISO-abbreviation] Acta Neuropathol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Biomarkers, Tumor; 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / Mucin-1; 0 / RNA, Messenger; 0 / SMARCB1 protein, human; 0 / Transcription Factors
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12. 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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13. Beschorner R, Mittelbronn M, Koerbel A, Ernemann U, Thal DR, Scheel-Walter HG, Meyermann R, Tatagiba M: Atypical teratoid-rhabdoid tumor spreading along the trigeminal nerve. Pediatr Neurosurg; 2006;42(4):258-63
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  • [Title] Atypical teratoid-rhabdoid tumor spreading along the trigeminal nerve.
  • We here describe the case of a boy with an atypical teratoid-rhabdoid tumor (ATRT) of the 4th ventricle at 1 year of age and a local tumor recurrence at 19 months of age.
  • Due to brainstem infiltration, only incomplete tumor resection was possible each time.
  • High-dose chemotherapy, stem cell transplantation and irradiation resulted in complete tumor remission on a control MRI.
  • At 8 years of age, another tumor appeared extending from the cerebellopontine angle along the right trigeminal nerve through Meckel's cave into the cavernous sinus.
  • The trigeminal tumor was not in continuity with the primary ATRT but was located within the field of prior irradiation, neuroradiologically mimicking a schwannoma or a meningioma.
  • The origin of the trigeminal tumor as a late metastasis of the former ATRT or as a less likely irradiation-induced secondary ATRT and the operative approach are discussed.
  • [MeSH-major] Brain Neoplasms / diagnosis. Cranial Nerve Neoplasms / diagnosis. Rhabdoid Tumor / diagnosis. Teratoma / diagnosis. Trigeminal Nerve Diseases / diagnosis

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  • [Copyright] Copyright (c) 2006 S. Karger AG, Basel.
  • (PMID = 16714870.001).
  • [ISSN] 1016-2291
  • [Journal-full-title] Pediatric neurosurgery
  • [ISO-abbreviation] Pediatr Neurosurg
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Switzerland
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14. Makuria AT, Rushing EJ, McGrail KM, Hartmann DP, Azumi N, Ozdemirli M: Atypical teratoid rhabdoid tumor (AT/RT) in adults: review of four cases. J Neurooncol; 2008 Jul;88(3):321-30
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  • [Title] Atypical teratoid rhabdoid tumor (AT/RT) in adults: review of four cases.
  • Atypical teratoid/rhabdoid (AT/RT) tumor is a rare, highly malignant tumor of the central nervous system (CNS) most commonly found in children less than 5 years of age.
  • In many instances, a reliable diagnosis is not possible without demonstrating the lack of nuclear INI1 protein expression by immunohistochemical methods.
  • In all cases, diagnosis during intraoperative consultation and preliminary diagnosis was different from the final diagnosis after immunohistochemical analysis.
  • Immunohistochemical staining showed that the tumor cells were positive for vimentin and reacted variably for keratin, epithelial membrane antigen (EMA), synaptophysin, neurofilament protein, CD34, and smooth muscle actin (SMA).
  • One patient is alive with no evidence of disease 17 years after the diagnosis.
  • In adult examples of AT/RT, the diagnosis requires a high index of suspicion, with early tissue diagnosis and a low threshold for investigation with INI1 immunohistochemistry to differentiate this entity from other morphologically similar tumors.
  • [MeSH-major] Brain Neoplasms / metabolism. Brain Neoplasms / pathology. Rhabdoid Tumor / metabolism. Rhabdoid Tumor / pathology
  • [MeSH-minor] Adult. Chromosomal Proteins, Non-Histone / metabolism. DNA-Binding Proteins / metabolism. Diagnosis, Differential. Female. Humans. Immunohistochemistry. Male. SMARCB1 Protein. Transcription Factors / metabolism

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  • (PMID = 18369529.001).
  • [ISSN] 0167-594X
  • [Journal-full-title] Journal of neuro-oncology
  • [ISO-abbreviation] J. Neurooncol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / SMARCB1 Protein; 0 / SMARCB1 protein, human; 0 / Transcription Factors
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15. Fujisawa H, Misaki K, Takabatake Y, Hasegawa M, Yamashita J: Cyclin D1 is overexpressed in atypical teratoid/rhabdoid tumor with hSNF5/INI1 gene inactivation. J Neurooncol; 2005 Jun;73(2):117-24
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  • [Title] Cyclin D1 is overexpressed in atypical teratoid/rhabdoid tumor with hSNF5/INI1 gene inactivation.
  • OBJECT: Although atypical teratoid/rhabdoid tumor (AT/RT) is known to generate through inactivation of the hSNF5/INI1 gene on chromosome 22q, the downstream molecular mechanism remains unclear.
  • We histologically and molecularly reviewed our pediatric brain tumors for unrecognized AT/RTs and evaluated the role of cyclin D1, a potential molecular target of hSNF5/INI1.
  • Because of the presence of rhabdoid cells and the polyimmunophenotypic features, the diagnosis was revised to AT/RT in five (31%) tumors, namely, two E IIIs and one each of medulloblastoma, CPC and pineoblastoma.
  • [MeSH-major] Central Nervous System Neoplasms / genetics. Chromosomes, Human, Pair 22 / genetics. Cyclin D1 / metabolism. DNA-Binding Proteins / genetics. Rhabdoid Tumor / genetics. Teratoma / genetics. Transcription Factors / genetics

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  • (PMID = 15981100.001).
  • [ISSN] 0167-594X
  • [Journal-full-title] Journal of neuro-oncology
  • [ISO-abbreviation] J. Neurooncol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / SMARCB1 Protein; 0 / SMARCB1 protein, human; 0 / Transcription Factors; 136601-57-5 / Cyclin D1
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16. Arita K, Sugiyama K, Sano T, Oka H: Atypical teratoid/rhabdoid tumour in sella turcica in an adult. Acta Neurochir (Wien); 2008 May;150(5):491-5; discussion 496

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Atypical teratoid/rhabdoid tumour in sella turcica in an adult.
  • Although atypical teratoid rhabdoid tumours preferentially arise in the posterior fossa of infants, we encountered a 56 year old woman with an atypical teratoid rhabdoid tumour located in the sella.
  • Microscopically, the tumour was composed of cells with rhabdoid features; we observed atypia, eccentric nuclei, and intracytoplasmic inclusion bodies.
  • Despite extended local brain and whole-spine irradiation she died of neural axis dissemination.
  • [MeSH-major] Rhabdoid Tumor / diagnosis. Rhabdoid Tumor / therapy. Sella Turcica. Skull Neoplasms / diagnosis. Skull Neoplasms / therapy
  • [MeSH-minor] Diagnosis, Differential. Female. Humans. Leg. Magnetic Resonance Imaging. Middle Aged. Neurosurgical Procedures. Pain / etiology. Radiosurgery

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  • (PMID = 18309453.001).
  • [ISSN] 0942-0940
  • [Journal-full-title] Acta neurochirurgica
  • [ISO-abbreviation] Acta Neurochir (Wien)
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Austria
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17. Chiou SH, Kao CL, Chen YW, Chien CS, Hung SC, Lo JF, Chen YJ, Ku HH, Hsu MT, Wong TT: Identification of CD133-positive radioresistant cells in atypical teratoid/rhabdoid tumor. PLoS One; 2008;3(5):e2090
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  • [Title] Identification of CD133-positive radioresistant cells in atypical teratoid/rhabdoid tumor.
  • Atypical teratoid/rhabdoid tumor (AT/RT) is an extremely malignant neoplasm in the central nervous system (CNS) which occurs in infancy and childhood.
  • Recent studies suggested that CD133 could be considered a marker for brain cancer stem-like cells (CSCs).
  • [MeSH-major] Antigens, CD / immunology. Glycoproteins / immunology. Peptides / immunology. Radiation Tolerance. Rhabdoid Tumor / diagnosis

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  • (PMID = 18509505.001).
  • [ISSN] 1932-6203
  • [Journal-full-title] PloS one
  • [ISO-abbreviation] PLoS ONE
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / AC133 antigen; 0 / Antigens, CD; 0 / Glycoproteins; 0 / Peptides; 0 / Proto-Oncogene Proteins c-bcl-2; 0 / RNA, Small Interfering
  • [Other-IDs] NLM/ PMC2396792
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18. 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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19. Takei H, Adesina AM, Mehta V, Powell SZ, Langford LA: Atypical teratoid/rhabdoid tumor of the pineal region in an adult. J Neurosurg; 2010 Aug;113(2):374-9
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  • [Title] Atypical teratoid/rhabdoid tumor of the pineal region in an adult.
  • An atypical teratoid/rhabdoid tumor (AT/RT) is a highly malignant embryonal tumor most often occurring in the posterior fossa in children younger than 3 years of age.
  • Adult cases of AT/RT are very rare, and 27 cases with a diagnosis of either AT/RT or (malignant) rhabdoid tumor have been reported to date.
  • She underwent a subtotal resection of the tumor and was then treated with chemoradiation.
  • Histological sections showed epithelioid cellular sheets of rhabdoid tumor cells with scattered mitotic figures.
  • Immunohistochemically, the tumor cells were diffusely and strongly positive for epithelial membrane antigen and vimentin, and showed focal expression of glial fibrillary acidic protein, pancytokeratin, and neurofilament protein.
  • Histologically, this tumor consisted exclusively of epithelioid tumor cells with rhabdoid features.
  • The differential diagnoses include rhabdoid glioblastoma, metastatic carcinoma, and rhabdoid meningioma.
  • Molecular testing to identify monosomy 22 or deletions of the chromosome 22q11 containing the INI1/hSNF5 gene and/or immunohistochemical staining with INI1 antibody is of great importance for the diagnosis of this tumor.
  • [MeSH-major] Brain Neoplasms / pathology. Pinealoma / pathology. Rhabdoid Tumor / pathology. Teratoma / pathology

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  • (PMID = 19911885.001).
  • [ISSN] 1933-0693
  • [Journal-full-title] Journal of neurosurgery
  • [ISO-abbreviation] J. Neurosurg.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / SMARCB1 protein, human; 0 / Transcription Factors
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20. 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]
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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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21. Umredkar A, Bal A, Vashista RK: Atypical teratoid/rhabdoid tumour of the central nervous system in adult: case report. Br J Neurosurg; 2010 Dec;24(6):699-704

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Atypical teratoid/rhabdoid tumour of the central nervous system in adult: case report.
  • Atypical teratoid/rhabdoid tumours (AT/RT) are aggressive neoplasms of the central nervous system occurring mainly in the paediatric population.
  • 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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22. 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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23. Las Heras F, Pritzker KP: Adult variant of atypical teratoid/rhabdoid tumor: immunohistochemical and ultrastructural confirmation of a rare tumor in the sella tursica. Pathol Res Pract; 2010 Nov 15;206(11):788-91
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  • [Title] Adult variant of atypical teratoid/rhabdoid tumor: immunohistochemical and ultrastructural confirmation of a rare tumor in the sella tursica.
  • Atypical teratoid/rhabdoid tumor (AT/RT) is a distinctive neoplasm of young children characterized by diverse histology and fatal course.
  • INI1 protein expression was immunohistochemically determined on tumor tissue.
  • The tumor was composed of large atypical "rhabdoid" cells having macronucleoli and abundant eosinophilic cytoplasm.
  • Immunohistochemistry showed that the tumor cells were positive for vimentin, CD34, CD99, and reacted variably for keratin, synaptophysin, NSE, and SMA.
  • The tumor cells lacked nuclear expression of INI1.
  • AT/RT should be considered when dealing with a malignant neoplasm with rhabdoid features, regardless of age.
  • Lack of nuclear INI1 protein expression by immunohistochemical methods is required for a reliable diagnosis.
  • [MeSH-major] Brain Neoplasms / pathology. Rare Diseases. Rhabdoid Tumor / pathology. Sella Turcica / pathology. Teratoma / pathology
  • [MeSH-minor] Biomarkers, Tumor / metabolism. Carcinosarcoma / diagnosis. Diagnosis, Differential. Female. Humans. Middle Aged. Neuroectodermal Tumors, Primitive / diagnosis

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  • [Copyright] Copyright © 2010 Elsevier GmbH. All rights reserved.
  • (PMID = 20705400.001).
  • [ISSN] 1618-0631
  • [Journal-full-title] Pathology, research and practice
  • [ISO-abbreviation] Pathol. Res. Pract.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Biomarkers, Tumor
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24. Chi SN, Zimmerman MA, Yao X, Cohen KJ, Burger P, Biegel JA, Rorke-Adams LB, Fisher MJ, Janss A, Mazewski C, Goldman S, Manley PE, Bowers DC, Bendel A, Rubin J, Turner CD, Marcus KJ, Goumnerova L, Ullrich NJ, Kieran MW: Intensive multimodality treatment for children with newly diagnosed CNS atypical teratoid rhabdoid tumor. J Clin Oncol; 2009 Jan 20;27(3):385-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Intensive multimodality treatment for children with newly diagnosed CNS atypical teratoid rhabdoid tumor.
  • PURPOSE: Atypical teratoid rhabdoid tumor (ATRT) of the CNS is a highly malignant neoplasm primarily affecting young children, with a historic median survival ranging from 6 to 11 months.
  • Radiation therapy (RT) was prescribed, either focal (54 Gy) or craniospinal (36 Gy, plus primary boost), depending on age and extent of disease at diagnosis.
  • Median age at diagnosis was 26 months (range, 2.4 months to 19.5 years).
  • Gross total resection of the primary tumor was achieved in 11 patients.
  • Fourteen patients had M0 disease at diagnosis, one patient had M2 disease, and five patients had M3 disease.
  • CONCLUSION: This intensive multimodality regimen has resulted in a significant improvement in time to progression and overall survival for patients with this previously poor-prognosis tumor.
  • [MeSH-major] Brain Neoplasms / therapy. Rhabdoid Tumor / therapy. Teratoma / therapy

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  • [Cites] J Pediatr Hematol Oncol. 2002 Jun-Jul;24(5):337-42 [12142780.001]
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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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25. 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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26. 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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27. Howes TL, Buatti JM, O'Dorisio MS, Kirby PA, Ryken TC: Atypical teratoid/rhabdoid tumor case report: treatment with surgical excision, radiation therapy, and alternative medicines. J Neurooncol; 2005 Mar;72(1):85-8
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  • [Title] Atypical teratoid/rhabdoid tumor case report: treatment with surgical excision, radiation therapy, and alternative medicines.
  • Intracranial atypical teratoid/rhabdoid tumors (AT/RT) are rare with a poor prognosis.
  • We report one case of a 7-year old girl living over 17 months after the diagnosis of AT/RT in the left frontal lobe.
  • Radiation therapy resulted in complete response with no evidence of residual or recurrent disease more than 17 months after diagnosis.
  • [MeSH-major] Brain Neoplasms / radiotherapy. Rhabdoid Tumor / radiotherapy. Teratoma / radiotherapy

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  • [Cites] Pediatr Hematol Oncol. 2003 Jun;20(4):327-32 [12746165.001]
  • [Cites] J Neurosurg. 1996 Jul;85(1):56-65 [8683283.001]
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  • (PMID = 15803380.001).
  • [ISSN] 0167-594X
  • [Journal-full-title] Journal of neuro-oncology
  • [ISO-abbreviation] J. Neurooncol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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28. Zarovnaya EL, Pallatroni HF, Hug EB, Ball PA, Cromwell LD, Pipas JM, Fadul CE, Meyer LP, Park JP, Biegel JA, Perry A, Rhodes CH: Atypical teratoid/rhabdoid tumor of the spine in an adult: case report and review of the literature. J Neurooncol; 2007 Aug;84(1):49-55
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  • [Title] Atypical teratoid/rhabdoid tumor of the spine in an adult: case report and review of the literature.
  • Atypical teratoid/rhabdoid tumors (AT/RTs) are rare, malignant brain tumors which occur almost exclusively in infants and young children.
  • There have been only 17 cases of AT/RT in adults reported in the medical literature and the rarity of this tumor makes the diagnosis in adults difficult.
  • In consultation with senior pathologists at other institutions, the lesion was initially diagnosed as a rhabdoid meningioma.
  • Subsequently, immunohistochemical studies revealed the absence of INI1 gene expression in the malignant cells, supporting the diagnosis of AT/RT.
  • The patient underwent three additional surgical procedures for recurrent disease throughout the neuraxis secondary to leptomeningeal spread of the tumor.
  • To our knowledge, this is the first case of a spinal atypical teratoid/rhabdoid tumor in an adult fully documented with molecular, immunohistochemical, cytogenetic and autopsy findings.
  • [MeSH-major] Chromosomal Proteins, Non-Histone / genetics. Chromosomes, Human, Pair 22 / genetics. DNA-Binding Proteins / genetics. Neoplasm Recurrence, Local / pathology. Rhabdoid Tumor / pathology. Spinal Cord Neoplasms / pathology. Teratoma / pathology. Transcription Factors / genetics
  • [MeSH-minor] Adult. Cervical Vertebrae. Diagnosis, Differential. Fatal Outcome. Female. Humans. Immunohistochemistry. Monosomy / diagnosis. Monosomy / genetics. SMARCB1 Protein

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

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  • (PMID = 20043739.001).
  • [ISSN] 1933-0715
  • [Journal-full-title] Journal of neurosurgery. Pediatrics
  • [ISO-abbreviation] J Neurosurg Pediatr
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / CA046274-18; United States / NCI NIH HHS / CA / R01 CA046274; United States / NCI NIH HHS / CA / R01 CA046274-18
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Other-IDs] NLM/ NIHMS184119; NLM/ PMC2840717
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30. Warmuth-Metz M, Bison B, Dannemann-Stern E, Kortmann R, Rutkowski S, Pietsch T: CT and MR imaging in atypical teratoid/rhabdoid tumors of the central nervous system. Neuroradiology; 2008 May;50(5):447-52
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  • [Title] CT and MR imaging in atypical teratoid/rhabdoid tumors of the central nervous system.
  • INTRODUCTION: Atypical teratoid/rhabdoid tumors (ATRT) are rare aggressive neoplasms of the CNS affecting predominantly very young children.
  • METHODS: We retrospectively reviewed the imaging findings of 9 CT and 32 MR examinations of the brain and spine of 33 children.
  • Heterogeneity on imaging, large size and high tumor stages are striking features reflecting the aggressive nature of this histopathological entity.
  • [MeSH-major] Brain Neoplasms / diagnosis. Magnetic Resonance Imaging. Rhabdoid Tumor / diagnosis. Spinal Cord Neoplasms / diagnosis. Teratoma / diagnosis. Tomography, X-Ray Computed

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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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31. 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.
  • [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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32. Donovan DJ, Smith AB, Petermann GW: Atypical teratoid/rhabdoid tumor of the velum interpositum presenting as a spontaneous intraventricular hemorrhage in an infant: case report with long-term survival. Pediatr Neurosurg; 2006;42(3):187-92
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  • [Title] Atypical teratoid/rhabdoid tumor of the velum interpositum presenting as a spontaneous intraventricular hemorrhage in an infant: case report with long-term survival.
  • Atypical teratoid/rhabdoid tumors (ATRT) of infancy are highly malignant neoplasms that are most common in the first 2 years of life.
  • Serial imaging studies and two ventriculoscopic biopsies were required to establish the diagnosis of the tumor in this unique location and in the midst of an evolving hematoma.
  • At 4-year follow-up, the child is neurologically intact, meeting normal developmental milestones, and imaging studies show no evidence of tumor.
  • Spontaneous brain hemorrhage in a full-term infant requires a diligent and persistent search to rule out an underlying neoplasm.
  • [MeSH-major] Brain Neoplasms / surgery. Cerebral Hemorrhage / etiology. Cerebral Ventricle Neoplasms / surgery. Rhabdoid Tumor / surgery. Survivors. Teratoma / surgery
  • [MeSH-minor] Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Biopsy. Chemotherapy, Adjuvant. Craniotomy. Diagnosis, Differential. Epilepsy, Generalized / diagnosis. Epilepsy, Generalized / etiology. Epilepsy, Generalized / surgery. Epilepsy, Tonic-Clonic / diagnosis. Epilepsy, Tonic-Clonic / etiology. Epilepsy, Tonic-Clonic / surgery. Female. Humans. Hydrocephalus / diagnosis. Hydrocephalus / surgery. Infant. Lateral Ventricles / pathology. Lateral Ventricles / surgery. Magnetic Resonance Imaging. Microscopy, Electron. Reoperation. Third Ventricle / pathology. Third Ventricle / surgery. Tomography, X-Ray Computed. Ventriculoperitoneal Shunt. Ventriculostomy

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  • [Copyright] Copyright 2006 S. Karger AG, Basel
  • (PMID = 16636624.001).
  • [ISSN] 1016-2291
  • [Journal-full-title] Pediatric neurosurgery
  • [ISO-abbreviation] Pediatr Neurosurg
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Switzerland
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33. Birks DK, Kleinschmidt-DeMasters BK, Donson AM, Barton VN, McNatt SA, Foreman NK, Handler MH: Claudin 6 is a positive marker for atypical teratoid/rhabdoid tumors. Brain Pathol; 2010 Jan;20(1):140-50
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  • [Title] Claudin 6 is a positive marker for atypical teratoid/rhabdoid tumors.
  • Atypical teratoid/rhabdoid tumors (AT/RTs) are highly aggressive pediatric brain tumors characterized by the presence of rhabdoid cells and negative immunostaining for INI1 (BAF47).
  • Histogenesis is unknown and diagnosis can be challenging because of their extreme morphological and immunophenotypic heterogeneity.
  • To search for possible candidate proteins of interest in AT/RTs, Affymetrix GeneChip microarrays were utilized to investigate nine AT/RTs vs. 124 other tumor samples.
  • Immunohistochemical (IHC) staining of 33 tumor specimens found positive membrane staining in seven of seven AT/RTs, and was negative in 26 of 27 other brain tumor samples.
  • [MeSH-major] Brain Neoplasms / metabolism. Membrane Proteins / metabolism. Rhabdoid Tumor / metabolism. Teratoma / metabolism
  • [MeSH-minor] Adult. Antibodies, Neoplasm / chemistry. Biomarkers, Tumor. Blotting, Western. Child, Preschool. Claudins. Female. Gene Expression Regulation, Neoplastic. Humans. Immunohistochemistry. Infant. Infratentorial Neoplasms / pathology. Male. Oligonucleotide Array Sequence Analysis. RNA, Messenger / biosynthesis. RNA, Neoplasm / biosynthesis. Reverse Transcriptase Polymerase Chain Reaction. Survival Analysis

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  • (PMID = 19220299.001).
  • [ISSN] 1750-3639
  • [Journal-full-title] Brain pathology (Zurich, Switzerland)
  • [ISO-abbreviation] Brain Pathol.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Switzerland
  • [Chemical-registry-number] 0 / Antibodies, Neoplasm; 0 / Biomarkers, Tumor; 0 / Claudins; 0 / Membrane Proteins; 0 / RNA, Messenger; 0 / RNA, Neoplasm; 0 / claudin 6
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34. 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.
  • [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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35. 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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  • [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.
  • 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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36. Bouvier C, De Paula AM, Fernandez C, Quilichini B, Scavarda D, Gentet JC, Figarella-Branger D: Atypical teratoid/rhabdoid tumour: 7-year event-free survival with gross total resection and radiotherapy in a 7-year-old boy. Childs Nerv Syst; 2008 Jan;24(1):143-7
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  • [Title] Atypical teratoid/rhabdoid tumour: 7-year event-free survival with gross total resection and radiotherapy in a 7-year-old boy.
  • The tumour was composed of sheets of rhabdoid cells which diffusely expressed vimentin and focally epithelial membrane antigen (EMA) and alpha-smooth actin by immunohistochemistry.
  • Small foci of rhabdoid cells were found.
  • Molecular techniques performed on frozen specimen of the orbital tumour confirmed the diagnosis of atypical teratoid/rhabdoid tumour (ATRT).
  • DISCUSSION: We discuss the pathological criteria for diagnosis of ATRT and the usefulness of early radiotherapy in the light of the recent literature.
  • [MeSH-major] Brain Neoplasms / diagnosis. Teratoma / diagnosis
  • [MeSH-minor] Actins / analysis. Child. Combined Modality Therapy. Diagnosis, Differential. Frontal Lobe / chemistry. Frontal Lobe / radiation effects. Frontal Lobe / surgery. Humans. Immunohistochemistry. Male. Mucin-1 / analysis. Muscle, Smooth / chemistry. Rhabdoid Tumor / diagnosis. Rhabdoid Tumor / radiotherapy. Rhabdoid Tumor / surgery. Treatment Outcome. Vimentin / analysis

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  • (PMID = 17968559.001).
  • [ISSN] 1433-0350
  • [Journal-full-title] Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
  • [ISO-abbreviation] Childs Nerv Syst
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Actins; 0 / Mucin-1; 0 / Vimentin
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37. 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.
  • There are presently three event-free survivors 42+, 54+, and 67+ months following diagnosis; none received RT.
  • [MeSH-major] Antineoplastic Combined Chemotherapy Protocols / therapeutic use. Brain Neoplasms / therapy. Hematopoietic Stem Cell Transplantation. Rhabdoid Tumor / therapy. Teratoma / therapy

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  • (PMID = 18381756.001).
  • [ISSN] 1545-5017
  • [Journal-full-title] Pediatric blood & cancer
  • [ISO-abbreviation] Pediatr Blood Cancer
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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38. 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.
  • 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.
  • We report a case of primary RT of the brain located in the right frontal lobe with the clinical, radiographic and pathological features presenting at an unusual age.
  • 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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39. Erickson ML, Johnson R, Bannykh SI, de Lotbiniere A, Kim JH: Malignant rhabdoid tumor in a pregnant adult female: literature review of central nervous system rhabdoid tumors. J Neurooncol; 2005 Sep;74(3):311-9
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  • [Title] Malignant rhabdoid tumor in a pregnant adult female: literature review of central nervous system rhabdoid tumors.
  • Rhabdoid tumors of the central nervous system are uncommon, aggressive childhood malignancies.
  • Central nervous system rhabdoid lesions of adults have been diagnosed as primary malignant rhabdoid tumors, atypical teratoid/rhabdoid tumors, and more recently, rhabdoid glioblastomas.
  • Pathologic evaluation revealed histology, electron microscopy and immunohistochemistry consistent with the diagnosis of malignant rhabdoid tumor.
  • FISH studies were negative for the INI-1 genetic mutations and chromosome 22q deletion associated with childhood atypical rhabdoid/rhabdoid tumor in 75% of cases.
  • We briefly describe the characteristics and current understanding of rhabdoid tumors, and review the literature comparing the 12 other cases of central nervous system rhabdoid tumors in adults.
  • [MeSH-major] Brain Neoplasms / pathology. Pregnancy Complications, Neoplastic / pathology. Rhabdoid Tumor / pathology

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  • (PMID = 16132523.001).
  • [ISSN] 0167-594X
  • [Journal-full-title] Journal of neuro-oncology
  • [ISO-abbreviation] J. Neurooncol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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40. Kleinschmidt-DeMasters BK, Alassiri AH, Birks DK, Newell KL, Moore W, Lillehei KO: Epithelioid versus rhabdoid glioblastomas are distinguished by monosomy 22 and immunohistochemical expression of INI-1 but not claudin 6. Am J Surg Pathol; 2010 Mar;34(3):341-54
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  • [Title] Epithelioid versus rhabdoid glioblastomas are distinguished by monosomy 22 and immunohistochemical expression of INI-1 but not claudin 6.
  • Epithelioid and rhabdoid glioblastomas are rare entities that share some overlapping morphologic features, but remain poorly characterized at the immunohistochemical and genetic level.
  • We report 10 examples: 8 epithelioid glioblastomas (E-GBMs) and 2 rhabdoid GBMs (R-GBMs).
  • R-GBMs showed tumor with classic rhabdoid features arising as a subpopulation of an otherwise classic GBM, fitting the definition of composite extrarenal rhabdoid tumors.
  • Polyphenotypic immunohistochemical expression and focal loss of INI-1 protein in the rhabdoid areas of R-GBMs distinguished them from E-GBMs.
  • Immunostaining for claudin-6, a key component of tight junctions that we have earlier shown to be a positive cytoplasmic immunohistochemical marker for atypical teratoid or rhabdoid tumors (AT/RTs), was also conducted.
  • Thus, in the CNS, claudin-6 expression may be a good discriminator of atypical teratoid or rhabdoid tumors from other CNS rhabdoid or epithelioid neoplasms.
  • [MeSH-major] Biomarkers, Tumor / analysis. Brain Neoplasms / diagnosis. Chromosomal Proteins, Non-Histone / analysis. Chromosomes, Human, Pair 22. DNA-Binding Proteins / analysis. Epithelioid Cells / chemistry. Glioblastoma / diagnosis. Membrane Proteins / analysis. Monosomy. Rhabdoid Tumor / diagnosis. Transcription Factors / analysis
  • [MeSH-minor] Adolescent. Adult. Aged. Child. Claudins. Diagnosis, Differential. Female. Gene Expression Regulation, Neoplastic. Humans. Immunohistochemistry. In Situ Hybridization, Fluorescence. Magnetic Resonance Imaging. Male. Predictive Value of Tests. Young Adult

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  • (PMID = 20118769.001).
  • [ISSN] 1532-0979
  • [Journal-full-title] The American journal of surgical pathology
  • [ISO-abbreviation] Am. J. Surg. Pathol.
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Biomarkers, Tumor; 0 / Chromosomal Proteins, Non-Histone; 0 / Claudins; 0 / DNA-Binding Proteins; 0 / Membrane Proteins; 0 / SMARCB1 protein, human; 0 / Transcription Factors; 0 / claudin 6
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41. Nomura Y, Yasumoto S, Yanai F, Akiyoshi H, Inoue T, Nibu K, Tsugu H, Fukushima T, Hirose S: Survival and late effects on development of patients with infantile brain tumor. Pediatr Int; 2009 Jun;51(3):337-41
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  • [Title] Survival and late effects on development of patients with infantile brain tumor.
  • BACKGROUND: Most infants with brain tumor may have a poor prognosis.
  • The aim of the present study was to retrospectively analyze the survival and outcome with regard to mental and physical development in 11 subjects with brain tumor; these tumors were diagnosed when the patients were under 1 year of age.
  • METHODS: The histological diagnoses of these tumors were astrocytoma, n = 3; pineocytoma, n = 2; teratoma, n = 1; ependymoma, n = 1; atypical teratoid/rhabdoid tumor, n = 1; glioblastoma, n = 1; medulloblastoma, n = 1; and choroid plexus papilloma, n = 1.
  • Among the surviving patients, five were under no treatment for 50-167 months after the diagnosis (median duration, 89 months), while one received chemotherapy for 20 months.
  • The remaining five patients died 11-111 months after diagnosis (median duration, 24 months).
  • CONCLUSION: The prognosis of infantile brain tumor with regard to mortality and developmental outcome remains poor.
  • [MeSH-major] Astrocytoma / mortality. Brain Neoplasms / mortality. Child Development. Pinealoma / mortality

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  • (PMID = 19400825.001).
  • [ISSN] 1442-200X
  • [Journal-full-title] Pediatrics international : official journal of the Japan Pediatric Society
  • [ISO-abbreviation] Pediatr Int
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Australia
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42. Judkins AR, Ellison DW: Ependymoblastoma: dear, damned, distracting diagnosis, farewell!*. Brain Pathol; 2010 Jan;20(1):133-9
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  • [Title] Ependymoblastoma: dear, damned, distracting diagnosis, farewell!*.
  • Three other cases showed rare ependymoblastic rosettes in the histopathological setting of a typical primitive neuroectodermal tumor (PNET), medulloblastoma (MB) or atypical teratoid/rhabdoid tumor (AT/RT).
  • We believe that ependymoblastoma as a diagnosis is neither precise nor specific and that it is time once and for all to retire this diagnosis from the lexicon of neuropathology.
  • [MeSH-major] Central Nervous System Neoplasms / diagnosis. Central Nervous System Neoplasms / pathology. Neuroectodermal Tumors, Primitive / diagnosis. Neuroectodermal Tumors, Primitive / pathology
  • [MeSH-minor] Cell Differentiation / physiology. Child. Child, Preschool. Female. Ganglia / cytology. Humans. Immunohistochemistry. Infant. Male. Medulloblastoma / pathology. Neoplasms, Germ Cell and Embryonal / pathology. Neurons / physiology. Neuropil / pathology. Rhabdoid Tumor / pathology. Rosette Formation. Sex Factors. Teratoma / pathology. Terminology as Topic

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  • (PMID = 19120373.001).
  • [ISSN] 1750-3639
  • [Journal-full-title] Brain pathology (Zurich, Switzerland)
  • [ISO-abbreviation] Brain Pathol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Switzerland
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43. Takei H, Bhattacharjee MB, Rivera A, Dancer Y, Powell SZ: New immunohistochemical markers in the evaluation of central nervous system tumors: a review of 7 selected adult and pediatric brain tumors. Arch Pathol Lab Med; 2007 Feb;131(2):234-41
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  • [Title] New immunohistochemical markers in the evaluation of central nervous system tumors: a review of 7 selected adult and pediatric brain tumors.
  • CONTEXT: Immunohistochemistry (IHC) has become an important tool in the diagnosis of brain tumors.
  • DATA SYNTHESIS: We review the features of new, useful or potentially applicable marker antibodies as well as the new uses of already established antibodies in the area of diagnostic neuro-oncologic pathology, focusing on the use of IHC for differential diagnosis and prognosis.
  • We discuss (1) placental alkaline phosphatase, c-Kit, and OCT4 for germinoma, (2) alpha-inhibin and D2-40 for capillary hemangioblastoma, (3) phosphohistone-H3 (PHH3), MIB-1/Ki-67, and claudin-1 for meningioma, (4) PHH3, MIB-1/Ki-67, and p53 for astrocytoma, (5) synaptophysin, microtubule-associated protein 2, neurofilament protein, and neuronal nuclei for medulloblastoma, (6) INI1 for atypical teratoid/rhabdoid tumor, and (7) epithelial membrane antigen for ependymoma.
  • All the markers presented here are used mainly for supporting or confirming the diagnosis, with the exception of the proliferation markers (MIB-1/Ki-67 and PHH3), which are primarily used to support grading and are reportedly associated with prognosis in certain categories of brain tumors.
  • CONCLUSIONS: Although conventional hematoxylin-eosin staining is the mainstay for pathologic diagnosis, IHC has played a major role in differential diagnosis and in improving diagnostic accuracy not only in general surgical pathology but also in neuro-oncologic pathology.
  • In addition, IHC is also of great help in predicting the prognosis for certain brain tumors.
  • [MeSH-major] Biomarkers, Tumor / analysis. Central Nervous System Neoplasms / diagnosis. Central Nervous System Neoplasms / metabolism. Immunohistochemistry
  • [MeSH-minor] Adult. Antibodies. Astrocytoma / diagnosis. Astrocytoma / metabolism. Child. Diagnosis, Differential. Ependymoma / diagnosis. Ependymoma / metabolism. Germinoma / diagnosis. Germinoma / metabolism. Hemangioblastoma / diagnosis. Hemangioblastoma / metabolism. Humans. Medulloblastoma / diagnosis. Medulloblastoma / metabolism. Meningioma / diagnosis. Meningioma / metabolism. Rhabdoid Tumor / diagnosis. Rhabdoid Tumor / metabolism

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  • (PMID = 17284108.001).
  • [ISSN] 1543-2165
  • [Journal-full-title] Archives of pathology & laboratory medicine
  • [ISO-abbreviation] Arch. Pathol. Lab. Med.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antibodies; 0 / Biomarkers, Tumor
  • [Number-of-references] 96
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44. Wong TT, Ho DM, Chang KP, Yen SH, Guo WY, Chang FC, Liang ML, Pan HC, Chung WY: Primary pediatric brain tumors: statistics of Taipei VGH, Taiwan (1975-2004). Cancer; 2005 Nov 15;104(10):2156-67
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  • [Title] Primary pediatric brain tumors: statistics of Taipei VGH, Taiwan (1975-2004).
  • BACKGROUND: The purpose of the current study was to investigate a hospital series of 986 cases of primary pediatric brain tumors in Taiwan.
  • METHODS: The authors reviewed the database of primary pediatric brain tumors in patients < 18 years of age collected in Taipei Veterans General Hospital (Taipei VGH) from 1975 to May 2004.
  • Age and gender distribution, location, and classification of brain tumors were analyzed.
  • In these series, 886 patients had either histologic diagnosis (842 patients) or clinical diagnosis (44 patients).
  • Atypical teratoid/rhabdoid tumors (AT/RTs), a rare but highly malignant tumor, were 2.1%.
  • For the remaining 100 patients without diagnostic classifications, the majority were most likely astrocytic tumors in brain stem.
  • CONCLUSIONS: The authors analyzed a large hospital series of primary brain tumors in children.
  • Although it was not a study of a population-based brain tumor registry, it could still be representative of primary pediatric brain tumors in Taiwan.
  • [MeSH-major] Brain Neoplasms / classification. Brain Neoplasms / pathology

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  • [Copyright] Copyright 2005 American Cancer Society
  • (PMID = 16220552.001).
  • [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
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45. Pipp I, Wagner L, Rössler K, Budka H, Preusser M: Secretagogin expression in tumours of the human brain and its coverings. APMIS; 2007 Apr;115(4):319-26
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  • [Title] Secretagogin expression in tumours of the human brain and its coverings.
  • Secretagogin is a recently described calcium-binding protein, which is expressed in some neurons of the human brain.
  • In this study we systematically investigated secretagogin expression in 245 tumours of the human brain and its coverings using immunohistochemistry.
  • We detected no secretagogin expression in fibrillary astrocytoma, pilocytic astrocytoma, DNT, pineocytoma, pineoblastoma, subependymal giant cell astrocytoma (SEGA), atypical teratoid/rhabdoid tumour (AT/RT), or primary central nervous system lymphoma (PCNSL).
  • We conclude that secretagogin is differentially expressed in human neuronal, glial, and embryonal brain tumours, meningial neoplasms and pituitary adenomas.
  • Our findings indicate that secretagogin is involved in the calcium metabolism of tumour cells and endothelial cells in a subset of neoplasms of the brain and its coverings.
  • [MeSH-major] Biomarkers, Tumor / analysis. Brain Neoplasms / diagnosis. Calcium-Binding Proteins / analysis

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  • (PMID = 17504298.001).
  • [ISSN] 0903-4641
  • [Journal-full-title] APMIS : acta pathologica, microbiologica, et immunologica Scandinavica
  • [ISO-abbreviation] APMIS
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Denmark
  • [Chemical-registry-number] 0 / Biomarkers, Tumor; 0 / Calcium-Binding Proteins; 0 / SCGN protein, human; 0 / Secretagogins
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46. Shih CS, Hale GA, Gronewold L, Tong X, Laningham FH, Gilger EA, Srivastava DK, Kun LE, Gajjar A, Fouladi M: High-dose chemotherapy with autologous stem cell rescue for children with recurrent malignant brain tumors. Cancer; 2008 Mar 15;112(6):1345-53
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  • [Title] High-dose chemotherapy with autologous stem cell rescue for children with recurrent malignant brain tumors.
  • RESULTS: The median age at diagnosis was 4.5 years (range, 0.4-16.6 years) and that at ASCR was 6.7 years (range, 1.1-18.5 years).
  • Diagnoses included medulloblastoma (13 patients), primitive neuroectodermal tumor (3 patients), pineoblastoma (2 patients), atypical teratoid rhabdoid tumor (2 patients), ependymoma (3 patients), anaplastic astrocytoma (2 patients), and glioblastoma multiforme (2 patients).
  • The 5-year PFS rate for patients aged<3 years at diagnosis (57.1%) was significantly better than older patients (5.0%) (P=.019).
  • Among the 6 long-term survivors (5 with M0 disease and 1 with M3 disease at diagnosis), 5 received both radiotherapy and HDCT as part of their salvage regimen; 4 were aged<3 years at diagnosis and had received chemotherapy only as part of frontline therapy.
  • [MeSH-major] Antineoplastic Combined Chemotherapy Protocols / administration & dosage. Brain Neoplasms / therapy. Stem Cell Transplantation
  • [MeSH-minor] Adolescent. Child. Child, Preschool. Combined Modality Therapy. Disease-Free Survival. Ependymoma / diagnosis. Ependymoma / therapy. Female. Follow-Up Studies. Glioblastoma / diagnosis. Humans. Infant. Male. Medulloblastoma / pathology. Medulloblastoma / therapy. Neuroectodermal Tumors, Primitive / diagnosis. Neuroectodermal Tumors, Primitive / therapy. Pinealoma / pathology. Pinealoma / therapy. Retrospective Studies. Rhabdoid Tumor / pathology. Rhabdoid Tumor / therapy. Salvage Therapy. Survival Rate. Transplantation, Autologous. Treatment Outcome

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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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47. Fan YS, Lui PC, Tam FK, Hung KN, Ng HK, Leung SY: A 33-year-old Chinese woman with a left frontal tumor. Brain Pathol; 2009 Apr;19(2):337-40
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  • [Title] A 33-year-old Chinese woman with a left frontal tumor.
  • Rhabdoid tumor cells are typically observed in atypical teratoid/rhabdoid tumor (AT/RT) but may also be seen in meningioma,glioma, melanoma, rhabdomyosarcoma and metastatic carcinoma.We present an astroblastoma with unusual rhabdoid features which is rarely described in the English literature.
  • Apart from the rhabdoid tumor cells, all the histopathological features typical for astroblastoma are present in this case.
  • These features include pseudopapillary arrangement, astroblastic pseudorosettes, perivascular hyalinization and calcifications, absence of fibrillary background and a pushing tumor border.
  • The tumor cells display a multilineage immunohistochemical profile.
  • The diagnosis of astroblastoma is also well supported by the age of presentation, anatomical location and radiological features of the tumor.We believe that on top of the above-mentioned unusual tumors with rhabdoid cells, astroblastoma should also be considered in the list of differential diagnosis.
  • [MeSH-major] Brain Neoplasms / pathology. Frontal Lobe. Neoplasms, Neuroepithelial / pathology

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  • (PMID = 19291001.001).
  • [ISSN] 1750-3639
  • [Journal-full-title] Brain pathology (Zurich, Switzerland)
  • [ISO-abbreviation] Brain Pathol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Switzerland
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48. Ortiz J, Otero A, Bengoechea O, Gonçalves J, Sousa P, Figols J, Bullón A: Divergent ependymal tumor (ependymoblastoma/anaplastic ependymoma) of the posterior fossa: an uncommon case observed in a child. J Child Neurol; 2008 Sep;23(9):1058-61
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  • [Title] Divergent ependymal tumor (ependymoblastoma/anaplastic ependymoma) of the posterior fossa: an uncommon case observed in a child.
  • We report a divergent ependymal tumor of the posterior fossa (ependymoblastoma/anaplastic ependymoma) observed in an 8-year-old boy.
  • The tumor showed the histological pattern typical of an ependymoblastoma (tubular-papillary fetaloid architecture with stratification of the tumor cells) next to areas in which findings typical of an anaplastic ependymoma were detected.
  • The immunohistochemical study confirmed our diagnostic suspicion, allowing us to establish a differential diagnosis with other entities such as medulloblastoma, medulloepithelioma, atypical rhabdoid/teratoid tumor, or metastases.
  • [MeSH-minor] Age Factors. Age of Onset. Biomarkers, Tumor / analysis. Biomarkers, Tumor / metabolism. Brain Stem / pathology. Brain Stem / physiopathology. Cerebellum / pathology. Cerebellum / physiopathology. Child. Diagnosis, Differential. Female. Headache / etiology. Humans. Magnetic Resonance Imaging. Medulloblastoma / diagnosis. Neurosurgical Procedures. Treatment Outcome. Vomiting / etiology

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  • (PMID = 18827270.001).
  • [ISSN] 1708-8283
  • [Journal-full-title] Journal of child neurology
  • [ISO-abbreviation] J. Child Neurol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Biomarkers, Tumor
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49. Ferri Niguez B, Martínez-Lage JF, Almagro MJ, Fuster JL, Serrano C, Torroba MA, Sola J: Embryonal tumor with abundant neuropil and true rosettes (ETANTR): a new distinctive variety of pediatric PNET: a case-based update. Childs Nerv Syst; 2010 Aug;26(8):1003-8
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  • [Title] Embryonal tumor with abundant neuropil and true rosettes (ETANTR): a new distinctive variety of pediatric PNET: a case-based update.
  • BACKGROUND: Embryonal central nervous system (CNS) tumors are currently classified into three types: medulloblastoma, atypical rhabdoid/teratoid tumors, and primitive neuroectodermal tumor (PNET).
  • A distinctive subtype of PNET called "embryonal tumor with abundant neuropil and true rosettes" (ETANTR) was reported in 2000.
  • ETANTR is an eminently pediatric tumor that has been reported exclusively in children younger than 4 years.
  • A 23-month-old girl was submitted to surgery for a frontoparietal tumor.
  • In both instances, the histopathological diagnosis confirmed ETANTR.
  • [MeSH-major] Brain Neoplasms / pathology. Neuroectodermal Tumors, Primitive / pathology. Neuropil / pathology

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  • [Cites] Am J Surg Pathol. 2009 Feb;33(2):211-7 [18987548.001]
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  • (PMID = 20499240.001).
  • [ISSN] 1433-0350
  • [Journal-full-title] Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
  • [ISO-abbreviation] Childs Nerv Syst
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Antineoplastic Agents
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50. Pytel P, Lukas RV: Update on diagnostic practice: tumors of the nervous system. Arch Pathol Lab Med; 2009 Jul;133(7):1062-77
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  • CONTEXT: Changes in the practice of diagnosing brain tumors are formally reflected in the evolution of the World Health Organization classification.
  • The development of new treatment strategies also leads to different questions in the assessment of brain tumors, as seen in the example of pseudoprogression or the changes in tumor growth pattern in patients taking bevacizumab.
  • Finally, the discussion of primitive pediatric tumors stresses the clinical importance of the distinction between different entities, like atypical teratoid rhabdoid tumor, "central" (supratentorial) primitive neuroectodermal tumor, "peripheral" primitive neuroectodermal tumor, and medulloblastoma.
  • [MeSH-major] Brain Neoplasms / diagnosis. Nervous System Neoplasms / diagnosis. World Health Organization
  • [MeSH-minor] Glioblastoma / classification. Glioblastoma / diagnosis. Humans. Medulloblastoma / classification. Medulloblastoma / diagnosis. Oligodendroglioma / classification. Oligodendroglioma / diagnosis. Rhabdoid Tumor / classification. Rhabdoid Tumor / diagnosis

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  • (PMID = 19642733.001).
  • [ISSN] 1543-2165
  • [Journal-full-title] Archives of pathology & laboratory medicine
  • [ISO-abbreviation] Arch. Pathol. Lab. Med.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 139
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51. 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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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Central nervous system (CNS) primitive neuroectodermal tumors (PNETs) include supratentorial, brain stem, and spinal cord tumors with medulloblastoma-like histopathology.
  • After re-diagnosis of three infantile cases as atypical teratoid/rhabdoid tumor (AT/RT), 33 remaining CNS PNETs were retrieved for clinicopathologic and fluorescence in situ hybridization studies.
  • [MeSH-major] Brain Neoplasms / genetics. Brain Neoplasms / pathology. Neuroectodermal Tumors, Primitive / genetics. Neuroectodermal Tumors, Primitive / pathology. Spinal Cord Neoplasms / genetics. Spinal Cord Neoplasms / pathology
  • [MeSH-minor] Adolescent. Adult. Aneuploidy. Child. Child, Preschool. Chromosomes, Human, Pair 2. Chromosomes, Human, Pair 22. Chromosomes, Human, Pair 8. Female. Humans. Infant. Male. Middle Aged. Nuclear Proteins / genetics. Oncogene Proteins / genetics. RNA-Binding Protein EWS / genetics. Rhabdoid Tumor / diagnosis. Rhabdoid Tumor / genetics. Rhabdoid Tumor / pathology. Teratoma / diagnosis. Teratoma / genetics. Teratoma / pathology. Young Adult

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  • (PMID = 19725831.001).
  • [ISSN] 1750-3639
  • [Journal-full-title] Brain pathology (Zurich, Switzerland)
  • [ISO-abbreviation] Brain Pathol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Switzerland
  • [Chemical-registry-number] 0 / MYCN protein, human; 0 / Nuclear Proteins; 0 / Oncogene Proteins; 0 / RNA-Binding Protein EWS
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52. Benesch M, Siegler N, Hoff Kv, Lassay L, Kropshofer G, Müller H, Sommer C, Rutkowski S, Fleischhack G, Urban C: Safety and toxicity of intrathecal liposomal cytarabine (Depocyte) in children and adolescents with recurrent or refractory brain tumors: a multi-institutional retrospective study. Anticancer Drugs; 2009 Oct;20(9):794-9
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  • [Title] Safety and toxicity of intrathecal liposomal cytarabine (Depocyte) in children and adolescents with recurrent or refractory brain tumors: a multi-institutional retrospective study.
  • This retrospective study aimed to evaluate the safety and toxicity of intrathecal liposomal cytarabine (Depocyte) in children and adolescents with refractory or recurrent brain tumors.
  • Nineteen heavily pretreated patients (males, n = 14; females, n = 5; median age at diagnosis 8.5 years; range, 1.4-22 years) were given intrathecal liposomal cytarabine on a compassionate use basis for recurrent refractory medulloblastoma (n = 12), mixed germ cell tumor (n = 2), central nervous system primitive neuroectodermal tumors of the pons (n = 1), anaplastic ependymoma (n = 1), anaplastic oligodendroglioma (n = 1), atypical teratoid rhabdoid tumor (n = 1), or rhabdoid papillary meningioma (n = 1).
  • In conclusion, although intrathecal liposomal cytarabine was generally well tolerated, it should be used cautiously and only with dexamethasone prophylaxis in extensively pretreated patients with recurrent brain tumors.
  • [MeSH-major] Antimetabolites, Antineoplastic / adverse effects. Brain Neoplasms / drug therapy. Cytarabine / administration & dosage. Cytarabine / adverse effects

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  • (PMID = 19617818.001).
  • [ISSN] 1473-5741
  • [Journal-full-title] Anti-cancer drugs
  • [ISO-abbreviation] Anticancer Drugs
  • [Language] eng
  • [Publication-type] Clinical Trial; Journal Article; Multicenter Study
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Antimetabolites, Antineoplastic; 0 / Delayed-Action Preparations; 0 / Liposomes; 04079A1RDZ / Cytarabine
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53. 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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  • Tremendous progress has recently been made in both molecular subgrouping, and the establishment of prognostic biomarkers for embryonal brain tumors, particularly medulloblastoma.
  • 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.
  • 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.
  • In summary, these consistent findings have significantly contributed to our ability to sub-classify embryonal brain tumors into clinically and biologically meaningful strata and, for some of the subgroups, have led to the identification of specific targets for future development of molecularly targeted therapies.
  • [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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54. 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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  • 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.
  • [MeSH-major] Brain Neoplasms / metabolism. DNA-Binding Proteins / metabolism. Germinoma / metabolism. Homeodomain Proteins / metabolism
  • [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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55. Rumboldt Z, Camacho DL, Lake D, Welsh CT, Castillo M: Apparent diffusion coefficients for differentiation of cerebellar tumors in children. AJNR Am J Neuroradiol; 2006 Jun-Jul;27(6):1362-9
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  • METHODS: Brain MR imaging studies that included ADC maps were retrospectively reviewed in 32 patients with histologically proved cerebellar neoplasm.
  • There were 17 juvenile pilocytic astrocytomas (JPA), 8 medulloblastomas, 5 ependymomas, and 2 rhabdoid (atypical teratoid/rhabdoid tumor [AT/RT]) tumors.
  • Absolute ADC values of contrast-enhancing solid tumor regions and ADC ratios (ADC of solid tumor to ADC of normal-appearing white matter) were compared with the histologic diagnosis.
  • ADC ratios were also significantly different among these 3 tumor types.
  • CONCLUSION: Assessment of ADC values of enhancing solid tumor is a simple and reliable technique for preoperative differentiation of cerebellar tumors in pediatric patients.
  • [MeSH-major] Cerebellar Neoplasms / diagnosis. Diffusion Magnetic Resonance Imaging
  • [MeSH-minor] Adolescent. Adult. Astrocytoma / diagnosis. Astrocytoma / pathology. Child. Child, Preschool. Diagnosis, Differential. Ependymoma / diagnosis. Ependymoma / pathology. Female. Humans. Infant. Male. Medulloblastoma / diagnosis. Medulloblastoma / pathology

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  • [CommentIn] Nat Clin Pract Neurol. 2007 Feb;3(2):78-9 [17279080.001]
  • (PMID = 16775298.001).
  • [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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56. 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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  • They represent less than 2% of all childhood brain tumors.
  • The prenatal diagnosis of congenital CNS tumors, while based on ultrasonography, has significantly benefited from the introduction of prenatal magnetic resonance imaging studies.
  • Teratomas constitute about one third to one half of these tumors and are the most common neonatal brain tumor.
  • Other tumors include astrocytomas, choroid plexus papilloma, primitive neuroectodermal tumors, atypical teratoid/rhabdoid tumors, and medulloblastomas.
  • Differential diagnoses include spontaneous intracranial hemorrhage that can occur in the presence of coagulation factor deficiency or underlying vascular malformations, and congenital brain malformations, especially giant heterotopia.
  • The prognosis for patients with congenital tumors is generally poor, usually because of the massive size of the tumor.
  • [MeSH-major] Central Nervous System Neoplasms / congenital. Central Nervous System Neoplasms / diagnosis. Magnetic Resonance Imaging / methods. Tomography, X-Ray Computed / methods

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  • (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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57. Muzumdar D, Ventureyra EC: Treatment of posterior fossa tumors in children. Expert Rev Neurother; 2010 Apr;10(4):525-46

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Atypical rhabdoid teratoid tumors and brain stem gliomas are relatively rare.
  • Early detection and diagnosis of these tumors and prompt neurosurgical consultation is crucial in the optimum management of pediatric infratentorial brain tumors.
  • Surgery is the mainstay of treatment, as it provides biopsy and decompression of the tumor.

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  • (PMID = 20367206.001).
  • [ISSN] 1744-8360
  • [Journal-full-title] Expert review of neurotherapeutics
  • [ISO-abbreviation] Expert Rev Neurother
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Antineoplastic Agents
  • [Number-of-references] 215
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58. Yamashita Y, Kumabe T, Higano S, Watanabe M, Tominaga T: Minimum apparent diffusion coefficient is significantly correlated with cellularity in medulloblastomas. Neurol Res; 2009 Nov;31(9):940-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • The purpose of this study was to evaluate the relationship between ADC and tumor cellularity in medulloblastoma and other posterior fossa tumors.
  • METHODS: Pre-operative diffusion-weighted MR images were retrospectively reviewed in 26 patients with posterior fossa neoplasms: 11 medulloblastomas, one atypical teratoid/rhabdoid tumor (AT/RT), four glioblastomas, four ependymomas, three pilocytic astrocytomas and three hemangioblastomas.
  • The minimum ADC (minADC) value of each tumor was determined on ADC maps derived from isotropic diffusion-weighted MR images.
  • Tumor cellularity measured in surgical specimens was compared with the minADC value by simple linear regression analysis.
  • Tumor cellularity was negatively correlated with the minADC value in medulloblastomas and other posterior fossa tumors.
  • DISCUSSION: The low minADC value of medulloblastomas reflects the high tumor cellularity.
  • [MeSH-major] Brain Neoplasms / pathology. Diffusion Magnetic Resonance Imaging / methods. Medulloblastoma / pathology
  • [MeSH-minor] Adolescent. Adult. Aged. Astrocytoma / metabolism. Astrocytoma / pathology. Astrocytoma / physiopathology. Body Water / physiology. Cell Count. Child. Child, Preschool. Diagnosis, Differential. Diffusion. Ependymoma / metabolism. Ependymoma / pathology. Ependymoma / physiopathology. Extracellular Space / metabolism. Female. Hemangioblastoma / metabolism. Hemangioblastoma / pathology. Hemangioblastoma / physiopathology. Humans. Infant. Male. Middle Aged. Retrospective Studies. Young Adult

  • MedlinePlus Health Information. consumer health - Brain Tumors.
  • MedlinePlus Health Information. consumer health - Childhood Brain Tumors.
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  • (PMID = 19138469.001).
  • [ISSN] 1743-1328
  • [Journal-full-title] Neurological research
  • [ISO-abbreviation] Neurol. Res.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
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59. Chan I, Marshall GB, Abou-Reslan W, Morrish W: Case of the Month #133. Atypical teratoid rhabdoid tumour. Can Assoc Radiol J; 2008 Jun;59(3):144-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Case of the Month #133. Atypical teratoid rhabdoid tumour.
  • [MeSH-major] Brain / pathology. Brain Neoplasms / diagnosis. Magnetic Resonance Imaging / methods. Rhabdoid Tumor / diagnosis. Teratoma / diagnosis
  • [MeSH-minor] Contrast Media / administration & dosage. Diagnosis, Differential. Diffusion Magnetic Resonance Imaging / methods. Humans. Image Enhancement / methods. Infant. Lethargy / etiology. Male. Prognosis. Seizures / etiology. Vomiting / etiology

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  • (PMID = 18697721.001).
  • [ISSN] 0846-5371
  • [Journal-full-title] Canadian Association of Radiologists journal = Journal l'Association canadienne des radiologistes
  • [ISO-abbreviation] Can Assoc Radiol J
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Canada
  • [Chemical-registry-number] 0 / Contrast Media
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