Atypical teratoid/rhabdoid tumor of the central nervous system: A highly malignant tumor of infancy and childhood frequently mistaken for medulloblastoma: A Pediatric Oncology Group study

Peter C. Burger, I. T. Yu, Tarik Tihan, Henry S. Friedman, Douglas R. Strother, James L. Kepner, Patricia K. Duffner, Larry E. Kun, Elizabeth J. Perlman

Research output: Contribution to journalArticle

Abstract

Fifty-five patients with atypical teratoid/rhabdoid tumors of the central nervous system were studied to define the clinical and pathologic features of this newly described neoplasm. The lesion occurred primarily in children younger than 2 (mean age at diagnosis, 17 months). The neoplasms were located in the posterior fossa (36 patients) and the supratentorial compartment (17 patients) or were multifocal in both compartments (2 patients) at presentation. Histologically, the tumors were composed of small cells and large, pale cells in a jumbled architectural arrangement. The small cell component resembled medulloblastoma and occasionally had cords of cells in a mucinous background, simulating chordoma. The cytoplasm of the larger cells was conspicuous with a somewhat 'rhabdoid' appearance, although rhabdoid features were not always prominent. Epithelioid features in the form of poorly formed glands or Flexner-Wintersteiner rosettes were noted in a minority of lesions. The neoplasms showed striking polyphenotypic immunoreactivity, including that for vimentin, glial fibrillary acidic protein, epithelial membrane antigen, cytokeratins, synaptophysin, chromogranin, and smooth muscle actin. Using a probe for chromosome 22, seven of eight scorable cases showed a solitary signal by fluorescence in situ hybridization (FISH) consistent with monosomy 22. The eighth scorable case showed three signals by fluorescence in situ hybridization and had a translocation involving chromosome 22 reported by conventional cytogenetics. In contrast to patients with medulloblastoma, the neoplasm with which these lesions are often confused, the outcome of the patients was uniformly poor. The mean postoperative survival of patients with atypical teratoid/rhabdoid tumors was only 11 months. Local recurrence, seeding of the cerebrospinal fluid pathways, or both, were common terminal events. This study underscores the distinctive clinical, histopathologic, immunohistochemical, and cytogenetic character of this unusually aggressive tumor.

Original languageEnglish (US)
Pages (from-to)1083-1092
Number of pages10
JournalAmerican Journal of Surgical Pathology
Volume22
Issue number9
DOIs
StatePublished - Sep 1998

Fingerprint

Nervous System Neoplasms
Medulloblastoma
Central Nervous System
Pediatrics
Neoplasms
Chromosomes, Human, Pair 22
Fluorescence In Situ Hybridization
Cytogenetics
Chromogranins
Chordoma
Monosomy
Mucin-1
Synaptophysin
Glial Fibrillary Acidic Protein
Vimentin
Cellular Structures
Keratins
Typical Teratoid Rhabdoid Tumor
Atypical Teratoid Tumor
Smooth Muscle

Keywords

  • Atypical teratoid/rhabdoid tumor
  • Children
  • Embryonal tumors
  • Medulloblastoma
  • Primitive neuroectodermal tumor
  • Rhabdoid tumor

ASJC Scopus subject areas

  • Anatomy
  • Pathology and Forensic Medicine

Cite this

Atypical teratoid/rhabdoid tumor of the central nervous system : A highly malignant tumor of infancy and childhood frequently mistaken for medulloblastoma: A Pediatric Oncology Group study. / Burger, Peter C.; Yu, I. T.; Tihan, Tarik; Friedman, Henry S.; Strother, Douglas R.; Kepner, James L.; Duffner, Patricia K.; Kun, Larry E.; Perlman, Elizabeth J.

In: American Journal of Surgical Pathology, Vol. 22, No. 9, 09.1998, p. 1083-1092.

Research output: Contribution to journalArticle

Burger, Peter C. ; Yu, I. T. ; Tihan, Tarik ; Friedman, Henry S. ; Strother, Douglas R. ; Kepner, James L. ; Duffner, Patricia K. ; Kun, Larry E. ; Perlman, Elizabeth J. / Atypical teratoid/rhabdoid tumor of the central nervous system : A highly malignant tumor of infancy and childhood frequently mistaken for medulloblastoma: A Pediatric Oncology Group study. In: American Journal of Surgical Pathology. 1998 ; Vol. 22, No. 9. pp. 1083-1092.
@article{57901d25b4c54f6e962d1ce6dc6d8bae,
title = "Atypical teratoid/rhabdoid tumor of the central nervous system: A highly malignant tumor of infancy and childhood frequently mistaken for medulloblastoma: A Pediatric Oncology Group study",
abstract = "Fifty-five patients with atypical teratoid/rhabdoid tumors of the central nervous system were studied to define the clinical and pathologic features of this newly described neoplasm. The lesion occurred primarily in children younger than 2 (mean age at diagnosis, 17 months). The neoplasms were located in the posterior fossa (36 patients) and the supratentorial compartment (17 patients) or were multifocal in both compartments (2 patients) at presentation. Histologically, the tumors were composed of small cells and large, pale cells in a jumbled architectural arrangement. The small cell component resembled medulloblastoma and occasionally had cords of cells in a mucinous background, simulating chordoma. The cytoplasm of the larger cells was conspicuous with a somewhat 'rhabdoid' appearance, although rhabdoid features were not always prominent. Epithelioid features in the form of poorly formed glands or Flexner-Wintersteiner rosettes were noted in a minority of lesions. The neoplasms showed striking polyphenotypic immunoreactivity, including that for vimentin, glial fibrillary acidic protein, epithelial membrane antigen, cytokeratins, synaptophysin, chromogranin, and smooth muscle actin. Using a probe for chromosome 22, seven of eight scorable cases showed a solitary signal by fluorescence in situ hybridization (FISH) consistent with monosomy 22. The eighth scorable case showed three signals by fluorescence in situ hybridization and had a translocation involving chromosome 22 reported by conventional cytogenetics. In contrast to patients with medulloblastoma, the neoplasm with which these lesions are often confused, the outcome of the patients was uniformly poor. The mean postoperative survival of patients with atypical teratoid/rhabdoid tumors was only 11 months. Local recurrence, seeding of the cerebrospinal fluid pathways, or both, were common terminal events. This study underscores the distinctive clinical, histopathologic, immunohistochemical, and cytogenetic character of this unusually aggressive tumor.",
keywords = "Atypical teratoid/rhabdoid tumor, Children, Embryonal tumors, Medulloblastoma, Primitive neuroectodermal tumor, Rhabdoid tumor",
author = "Burger, {Peter C.} and Yu, {I. T.} and Tarik Tihan and Friedman, {Henry S.} and Strother, {Douglas R.} and Kepner, {James L.} and Duffner, {Patricia K.} and Kun, {Larry E.} and Perlman, {Elizabeth J.}",
year = "1998",
month = "9",
doi = "10.1097/00000478-199809000-00007",
language = "English (US)",
volume = "22",
pages = "1083--1092",
journal = "American Journal of Surgical Pathology",
issn = "0147-5185",
publisher = "Lippincott Williams and Wilkins",
number = "9",

}

TY - JOUR

T1 - Atypical teratoid/rhabdoid tumor of the central nervous system

T2 - A highly malignant tumor of infancy and childhood frequently mistaken for medulloblastoma: A Pediatric Oncology Group study

AU - Burger, Peter C.

AU - Yu, I. T.

AU - Tihan, Tarik

AU - Friedman, Henry S.

AU - Strother, Douglas R.

AU - Kepner, James L.

AU - Duffner, Patricia K.

AU - Kun, Larry E.

AU - Perlman, Elizabeth J.

PY - 1998/9

Y1 - 1998/9

N2 - Fifty-five patients with atypical teratoid/rhabdoid tumors of the central nervous system were studied to define the clinical and pathologic features of this newly described neoplasm. The lesion occurred primarily in children younger than 2 (mean age at diagnosis, 17 months). The neoplasms were located in the posterior fossa (36 patients) and the supratentorial compartment (17 patients) or were multifocal in both compartments (2 patients) at presentation. Histologically, the tumors were composed of small cells and large, pale cells in a jumbled architectural arrangement. The small cell component resembled medulloblastoma and occasionally had cords of cells in a mucinous background, simulating chordoma. The cytoplasm of the larger cells was conspicuous with a somewhat 'rhabdoid' appearance, although rhabdoid features were not always prominent. Epithelioid features in the form of poorly formed glands or Flexner-Wintersteiner rosettes were noted in a minority of lesions. The neoplasms showed striking polyphenotypic immunoreactivity, including that for vimentin, glial fibrillary acidic protein, epithelial membrane antigen, cytokeratins, synaptophysin, chromogranin, and smooth muscle actin. Using a probe for chromosome 22, seven of eight scorable cases showed a solitary signal by fluorescence in situ hybridization (FISH) consistent with monosomy 22. The eighth scorable case showed three signals by fluorescence in situ hybridization and had a translocation involving chromosome 22 reported by conventional cytogenetics. In contrast to patients with medulloblastoma, the neoplasm with which these lesions are often confused, the outcome of the patients was uniformly poor. The mean postoperative survival of patients with atypical teratoid/rhabdoid tumors was only 11 months. Local recurrence, seeding of the cerebrospinal fluid pathways, or both, were common terminal events. This study underscores the distinctive clinical, histopathologic, immunohistochemical, and cytogenetic character of this unusually aggressive tumor.

AB - Fifty-five patients with atypical teratoid/rhabdoid tumors of the central nervous system were studied to define the clinical and pathologic features of this newly described neoplasm. The lesion occurred primarily in children younger than 2 (mean age at diagnosis, 17 months). The neoplasms were located in the posterior fossa (36 patients) and the supratentorial compartment (17 patients) or were multifocal in both compartments (2 patients) at presentation. Histologically, the tumors were composed of small cells and large, pale cells in a jumbled architectural arrangement. The small cell component resembled medulloblastoma and occasionally had cords of cells in a mucinous background, simulating chordoma. The cytoplasm of the larger cells was conspicuous with a somewhat 'rhabdoid' appearance, although rhabdoid features were not always prominent. Epithelioid features in the form of poorly formed glands or Flexner-Wintersteiner rosettes were noted in a minority of lesions. The neoplasms showed striking polyphenotypic immunoreactivity, including that for vimentin, glial fibrillary acidic protein, epithelial membrane antigen, cytokeratins, synaptophysin, chromogranin, and smooth muscle actin. Using a probe for chromosome 22, seven of eight scorable cases showed a solitary signal by fluorescence in situ hybridization (FISH) consistent with monosomy 22. The eighth scorable case showed three signals by fluorescence in situ hybridization and had a translocation involving chromosome 22 reported by conventional cytogenetics. In contrast to patients with medulloblastoma, the neoplasm with which these lesions are often confused, the outcome of the patients was uniformly poor. The mean postoperative survival of patients with atypical teratoid/rhabdoid tumors was only 11 months. Local recurrence, seeding of the cerebrospinal fluid pathways, or both, were common terminal events. This study underscores the distinctive clinical, histopathologic, immunohistochemical, and cytogenetic character of this unusually aggressive tumor.

KW - Atypical teratoid/rhabdoid tumor

KW - Children

KW - Embryonal tumors

KW - Medulloblastoma

KW - Primitive neuroectodermal tumor

KW - Rhabdoid tumor

UR - http://www.scopus.com/inward/record.url?scp=0031680298&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0031680298&partnerID=8YFLogxK

U2 - 10.1097/00000478-199809000-00007

DO - 10.1097/00000478-199809000-00007

M3 - Article

C2 - 9737241

AN - SCOPUS:0031680298

VL - 22

SP - 1083

EP - 1092

JO - American Journal of Surgical Pathology

JF - American Journal of Surgical Pathology

SN - 0147-5185

IS - 9

ER -