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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.

Publication ,  Journal Article
Burger, PC; Yu, IT; Tihan, T; Friedman, HS; Strother, DR; Kepner, JL; Duffner, PK; Kun, LE; Perlman, EJ
Published in: Am J Surg Pathol
September 1998

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.

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Published In

Am J Surg Pathol

DOI

ISSN

0147-5185

Publication Date

September 1998

Volume

22

Issue

9

Start / End Page

1083 / 1092

Location

United States

Related Subject Headings

  • Teratoma
  • Rhabdoid Tumor
  • Pathology
  • Neoplasm Proteins
  • Male
  • Infant
  • In Situ Hybridization, Fluorescence
  • Humans
  • Female
  • Child, Preschool
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Burger, P. C., Yu, I. T., Tihan, T., Friedman, H. S., Strother, D. R., Kepner, J. L., … Perlman, E. J. (1998). 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. Am J Surg Pathol, 22(9), 1083–1092. https://doi.org/10.1097/00000478-199809000-00007
Burger, P. C., I. T. Yu, T. Tihan, H. S. Friedman, D. R. Strother, J. L. Kepner, P. K. Duffner, L. E. Kun, and E. J. Perlman. “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.Am J Surg Pathol 22, no. 9 (September 1998): 1083–92. https://doi.org/10.1097/00000478-199809000-00007.
Burger, P. C., et al. “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.Am J Surg Pathol, vol. 22, no. 9, Sept. 1998, pp. 1083–92. Pubmed, doi:10.1097/00000478-199809000-00007.
Burger PC, Yu IT, Tihan T, Friedman HS, Strother DR, Kepner JL, Duffner PK, Kun LE, Perlman EJ. 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. Am J Surg Pathol. 1998 Sep;22(9):1083–1092.

Published In

Am J Surg Pathol

DOI

ISSN

0147-5185

Publication Date

September 1998

Volume

22

Issue

9

Start / End Page

1083 / 1092

Location

United States

Related Subject Headings

  • Teratoma
  • Rhabdoid Tumor
  • Pathology
  • Neoplasm Proteins
  • Male
  • Infant
  • In Situ Hybridization, Fluorescence
  • Humans
  • Female
  • Child, Preschool