Central nervous system primitive neuroectodermal tumors: A clinicopathologic and genetic study of 33 cases

Amir Behdad, Arie Perry*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

55 Scopus citations


Central nervous system (CNS) primitive neuroectodermal tumors (PNETs) include supratentorial, brain stem, and spinal cord tumors with medulloblastoma-like histopathology. The prognostic impact of various pathologic and genetic features has not been thoroughly investigated. 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. Anaplastic and/or large cell features were seen in 18 of 33 (55%) examples and survival was decreased in these patients (P = 0.036). MYCN or MYCC gene amplifications were noted in about half, with a trend towards decreased survival (P = 0.112). Polysomies of chromosomes 2 and 8 were each individually associated with decreased survival in children, with an even stronger association when combined (P = 0.013). Neither EWS gene rearrangements, nor AT/RT-like 22q deletions were encountered. We conclude that in CNS PNET: (i) routine application of INI1 immunohistochemistry helps rule out AT/RT, particularly in infants; (ii) MYC gene amplifications (especially MYCN) are common; (iii) involvement of CNS parenchyma by Ewing sarcoma/peripheral PNET is rare enough that EWS gene testing is not necessary unless significant dural involvement is present; and (iv) both anaplastic/large cell features and polysomies of 2 and 8 are associated with more aggressive clinical behavior.

Original languageEnglish (US)
Pages (from-to)441-450
Number of pages10
JournalBrain Pathology
Issue number2
StatePublished - Mar 2010


  • Anaplasia
  • Fluorescence in situ hybridization
  • Medulloblastoma
  • Primitive neuroectodermal tumor
  • Prognosis

ASJC Scopus subject areas

  • Clinical Neurology
  • General Neuroscience
  • Pathology and Forensic Medicine


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