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

Brain Pathol. 2010 Mar;20(2):441-50. doi: 10.1111/j.1750-3639.2009.00314.x. Epub 2009 Jun 25.

Abstract

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.

MeSH terms

  • Adolescent
  • Adult
  • Aneuploidy
  • Brain Neoplasms / diagnosis
  • Brain Neoplasms / genetics*
  • Brain Neoplasms / pathology*
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 2
  • Chromosomes, Human, Pair 22
  • Chromosomes, Human, Pair 8
  • Female
  • Humans
  • Infant
  • Male
  • Middle Aged
  • N-Myc Proto-Oncogene Protein
  • Neuroectodermal Tumors, Primitive / diagnosis
  • Neuroectodermal Tumors, Primitive / genetics*
  • Neuroectodermal Tumors, Primitive / pathology*
  • Nuclear Proteins / genetics
  • Oncogene Proteins / genetics
  • RNA-Binding Protein EWS / genetics
  • Rhabdoid Tumor / diagnosis
  • Rhabdoid Tumor / genetics
  • Rhabdoid Tumor / pathology
  • Spinal Cord Neoplasms / diagnosis
  • Spinal Cord Neoplasms / genetics*
  • Spinal Cord Neoplasms / pathology*
  • Teratoma / diagnosis
  • Teratoma / genetics
  • Teratoma / pathology
  • Young Adult

Substances

  • MYCN protein, human
  • N-Myc Proto-Oncogene Protein
  • Nuclear Proteins
  • Oncogene Proteins
  • RNA-Binding Protein EWS