Supratentorial primitive neuroectodermal tumors of the central nervous system in adults: molecular and histopathologic analysis of 12 cases

Am J Surg Pathol. 2011 Apr;35(4):573-82. doi: 10.1097/PAS.0b013e31820f1ce0.

Abstract

Advances in understanding the molecular basis of primitive neuroectodermal tumors of the central nervous system (CNS-PNET) biology are critical to improve patient outcome. Recently, new data on their molecular features have been reported, suggesting that supratentorial PNET (s-PNET) in adult patients may represent a specific tumor entity among CNS-PNETs. In this study, we analyzed the clinicopathologic and molecular features of 12 cases of s-PNET in adult patients. The follow-up analysis showed that these tumors have an aggressive clinical behavior. At the histopathologic level, they resembled their pediatric counterpart, showing a variable spectrum of neuronal differentiation. These cases did not show astrocytic differentiation; therefore, they did not qualify for the differential diagnosis of glioblastoma variants. The tumors were also screened for mutation of TP53, IDH1, IDH2, and β-catenin, using single strand conformation polymorphism-based and sequencing assays, and were analyzed for c-myc/N-myc gene copy numbers with a quantitative polymerase chain reaction-based method. The strand conformation polymorphism-based mutational analysis showed that 5 tumors harbored TP53 mutations. In 2 cases, a mutation at codon 132 of the IDH1 gene was also found. No mutations of the β-catenin or IDH2 genes were identified. No cases presented c-myc or N-myc amplifications. Only 1 case presented overexpression of epidermal growth factor receptor. In conclusion, our data show a high incidence of TP53 mutations in this group of tumors and show, in comparison with pediatric s-PNET, the absence of amplification of the c-myc/N-myc genes, indicating that s-PNET in adult patients may represent a specific subset of tumors among CNS-PNETs.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Combined Modality Therapy
  • DNA Mutational Analysis
  • DNA, Neoplasm / analysis
  • DNA, Neoplasm / genetics
  • Fatal Outcome
  • Female
  • Genes, myc
  • Humans
  • Isocitrate Dehydrogenase / genetics
  • Isocitrate Dehydrogenase / metabolism
  • Male
  • Middle Aged
  • Mutation
  • N-Myc Proto-Oncogene Protein
  • Neuroectodermal Tumors, Primitive / genetics
  • Neuroectodermal Tumors, Primitive / pathology*
  • Neuroectodermal Tumors, Primitive / therapy
  • Nuclear Proteins / genetics
  • Oncogene Proteins / genetics
  • Polymorphism, Single-Stranded Conformational
  • Supratentorial Neoplasms / genetics
  • Supratentorial Neoplasms / pathology*
  • Supratentorial Neoplasms / therapy
  • Tumor Suppressor Protein p53 / genetics
  • Tumor Suppressor Protein p53 / metabolism

Substances

  • DNA, Neoplasm
  • MYCN protein, human
  • N-Myc Proto-Oncogene Protein
  • Nuclear Proteins
  • Oncogene Proteins
  • TP53 protein, human
  • Tumor Suppressor Protein p53
  • Isocitrate Dehydrogenase
  • IDH1 protein, human