Genetic and Epigenetic Features of Rapidly Progressing IDH-Mutant Astrocytomas

J Neuropathol Exp Neurol. 2018 Jul 1;77(7):542-548. doi: 10.1093/jnen/nly026.

Abstract

IDH-mutant astrocytomas are significantly less aggressive than their IDH-wildtype counterparts. We analyzed The Cancer Genome Atlas dataset (TCGA) and identified a small group of IDH-mutant, WHO grade II-III astrocytomas (n = 14) with an unexpectedly poor prognosis characterized by a rapid progression to glioblastoma and death within 3 years of the initial diagnosis. Compared with IDH-mutant tumors with the typical, extended progression-free survival in a control group of age-similar patients, the tumors in the rapidly progressing group were characterized by a markedly increased level of overall copy number alterations ([CNA]; p = 0.006). In contrast, the mutation load was similar, as was the methylation pattern, being consistent with IDH-mutant astrocytoma. Two of the gliomas (14%) in the rapidly progressing, IDH-mutant group but none of the other grade II-III gliomas in the TCGA (n = 283) had pathogenic mutations in genes (FANCB and APC) associated with maintaining chromosomal stability. These results suggest that chromosomal instability can negate the beneficial effect of IDH mutations in WHO II-III astrocytomas. The mechanism of the increased CNA is unknown but in some cases appears to be due to mutations in genes with a role in chromosomal stability. Increased CNA could serve as a biomarker for tumors at risk for rapid progression.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Astrocytoma / genetics*
  • Astrocytoma / pathology*
  • Biomarkers
  • Brain Neoplasms / genetics*
  • Brain Neoplasms / pathology*
  • DNA Methylation / genetics
  • Disease Progression
  • Epigenesis, Genetic / genetics*
  • Female
  • Gene Dosage
  • Glioblastoma / pathology
  • Humans
  • Isocitrate Dehydrogenase / genetics*
  • Male
  • Mutation / genetics
  • Prognosis
  • Survival Analysis
  • Treatment Outcome

Substances

  • Biomarkers
  • IDH2 protein, human
  • Isocitrate Dehydrogenase
  • IDH1 protein, human