TCF12 is mutated in anaplastic oligodendroglioma

Nat Commun. 2015 Jun 12:6:7207. doi: 10.1038/ncomms8207.

Abstract

Anaplastic oligodendroglioma (AO) are rare primary brain tumours that are generally incurable, with heterogeneous prognosis and few treatment targets identified. Most oligodendrogliomas have chromosomes 1p/19q co-deletion and an IDH mutation. Here we analysed 51 AO by whole-exome sequencing, identifying previously reported frequent somatic mutations in CIC and FUBP1. We also identified recurrent mutations in TCF12 and in an additional series of 83 AO. Overall, 7.5% of AO are mutated for TCF12, which encodes an oligodendrocyte-related transcription factor. Eighty percent of TCF12 mutations identified were in either the bHLH domain, which is important for TCF12 function as a transcription factor, or were frameshift mutations leading to TCF12 truncated for this domain. We show that these mutations compromise TCF12 transcriptional activity and are associated with a more aggressive tumour type. Our analysis provides further insights into the unique and shared pathways driving AO.

Publication types

  • Research Support, Non-U.S. Gov't
  • Validation Study

MeSH terms

  • Basic Helix-Loop-Helix Transcription Factors / genetics*
  • Brain Neoplasms / genetics*
  • Down-Regulation
  • Humans
  • Mutation*
  • Oligodendroglioma / genetics*
  • Transcriptional Activation / genetics

Substances

  • Basic Helix-Loop-Helix Transcription Factors
  • TCF12 protein, human