TCF12 is mutated in anaplastic oligodendroglioma


  • Labreche Karim
  • Simeonova Iva
  • Kamoun Aurélie
  • Gleize Vincent
  • Chubb Daniel
  • Letouzé Eric
  • Riazalhosseini Yasser
  • Dobbins Sara E.
  • Elarouci Nabila
  • Ducray Francois
  • de Reyniès Aurélien
  • Zelenika Diana
  • Wardell Christopher P.
  • Frampton Mathew
  • Saulnier Olivier
  • Pastinen Tomi
  • Hallout Sabrina
  • Figarella-Branger Dominique
  • Dehais Caroline
  • Idbaih Ahmed
  • Mokhtari Karima
  • Delattre Jean-Yves
  • Huillard Emmanuelle
  • Lathrop G Mark
  • Sanson Marc
  • Houlston Richard S.

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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.

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