Distribution of TERT promoter mutations in pediatric and adult tumors of the nervous system

Christian Koelsche, Felix Sahm, David Capper, David Reuss, Dominik Sturm, David T.W. Jones, Marcel Kool, Paul A. Northcott, Benedikt Wiestler, Katja Bömer, Jochen Meyer, Christian Mawrin, Christian Hartmann, Michel Mittelbronn, Michael Platten, Benjamin Brokinkel, Marcel Seiz, Christel Herold-Mende, Andreas Unterberg, Jens SchittenhelmMichael Weller, Stefan Pfister, Wolfgang Wick, Andrey Korshunov, Andreas Von Deimling*

*Corresponding author for this work

Research output: Contribution to journalArticleResearchpeer-review

251 Citations (Scopus)


Hot spot mutations in the promoter region of telomerase reverse transcriptase (TERT) have recently been described in several human tumor entities. These mutations result in an upregulation of the telomerase complex activity and thus constitute a relevant mechanism for immortalization of tumor cells. Knowledge of the TERT promoter status in tumors is likely to be of interest for molecular classification and as a potential target for therapy. We, therefore, performed a systematic analysis of TERT promoter mutations in 1,515 tumors of the human nervous system and its coverings including 373 pediatric and 1,142 adult patients. We detected a total of 327 mutations. TERT promoter mutations were exceedingly rare in tumors typically encountered in pediatric patients. In entities typically encountered in adult patients TERT promoter mutations were strongly associated with older age (p < 0.0001). Highest mutation frequencies were detected in gliosarcomas (81 %), oligodendrogliomas (78 %), oligoastrocytomas (58 %), primary glioblastomas (54 %), and solitary fibrous tumors (50 %). Related to other molecular alterations, TERT promoter mutations were strongly associated with 1p/19q loss (p < 0.0001), but inversely associated with loss of ATRX expression (p < 0.0001) and IDH1/IDH2 mutations (p < 0.0001). TERT promoter mutations are typically found in adult patients and occur in a highly tumor typeassociated distribution.

Original languageEnglish
Pages (from-to)907-915
Number of pages9
JournalActa Neuropathologica
Issue number6
Publication statusPublished - Dec 2013
Externally publishedYes


  • Astrocytoma
  • Brain tumor
  • Glioblastoma
  • Medulloblastoma
  • Meningioma
  • Mutation
  • Oligodendroglioma
  • Pediatric
  • Promoter
  • TERT


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