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Springer (part of Springer Nature), Acta Neuropathologica, 6(126), p. 917-929

DOI: 10.1007/s00401-013-1198-2

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TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma

Journal article published in 2013 by Marc Remke, A. Sorana Morrissy, Vijay Ramaswamy, John Peacock, David Jh H. Shih, Christian Koelsche, Paul A. Northcott ORCID, Nadia Hill, Florence Mg G. Cavalli, Marcel Kool, Xin Wang ORCID, Stephen C. Mack, Mark Barszczyk, A. Sorana Morrissy, Xiaochong Wu and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Telomerase reverse transcriptase (TERT) promoter mutations were recently shown to drive telomerase activity in various cancer types, including medulloblastoma. However, the clinical and biological implications of TERT mutations in medulloblastoma have not been described. Hence, we sought to describe these mutations and their impact in a subgroup-specific manner. We analyzed the TERT promoter by direct sequencing and genotyping in 466 medulloblastomas. The mutational distributions were determined according to subgroup affiliation, demographics, and clinical, prognostic, and molecular features. Integrated genomics approaches were used to identify specific somatic copy number alterations in TERT promoter-mutated and wild-type tumors. Overall, TERT promoter mutations were identified in 21 % of medulloblastomas. Strikingly, the highest frequencies of TERT mutations were observed in SHH (83 %; 55/66) and WNT (31 %; 4/13) medulloblastomas derived from adult patients. Group 3 and Group 4 harbored this alteration in