TERT rearrangements are frequent in neuroblastoma and identify aggressive tumors

Linda J. Valentijn, Jan Koster, Danny A. Zwijnenburg, Nancy E. Hasselt, Peter van Sluis, Richard Volckmann, Max M. van Noesel, Rani E. George, Godelieve A. M. Tytgat, Jan J. Molenaar, Rogier Versteeg

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Whole-genome sequencing detected structural rearrangements of TERT in 17 of 75 high-stage neuroblastomas, with five cases resulting from chromothripsis. Rearrangements were associated with increased TERT expression and targeted regions immediately up-and downstream of TERT, positioning a super-enhancer close to the breakpoints in seven cases. TERT rearrangements (23%), ATRX deletions (11%) and MYCN amplifications (37%) identify three almost non-overlapping groups of high-stage neuroblastoma, each associated with very poor prognosis
Original languageEnglish
Pages (from-to)1411-+
JournalNature Genetics
Issue number12
Publication statusPublished - 2015

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