| Literature DB >> 26523776 |
Linda J Valentijn1, Jan Koster1, Danny A Zwijnenburg1, Nancy E Hasselt1, Peter van Sluis1, Richard Volckmann1, Max M van Noesel2, Rani E George3,4, Godelieve A M Tytgat2,5, Jan J Molenaar1, Rogier Versteeg1.
Abstract
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.Entities:
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Year: 2015 PMID: 26523776 DOI: 10.1038/ng.3438
Source DB: PubMed Journal: Nat Genet ISSN: 1061-4036 Impact factor: 38.330