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

Onderzoeksoutput: Bijdrage aan tijdschriftArtikelpeer review

Samenvatting

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.

Originele taal-2Engels
Pagina's (van-tot)1411-4
Aantal pagina's4
TijdschriftNature Genetics
Volume47
Nummer van het tijdschrift12
DOI's
StatusGepubliceerd - dec. 2015

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