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Nat Genet. 2015 Dec;47(12):1411-4. doi: 10.1038/ng.3438. Epub 2015 Nov 2.

TERT rearrangements are frequent in neuroblastoma and identify aggressive tumors.

Author information

1
Department of Oncogenomics, Academic Medical Center, Amsterdam, the Netherlands.
2
Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.
3
Department of Pediatric Hematology/Oncology, Dana-Farber Cancer Institute and Boston Children's Hospital, Boston, Massachusetts, USA.
4
Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
5
Department of Pediatric Oncology, Academic Medical Center, Amsterdam, the Netherlands.

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.

PMID:
26523776
DOI:
10.1038/ng.3438
[Indexed for MEDLINE]

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