TERT rearrangements are frequent in neuroblastoma and identify aggressive tumors.

There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

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.

Related collections

Author and article information

Journal

Journal ID (iso-abbrev): Nat. Genet.

Title: Nature genetics

Publisher: Springer Nature

ISSN (Electronic): 1546-1718

ISSN (Print): 1061-4036

Publication date (Electronic): Dec 2015

Volume: 47

Issue: 12

Affiliations

[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.

Article

Publisher Item ID: ng.3438

DOI: 10.1038/ng.3438

PubMed ID: 26523776

SO-VID: 75d2ac56-09af-4f5a-97f4-551269adabfe

History

Data availability:

Comments

Comment on this article

scite_

Cited by 157

See all cited by