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

doi:10.1038/ng.3438

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^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

240 Citations (Scopus)

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.

Original language	English
Pages (from-to)	1411-1414
Number of pages	4
Journal	Nature Genetics
Volume	47
Issue number	12
DOIs	https://doi.org/10.1038/ng.3438
Publication status	Published - 1 Dec 2015
Externally published	Yes

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10.1038/ng.3438

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title = "TERT rearrangements are frequent in neuroblastoma and identify aggressive tumors",

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.",

author = "Valentijn, \{Linda J.\} and Jan Koster and Zwijnenburg, \{Danny A.\} and Hasselt, \{Nancy E.\} and \{Van Sluis\}, Peter and Richard Volckmann and \{Van Noesel\}, \{Max M.\} and George, \{Rani E.\} and Tytgat, \{Godelieve A.M.\} and Molenaar, \{Jan J.\} and Rogier Versteeg",

note = "Funding Information: This study was supported by grants from the Villa Joep Foundation, the Children Cancer-Free Foundation (KIKA) and the KWF/Netherlands Cancer Foundation and by a European Union European Research Council (ERC) Advanced grant to R. Versteeg. Publisher Copyright: {\textcopyright} 2015 Nature America, Inc. All rights reserved.",

year = "2015",

month = dec,

day = "1",

doi = "10.1038/ng.3438",

language = "English",

volume = "47",

pages = "1411--1414",

journal = "Nature Genetics",

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TY - JOUR

T1 - TERT rearrangements are frequent in neuroblastoma and identify aggressive tumors

AU - Valentijn, Linda J.

AU - Koster, Jan

AU - Zwijnenburg, Danny A.

AU - Hasselt, Nancy E.

AU - Van Sluis, Peter

AU - Volckmann, Richard

AU - Van Noesel, Max M.

AU - George, Rani E.

AU - Tytgat, Godelieve A.M.

AU - Molenaar, Jan J.

AU - Versteeg, Rogier

N1 - Funding Information: This study was supported by grants from the Villa Joep Foundation, the Children Cancer-Free Foundation (KIKA) and the KWF/Netherlands Cancer Foundation and by a European Union European Research Council (ERC) Advanced grant to R. Versteeg. Publisher Copyright: © 2015 Nature America, Inc. All rights reserved.

PY - 2015/12/1

Y1 - 2015/12/1

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/84949095445

U2 - 10.1038/ng.3438

DO - 10.1038/ng.3438

M3 - Article

C2 - 26523776

AN - SCOPUS:84949095445

SN - 1061-4036

VL - 47

SP - 1411

EP - 1414

JO - Nature Genetics

JF - Nature Genetics

IS - 12

ER -

TERT rearrangements are frequent in neuroblastoma and identify aggressive tumors

Abstract

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