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

Onderzoeksoutput: Bijdrage aan tijdschrift › Artikel › peer review

337 Citaten (Scopus)

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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-2	Engels
Pagina's (van-tot)	1411-4
Aantal pagina's	4
Tijdschrift	Nature Genetics
Volume	47
Nummer van het tijdschrift	12
DOI's	https://doi.org/10.1038/ng.3438
Status	Gepubliceerd - dec 2015

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@article{eb518ac94f224f08aa463f4872edc281,

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. ",

keywords = "DNA Helicases/genetics, Gene Amplification, Gene Deletion, Gene Expression Regulation, Neoplastic, Gene Rearrangement, Genome, Human, High-Throughput Nucleotide Sequencing/methods, Humans, N-Myc Proto-Oncogene Protein, Neuroblastoma/genetics, Nuclear Proteins/genetics, Oncogene Proteins/genetics, Telomerase/genetics, Telomere/genetics, X-linked Nuclear Protein",

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",

year = "2015",

month = dec,

doi = "10.1038/ng.3438",

language = "English",

volume = "47",

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journal = "Nature Genetics",

issn = "1061-4036",

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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

PY - 2015/12

Y1 - 2015/12

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.

KW - DNA Helicases/genetics

KW - Gene Amplification

KW - Gene Deletion

KW - Gene Expression Regulation, Neoplastic

KW - Gene Rearrangement

KW - Genome, Human

KW - High-Throughput Nucleotide Sequencing/methods

KW - Humans

KW - N-Myc Proto-Oncogene Protein

KW - Neuroblastoma/genetics

KW - Nuclear Proteins/genetics

KW - Oncogene Proteins/genetics

KW - Telomerase/genetics

KW - Telomere/genetics

KW - X-linked Nuclear Protein

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

U2 - 10.1038/ng.3438

DO - 10.1038/ng.3438

M3 - Article

C2 - 26523776

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

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