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Genomic and transcriptomic characterization of desmoplastic small round cell tumors

Sydow, Saskia LU ; Versleijen-Jonkers, Yvonne M.H. ; Hansson, Magnus ; van Erp, Anke E.M. ; Hillebrandt-Roeffen, Melissa H.S. ; van der Graaf, Winette T.A. ; Piccinelli, Paul LU ; Rissler, Pehr LU ; Flucke, Uta E. and Mertens, Fredrik LU (2021) In Genes Chromosomes and Cancer 60(9). p.595-603
Abstract

Desmoplastic small round cell tumor (DSRCT) is a highly aggressive soft tissue tumor primarily affecting children and young adults. Most cases display a pathognomonic EWSR1-WT1 gene fusion, presumably constituting the primary driver event. Little is, however, known about secondary genetic changes that may affect tumor progression. We here studied 25 samples from 19 DSRCT patients using single nucleotide polymorphism arrays and found that all samples had copy number alterations. The most common imbalances were gain of chromosomes/chromosome arms 1/1q and 5/5p and loss of 6/6q and 16/16q, all occurring in at least eight of the patients. Five cases showed homozygous deletions, affecting a variety of known tumor suppressor genes, for... (More)

Desmoplastic small round cell tumor (DSRCT) is a highly aggressive soft tissue tumor primarily affecting children and young adults. Most cases display a pathognomonic EWSR1-WT1 gene fusion, presumably constituting the primary driver event. Little is, however, known about secondary genetic changes that may affect tumor progression. We here studied 25 samples from 19 DSRCT patients using single nucleotide polymorphism arrays and found that all samples had copy number alterations. The most common imbalances were gain of chromosomes/chromosome arms 1/1q and 5/5p and loss of 6/6q and 16/16q, all occurring in at least eight of the patients. Five cases showed homozygous deletions, affecting a variety of known tumor suppressor genes, for example, CDKN2A and NF1. As almost all patients died of their disease, the impact of individual imbalances on survival could not be evaluated. Global gene expression analysis using mRNA sequencing on fresh-frozen samples from seven patients revealed a distinct transcriptomic profile, with enrichment of genes involved in neural differentiation. Two genes - GJB2 and GAL - that showed higher expression in DSRCT compared to control tumors could be further investigated for their potential as diagnostic markers at the protein level.

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author
; ; ; ; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
genomics, sarcoma, transcriptomics
in
Genes Chromosomes and Cancer
volume
60
issue
9
pages
595 - 603
publisher
John Wiley & Sons Inc.
external identifiers
  • scopus:85105820173
  • pmid:33928700
ISSN
1045-2257
DOI
10.1002/gcc.22955
language
English
LU publication?
yes
id
865ad391-f44a-4125-92dc-b67e5fe5bff8
date added to LUP
2021-06-07 15:05:57
date last changed
2024-06-16 14:42:36
@article{865ad391-f44a-4125-92dc-b67e5fe5bff8,
  abstract     = {{<p>Desmoplastic small round cell tumor (DSRCT) is a highly aggressive soft tissue tumor primarily affecting children and young adults. Most cases display a pathognomonic EWSR1-WT1 gene fusion, presumably constituting the primary driver event. Little is, however, known about secondary genetic changes that may affect tumor progression. We here studied 25 samples from 19 DSRCT patients using single nucleotide polymorphism arrays and found that all samples had copy number alterations. The most common imbalances were gain of chromosomes/chromosome arms 1/1q and 5/5p and loss of 6/6q and 16/16q, all occurring in at least eight of the patients. Five cases showed homozygous deletions, affecting a variety of known tumor suppressor genes, for example, CDKN2A and NF1. As almost all patients died of their disease, the impact of individual imbalances on survival could not be evaluated. Global gene expression analysis using mRNA sequencing on fresh-frozen samples from seven patients revealed a distinct transcriptomic profile, with enrichment of genes involved in neural differentiation. Two genes - GJB2 and GAL - that showed higher expression in DSRCT compared to control tumors could be further investigated for their potential as diagnostic markers at the protein level.</p>}},
  author       = {{Sydow, Saskia and Versleijen-Jonkers, Yvonne M.H. and Hansson, Magnus and van Erp, Anke E.M. and Hillebrandt-Roeffen, Melissa H.S. and van der Graaf, Winette T.A. and Piccinelli, Paul and Rissler, Pehr and Flucke, Uta E. and Mertens, Fredrik}},
  issn         = {{1045-2257}},
  keywords     = {{genomics; sarcoma; transcriptomics}},
  language     = {{eng}},
  month        = {{04}},
  number       = {{9}},
  pages        = {{595--603}},
  publisher    = {{John Wiley & Sons Inc.}},
  series       = {{Genes Chromosomes and Cancer}},
  title        = {{Genomic and transcriptomic characterization of desmoplastic small round cell tumors}},
  url          = {{http://dx.doi.org/10.1002/gcc.22955}},
  doi          = {{10.1002/gcc.22955}},
  volume       = {{60}},
  year         = {{2021}},
}