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Gene fusions in soft tissue tumors: Recurrent and overlapping pathogenetic themes.

Mertens, Fredrik LU ; Antonescu, Cristina R and Mitelman, Felix LU (2016) In Genes, Chromosomes and Cancer 55(4). p.291-310
Abstract
Gene fusions have been described in approximately one-third of soft tissue tumors (STT); of the 142 different fusions that have been reported, more than half are recurrent in the same histologic subtype. These gene fusions constitute pivotal driver mutations, and detailed studies of their cellular effects have provided important knowledge about pathogenetic mechanisms in STT. Furthermore, most fusions are strongly associated with a particular histotype, serving as ideal molecular diagnostic markers. In recent years, it has also become apparent that some chimeric proteins, directly or indirectly, constitute excellent treatment targets, making the detection of gene fusions in STT ever more important. Indeed, pharmacological treatment of STT... (More)
Gene fusions have been described in approximately one-third of soft tissue tumors (STT); of the 142 different fusions that have been reported, more than half are recurrent in the same histologic subtype. These gene fusions constitute pivotal driver mutations, and detailed studies of their cellular effects have provided important knowledge about pathogenetic mechanisms in STT. Furthermore, most fusions are strongly associated with a particular histotype, serving as ideal molecular diagnostic markers. In recent years, it has also become apparent that some chimeric proteins, directly or indirectly, constitute excellent treatment targets, making the detection of gene fusions in STT ever more important. Indeed, pharmacological treatment of STT displaying fusions that activate protein kinases, such as ALK and ROS1, or growth factors, such as PDGFB, is already in clinical use. However, the vast majority (52/78) of recurrent gene fusions create structurally altered and/or deregulated transcription factors, and a small but growing subset develops through rearranged chromatin regulators. The present review provides an overview of the spectrum of currently recognized gene fusions in STT, and, on the basis of the protein class involved, the mechanisms by which they exert their oncogenic effect are discussed. © 2015 Wiley Periodicals, Inc. (Less)
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author
organization
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type
Contribution to journal
publication status
published
subject
in
Genes, Chromosomes and Cancer
volume
55
issue
4
pages
291 - 310
publisher
John Wiley & Sons
external identifiers
  • pmid:26684580
  • scopus:84958750762
  • wos:000370168100001
ISSN
1045-2257
DOI
10.1002/gcc.22335
language
English
LU publication?
yes
id
e03022e0-c089-42fd-a278-152dbc14cd3c (old id 8504184)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/26684580?dopt=Abstract
date added to LUP
2016-01-06 11:28:01
date last changed
2017-10-22 04:51:05
@article{e03022e0-c089-42fd-a278-152dbc14cd3c,
  abstract     = {Gene fusions have been described in approximately one-third of soft tissue tumors (STT); of the 142 different fusions that have been reported, more than half are recurrent in the same histologic subtype. These gene fusions constitute pivotal driver mutations, and detailed studies of their cellular effects have provided important knowledge about pathogenetic mechanisms in STT. Furthermore, most fusions are strongly associated with a particular histotype, serving as ideal molecular diagnostic markers. In recent years, it has also become apparent that some chimeric proteins, directly or indirectly, constitute excellent treatment targets, making the detection of gene fusions in STT ever more important. Indeed, pharmacological treatment of STT displaying fusions that activate protein kinases, such as ALK and ROS1, or growth factors, such as PDGFB, is already in clinical use. However, the vast majority (52/78) of recurrent gene fusions create structurally altered and/or deregulated transcription factors, and a small but growing subset develops through rearranged chromatin regulators. The present review provides an overview of the spectrum of currently recognized gene fusions in STT, and, on the basis of the protein class involved, the mechanisms by which they exert their oncogenic effect are discussed. © 2015 Wiley Periodicals, Inc.},
  author       = {Mertens, Fredrik and Antonescu, Cristina R and Mitelman, Felix},
  issn         = {1045-2257},
  language     = {eng},
  number       = {4},
  pages        = {291--310},
  publisher    = {John Wiley & Sons},
  series       = {Genes, Chromosomes and Cancer},
  title        = {Gene fusions in soft tissue tumors: Recurrent and overlapping pathogenetic themes.},
  url          = {http://dx.doi.org/10.1002/gcc.22335},
  volume       = {55},
  year         = {2016},
}