Gene fusions in soft tissue tumors: Recurrent and overlapping pathogenetic themes.
Author
Summary, in English
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.
Department/s
- The genetics of soft tissue tumors
- Division of Clinical Genetics
- BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation
Publishing year
2016
Language
English
Pages
291-310
Publication/Series
Genes, Chromosomes and Cancer
Volume
55
Issue
4
Links
Document type
Journal article review
Publisher
John Wiley & Sons Inc.
Topic
- Medical Genetics
Status
Published
Research group
- The genetics of soft tissue tumors
ISBN/ISSN/Other
- ISSN: 1045-2257