Research Papers:
Recurrent SKIL-activating rearrangements in ETS-negative prostate cancer
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Abstract
Matti Annala1,2,*, Kati Kivinummi1,2,*, Joonas Tuominen1,3, Serdar Karakurt1,3, Kirsi Granberg1,2, Leena Latonen1,3, Antti Ylipää1,2, Liisa Sjöblom1,3, Pekka Ruusuvuori1,2, Outi Saramäki1,3, Kirsi M. Kaukoniemi1,3, Olli Yli-Harja2, Robert L. Vessella4, Teuvo L.J. Tammela5, Wei Zhang6, Tapio Visakorpi1,3 and Matti Nykter1,2
1 Institute of Biosciences and Medical Technology - BioMediTech, University of Tampere, Tampere, Finland
2 Institute of Biosciences and Medical Technology - BioMediTech, Tampere University of Technology, Tampere, Finland
3 Fimlab Laboratories, Tampere University Hospital, Tampere, Finland
4 Department of Urology, University of Washington, Seattle, WA, USA
5 Department of Urology, Tampere University Hospital and Medical School, University of Tampere, Tampere, Finland
6 Department of Pathology, University of Texas M.D. Anderson Cancer Center, Houston, TX, USA
* These authors contributed equally to this work
Correspondence:
Matti Nykter, email:
Tapio Visakorpi, email:
Keywords: prostate cancer, sequencing, fusion gene, SKIL
Received: October 27, 2014 Accepted: January 15, 2015 Published: January 31, 2015
Abstract
Prostate cancer is the third most common cause of male cancer death in developed countries, and one of the most comprehensively characterized human cancers. Roughly 60% of prostate cancers harbor gene fusions that juxtapose ETS-family transcription factors with androgen regulated promoters. A second subtype, characterized by SPINK1 overexpression, accounts for 15% of prostate cancers. Here we report the discovery of a new prostate cancer subtype characterized by rearrangements juxtaposing the SMAD inhibitor SKIL with androgen regulated promoters, leading to increased SKIL expression. SKIL fusions were found in 6 of 540 (1.1%) prostate cancers and 1 of 27 (3.7%) cell lines and xenografts. 6 of 7 SKIL-positive cancers were negative for ETS overexpression, suggesting mutual exclusivity with ETS fusions. SKIL knockdown led to growth arrest in PC-3 and LNCaP cell line models of prostate cancer, and its overexpression led to increased invasiveness in RWPE-1 cells. The role of SKIL as a prostate cancer oncogene lends support to recent studies on the role of TGF-β signaling as a rate-limiting step in prostate cancer progression. Our findings highlight SKIL as an oncogene and potential therapeutic target in 1-2% of prostate cancers, amounting to an estimated 10,000 cancer diagnoses per year worldwide.
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