BCOR internal tandem duplication and YWHAE-NUTM2B/E fusion are mutually exclusive events in clear cell sarcoma of the kidney.

Summary, in English

Clear cell sarcoma of the kidney (CCSK) is the second most common pediatric renal tumor. Two recurrent genetic aberrations have been described in CCSK. One is a fusion of YWHAE and NUTM2B/E, the other is an internal tandem duplication (ITD) in the BCOR gene. Here it is shown that YWHAE-NUTM2B/E fusion and the BCOR ITD are mutually exclusive events and activated different downstream signaling systems. This has important diagnostic implications and opens up for further mechanistic studies of CCSK pathogenesis. © 2015 Wiley Periodicals, Inc.

• Author: Jenny Karlsson; Anders Valind; David Gisselsson Nord
• Department/s: Division of Clinical Genetics; BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation
• Publishing year: 2016
• Language: English
• Pages: 120-123
• Publication/Series: Genes, Chromosomes and Cancer
• Volume: 55
• Issue: 2
• Links: http://www.ncbi.nlm.nih.gov/pubmed/26493387?dopt=Abstract; http://dx.doi.org/10.1002/gcc.22316
• Document type: Journal article
• Publisher: John Wiley & Sons Inc.
• Topic: Medical Genetics; Cancer and Oncology
• Status: Published
• ISBN/ISSN/Other: ISSN: 1045-2257