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

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Abstract

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.

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  • Medical Genetics
  • Cancer and Oncology
Original languageEnglish
Pages (from-to)120-123
JournalGenes, Chromosomes and Cancer
Volume55
Issue number2
Publication statusPublished - 2016
Publication categoryResearch
Peer-reviewedYes