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

Karlsson Jenny | Zendy; Valind Anders | Zendy; Gisselsson David | Zendy

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

Author(s) -

Karlsson Jenny,

Valind Anders,

Gisselsson David

Publication year - 2016

Publication title -

genes, chromosomes and cancer

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.754

H-Index - 119

eISSN - 1098-2264

pISSN - 1045-2257

DOI - 10.1002/gcc.22316

Subject(s) - gene duplication , tandem exon duplication , cancer research , fusion gene , sarcoma , biology , gene , medicine , genetics , pathology

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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