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Endometrial stromal sarcomas with BCOR‐rearrangement harbor MDM2 amplifications

30 Apr 2020

Abstract excerpt

Recently a novel subtype of endometrial stromal sarcoma (ESS) defined by recurrent genomic alterations involving BCOR has been described (HGESS-BCOR). We identified a case of HGESS-BCOR with a ZC3H7B-BCOR gene fusion, which harbored an amplification of the MDM2 locus. This index case prompted us to investigate MDM2 amplification in four additional cases of HGESS-BCOR. Tumors were analyzed for MDM2 amplification...

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PMID: 32352245
DOI: 10.1002/cjp2.165

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