卵巢小细胞癌，嗜钙型，表现出 SMARCA4 的频繁失活种系和体细胞突变。
Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.
机构信息
1] Division of Integrated Cancer Genomics, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA. [2].
1] Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada. [2] Centre for Translational and Applied Genomics, British Columbia Cancer Agency, Vancouver, British Columbia, Canada. [3].
出版信息
Nat Genet. 2014 May;46(5):427-9. doi: 10.1038/ng.2928. Epub 2014 Mar 23.
Abstract
Small cell carcinoma of the ovary of hypercalcemic type (SCCOHT) is an extremely rare, aggressive cancer affecting children and young women. We identified germline and somatic inactivating mutations in the SWI/SNF chromatin-remodeling gene SMARCA4 in 75% (9/12) of SCCOHT cases in addition to SMARCA4 protein loss in 82% (14/17) of SCCOHT tumors but in only 0.4% (2/485) of other primary ovarian tumors. These data implicate SMARCA4 in SCCOHT oncogenesis.
摘要
卵巢小细胞癌伴高钙血症型（SCCOHT）是一种罕见且侵袭性强的癌症，主要影响儿童和年轻女性。我们在 75%（9/12）的 SCCOHT 病例中发现了 SWI/SNF 染色质重塑基因 SMARCA4 的胚系和体细胞失活突变，此外，82%（14/17）的 SCCOHT 肿瘤存在 SMARCA4 蛋白缺失，但在其他 0.4%（2/485）的原发性卵巢肿瘤中未见。这些数据表明 SMARCA4 参与了 SCCOHT 的肿瘤发生。
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