Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4

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 patients 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.

卵巢高钙型小细胞癌（SCCOHT）是一种罕见且侵袭性极高的癌症，主要影响儿童及年轻女性。在本研究中，我们发现75%的SCCOHT患者（12例中的9例）存在SWI/SNF染色质重塑基因SMARCA4的胚系和体细胞失活突变，此外，在82%的SCCOHT肿瘤（17例中的14例）中观察到SMARCA4蛋白的丢失，而在其他原发性卵巢肿瘤中，这一比例仅为0.4%（485例中的2例）。这些数据表明SMARCA4在SCCOHT的致癌过程中发挥着关键作用。