PDF(Pubmed)
Abstract：
SMARCA4 (BRG1)-deficient undifferentiated carcinoma is a rare and highly aggressive malignancy. It has been reported to occur in a multiple range of organs. However, to the best of our knowledge, SMARCA4 (BRG1)-deficient undifferentiated carcinoma of gallbladder has not yet been reported. Here, we describe a case of SMARCA4 (BRG1)-deficient undifferentiated carcinoma of gallbladder. Through comprehensive genetic analysis, we hypothesized that in addition to SMARCA4 (BRG1) deficiency, other genetic changes might also be involved in the tumorigenesis of undifferentiated gallbladder cancer in this patient, particularly somatic mutations in the CTNNB1, KRAS, PIK3CA, TP53, CREBBP, and FANCI genes. To the best of our knowledge, this is the first report of SMARCA4 (BRG1)-deficient undifferentiated carcinoma of gallbladder with genetic analysis.
摘要：
SMARCA4（BRG1）缺陷型未分化癌是一种罕见且高度侵袭性的恶性肿瘤。据报道，它发生在多个范围的器官中。然而,据我们所知,SMARCA4（BRG1）缺陷型胆囊癌尚未见报道。这里,我们描述了一例SMARCA4（BRG1）缺陷型胆囊癌。通过全面的遗传分析,我们假设除了SMARCA4(BRG1)缺乏症之外，其他遗传变化也可能参与该患者未分化胆囊癌的肿瘤发生，特别是CTNNB1，KRAS中的体细胞突变，PIK3CA,TP53,CREBBP,和FANCI基因。据我们所知,这是SMARCA4（BRG1）缺陷型胆囊癌基因分析的首次报道。
