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已知上皮型钙黏蛋白(E-cadherin,E-cd)与肿瘤的发生、侵袭和转移有关,其编码基因CDH1胚系突变是发生遗传性弥漫型胃癌(Hereditary Diffuse Gastric Carcinoma,HDGC)的遗传学基础,体细胞突变、杂和性缺失或启动子甲基化等扮演了“二次打击”角色,导致HDGC发病。结合HDGC诊断标准和遗传学检查可检出CDH1携带者,对CDH1携带者虽可行预防性全胃切除和胃镜筛查处理,但需结合突变类型和个体情况慎重处理。本文对HDGC的发病机制及其临床处理进行了综述。
E-cadherin (E-cd) is known to be involved in the development, invasion and metastasis of tumors. The germline mutation of CDH1 gene is the inheritance of Hereditary Diffuse Gastric Carcinoma (HDGC) The basis of learning, somatic mutations, loss of heterozygosity, or promoter methylation play a “secondary hit” role, leading to the onset of HDGC. Combined with HDGC diagnostic criteria and genetic tests can be detected CDH1 carriers, CDH1 carriers although feasible preventive total gastrectomy and endoscopy screening, but need to be combined with the type of mutation and individual careful treatment. This article reviews the pathogenesis of HDGC and its clinical treatment.