Hereditary Diffuse Gastric Cancer Associated with E-cadherin Germline Mutation: A Case Report

摘要: Hereditary diffuse gastric cancer (HDGC) is an autosomal dominate syndrome that leads to increased risk of developing invasive type (signet ring cell) carcinoma. Approximately 30% HDGC cases are caused by a germline mutation involving the E-cadherin (CDH1) gene. Those with CDH1 have 80% and 60% cumulative lifetime carcinoma lobular breast respectively. Due focal nature early carcinoma, identifying lesions surveillance endoscopy limited. As result, elective risk-reducing total gastrectomy currently recommended. In this report, clinical, intraoperative, pathologic work-up reviewed regarding patient known mutation.