Hereditary diffuse gastric cancer associated with E-cadherin germline mutation: a case report

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