Germline mutations in the E-cadherin gene, CDH1, were recently identified in families with hereditary diffuse gastric cancer. The efficacy of endoscopic surveillance by current methods is largely ineffective because most tumors spread diffusely. There has been little evidence that prophylactic gastrectomy should be performed in patients with the genetic mutation, and few data are available on the outcomes of operations in patients with the CDH1 mutation undergoing prophylactic gastrectomy. We report the outcomes of patients with the CDH1 mutation who have undergone prophylactic gastrectomy in the year 2003 to 2004.

After genetic counseling and informed consent, two patients underwent total gastrectomy with Roux-en-Y reconstruction. Demographic information, pedigree analysis, preoperative screening results, operative course, and postoperative data, including complications, were collected and reviewed for each patient.

Pathologic examination of the stomach revealed no evidence of in situ or invasive carcinoma. There were no operative complications. Both patients reported diarrhea and moderate weight loss. There were no other postoperative complications.

Prophylactic gastrectomy can be performed safely, without mortality or severe morbidity, in patients with CDH1 mutations, and should be curative in this population of patients.