Indication for the prophylactic total gastrectomy in the hereditary diffuse gastric cancer in carriers of E-Cadherin mutation. Two observations

Aim : The germ-line truncating mutation in the E-Cadherin, CDH1, is identified in 30% of hereditary diffuse gastric cancer (CGDH). The tumors are characterized by a high penetrance with an autosomal dominant pattern of inheritance, predominantly in young people. The endoscopic surveillance, by current methods, is largely ineffective because most tumors are growing up diffusely and quickly. We report the outcomes of 2 asymptomatic patients with the CDH1 mutation who have undergone prophylactic total gastrectomy (GTP). Patients and methods: Two brothers 22 and 33 years old, belonging to a family severely altered by CGD, underwent prophylactic total gastrectomy with Roux en Y reconstruction. Results: Pathologic examination of the stomach shows no evidence of in situ or invasive carcinoma despite multiple samples. There were no operative complications. A 5-5 kg weight loss and diarrhea stabilised in a 3 month period. There were no more complications in the long term. Discussion: Four points are discussed: 1/ The preoperative endoscopic screening for visualisation of carcinoma microfoci and of gastric ectopia in oesophagus. 2/ The interest of the chromoendoscopic surveillance unfortunately limited by size of tumoral foci never detectable if inferior to 4mm. 3/ The precision of the surgical procedure needing a complete removal of gastric mucosa that means GTP in every case. 4/ Regular screening for malignancies of other organs related to the CDH1 mutation (breast, colon-rectum, prostate). 5/ A proposition of therapeutic decisions for CGDH. Conclusion. The GTP indication is often difficult to promote for asymptomatic patients, but the operation avoids any risk of gastric cancer. Nevertheless the GTP cannot dispense patients of regular polyvisceral surveillance.