Germline E-cadherin gene mutations: is prophylactic total gastrectomy indicated?

摘要: BACKGROUND The CDH1 gene encodes E-cadherin, an epithelial cell adhesion molecule. Germline mutations recently were identified in families with hereditary diffuse gastric carcinoma a pattern suggestive of autosomal dominant inheritance incomplete penetrance. METHODS The proband was woman age 47 years strong family history carcinoma. A germline E-cadherin mutation this patient, her brother, and three first cousins. All five members underwent endoscopic evaluations, which negative for malignancy, elected to undergo prophylactic total gastrectomy Roux-en-Y esophagojejunostomy. RESULTS Pathologic examination the proband's stomach revealed several microscopic foci intramucosal signet ring adenocarcinoma cardia proximal body. Postgastrectomy specimens from brother cousins all showed various regions stomach. Immunoperoxidase studies performed on tissue these patients demonstrated diminished or absent reactivity cancerous mucosa. CONCLUSIONS Although as intervention, occult discovered patients. Thus, should be curative Based their successful outcomes lack efficacious surveillance methods carcinoma, may management choice carriers. However, undertaken cautiously because procedure associated considerable morbidity. Cancer 2001;92:181–7. © 2001 American Society.