Surveillance Endoscopy in the Management of Hereditary Diffuse Gastric Cancer Syndrome

Abstract

Hereditary diffuse gastric cancer (HDGC) syndrome results from a germline CDH1 mutation, and microscopic foci of signet-ring carcinoma cells (SRCC) are present in nearly all gastrectomy specimens.¹ The lifetime risk of invasive gastric cancer (GC) has been thought to be 70%,² but recent data have suggested a lower risk of 37%.³ Prophylactic total gastrectomy is considered the standard of care, but many patients choose surveillance endoscopy instead. We sought to define the outcomes in CDH1-positive individuals who pursued endoscopic surveillance.