Inherited CDH1 pathogenic variant: is there a place for surveillance of esophageal gastric inlet patch?

Keywords: Hereditary diffuse gastric cancer; CDH1; Signet ring cell carcinoma EN Hereditary diffuse gastric cancer CDH1 Signet ring cell carcinoma 1 2 2 01/06/21 20200101 NES 200101 Introduction Inherited CDH1 pathogenic variants cause Hereditary Diffuse Gastric Cancer (HDGC) syndrome, a disease with very poor prognosis.[1] Carriers of such variants present an estimated lifetime risk of gastric signet ring cell carcinoma (SRCC) of 70% in men and 56% in women, by the age of 80 years old.[2] Although risk reduction gastrectomy is the indicated procedure for disease prevention in pre-symptomatic mutation carriers, some carriers opt for delaying surgery and undergo regular endoscopic surveillance. When using a strict endoscopic surveillance protocol (focal visible lesion and random biopsy sampling), SRCC detection rate yield is approximately 60% in CDH1 mutation carriers.[3] In this letter, we wish to call the attention to cervical esophageal gastric inlet patches (GIPs). [Extracted from the article]