Hereditary diffuse gastric cancer: predominance of multiple foci of signet ring cell carcinoma in distal stomach and transitional zone

摘要: Background and aims: Germline mutations in the CDH-1 /E-cadherin gene are, to date, only known cause of hereditary diffuse gastric cancer (HDGC). While two recent series prophylactic gastrectomy described microscopic foci signet ring cell carcinoma sample sections from 10 macroscopically normal stomachs, whole stomach phenotype has not been mapped. We aimed describe size distribution relation mucosal zones anatomical location. Methods: Six patients (from three HDGC kindred) were referred for total via different referral pathways. Following fixation, five stomachs completely blocked one extensively sampled. Histopathology was mapped a photograph each stomach, enabling precise localisation foci, benign pathology, zones. Results: There 4–318 intramucosal adenocarcinoma six (foci 0.1–10 mm diameter). The distal third contained 48% (range 29–75%). body-antral transitional zone occupied 7.7% area 3.6–11.8) but had 37% 10%–75%). largest found density times greater than body or antral type mucosa. Conclusions: In germline mutation carriers, multiple show predilection zone. Targeting would maximise likelihood finding gastrectomies, particular attention should be paid this during endoscopy.