2022 Volume 64 Issue 7 Pages 1339-1345
A 28-year-old woman presented to our department with a chief complaint of epigastric pain. Upper gastrointestinal endoscopy revealed multiple flat discolored areas in the posterior wall of the lesser curvature of the gastric angle, lesser curvature of the gastric antrum, and greater curvature of the lower body of the stomach. Pathological evaluation of the tissue biopsy sample suggested signet ring cell carcinoma. No evidence of Helicobacter pylori infection was observed in the background gastric mucosa. Based on the patientʼs age at the time of diagnosis and presence of multiple lesions, a probable diagnosis of hereditary diffuse gastric cancer was established; this was likely to be an isolated incident as the patient had no family history of this disorder. Accordingly, laparoscopic total gastrectomy was performed. Postsurgical pathological examination revealed 22 synchronous multiple intramucosal lesions, all of which had signet ring cell morphology. Genetic testing revealed a mutation in the gene encoding E-cadherin (CDH1), which led to the definitive diagnosis of hereditary diffuse gastric cancer. If a flat discolored area is found in the stomach of a young person not infected by H. pylori, it is important not to overlook multiple lesions and consider the possibility of hereditary diffuse gastric cancer.
