Hereditary Diffuse Gastric Cancer Treated by Prophylactic Total Gastrectomy

• Published in: Internal Medicine Vol. 63; no. 2; pp. 235 - 239
• Main Authors: Inaba, Yasunori, Goda, Kenichi, Kondo, Masayuki, Abe, Keiichiro, Kanamori, Akira, Suzuki, Tsunehiro, Tominaga, Keiichi, Nakagawa, Masatoshi, Morita, Shinji, Kojima, Kazuyuki, Ishida, Kazuyuki, Irisawa, Atsushi
• Format: Journal Article
• Language: English
• Published: Japan The Japanese Society of Internal Medicine 15.01.2024; Japan Science and Technology Agency
• Subjects: Biopsy; Carcinoma; Case Report; CDH1; E-cadherin; endoscopic submucosal dissection; Gastrectomy; Gastric cancer; Genetic screening; hereditary diffuse gastric cancer; Lamina propria; prophylactic gastrectomy; signet ring cell carcinoma; prophylactic gastrectomy; endoscopic submucosal dissection; hereditary diffuse gastric cancer; signet ring cell carcinoma; CDH1
• ISSN: 0918-2918; 1349-7235
• DOI: 10.2169/internalmedicine.1257-22

We herein report a rare case of hereditary diffuse gastric cancer in a Japanese man. A 41-year-old man underwent esophagogastroduodenoscopy which revealed a small gastric erosion. Biopsy specimens showed signet ring cell carcinoma, and endoscopic submucosal dissection was performed. The patient's elder sister had died of gastric cancer at 38 years old. Considering the family history, a genetic test was conducted and revealed a CDH1 germline mutation. Although no carcinomatous lesion was detected endoscopically, prophylactic total gastrectomy was performed. The resection specimen showed seven microlesions of signet ring cell carcinoma confined to the lamina propria mucosae.