Published online Nov 14, 2020. doi: 10.3748/wjg.v26.i42.6689
Peer-review started: August 28, 2020
First decision: September 30, 2020
Revised: October 11, 2020
Accepted: October 26, 2020
Article in press: October 26, 2020
Published online: November 14, 2020
Hereditary diffuse gastric cancer (HDGC) is a familial cancer syndrome often associated with germline mutations in the CDH1 gene. However, the frequency of CDH1 mutations is low in patients with HDGC in East Asian countries. Herein, we report three cases of HDGC harboring a missense CDH1 variant, c.1679C>G, from a single Japanese family.
A 26-year-old female (Case 1) and a 51-year-old male (father of Case 1), who had a strong family history of gastric cancer, were diagnosed with advanced diffuse gastric cancer. After genetic counselling, a 25-year-old younger brother of Case 1 underwent surveillance esophagogastroduodenoscopy that detected small signet ring cell carcinoma foci as multiple pale lesions in the gastric mucosa. Genetic analysis revealed a CDH1 c.1679C>G variant in all three patients.
It is important for individuals suspected of having HDGC to be actively offered genetics evaluation. This report will contribute to an increased awareness of HDGC.
Core Tip: Hereditary diffuse gastric cancer (HDGC) has rarely been reported in East Asian countries. We report a Japanese HDGC family with a missense CDH1 variant, c.1679C>G (p.T560R). We clearly detected early signet ring cell carcinoma foci by esophagogastroduodenoscopy with white light imaging, non-magnifying narrow band imaging (NBI) and magnifying NBI. In this family, active genetics evaluation and intensive endoscopic surveillance resulted in early diagnosis and treatment of HDGC.