Detection of multiple signet ring cell carcinomas using texture and color enhancement imaging led to a diagnosis of hereditary diffuse gastric cancer

Abstract

Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant cancer caused by CDH1 mutation. HDGC causes multiple signet ring cell carcinomas (SRCCs) throughout the stomach. Few reports exist on the endoscopic findings during screening endoscopy, leading to the diagnosis of HDGC in its early stages. Recently, a new image-enhancement endoscopy technique, texture and color enhancement imaging (TXI), has been developed to improve the visibility of early gastric cancer. To the best of our knowledge, the use of TXI leading to HDGC diagnosis has not been reported. In this report, TXI contributed to the diagnosis of HDGC, and the patient was treated with total gastrectomy. A 27-year-old woman with a family history of gastric cancer underwent esophagogastroduodenoscopy, which revealed two pale lesions in the lower body of the stomach. Histological examination of the biopsy specimen revealed SRCC and the patient was referred to our hospital for treatment. Multiple lesions were found in the lower body using TXI, and a targeted biopsy confirmed other SRCCs. We suspected her disease to be HDGC, and the patient underwent a total gastrectomy. Histopathology showed multiple SRCCs (>60), but no lymph node metastases. Genetic testing revealed CDH1 mutations. The final pathological stage of the tumor was pT1a(m) N0M0 Stage I. TXI may be helpful in detecting multiple SRCCs in patients with HDGC. Endoscopists should be aware of HDGC, and careful investigation of the entire stomach is required for patients with diffuse-type gastric cancer before treatment.