Liu Yutong, Wang Zeyu, Zhang Zhongyu, Sun Yuanyuan, Zhang Yanyan, Yang Jiamei
Department of Oncology, The Second Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Front Oncol. 2023 Mar 6;13:1114097. doi: 10.3389/fonc.2023.1114097. eCollection 2023.
Juvenile polyposis syndrome (JPS) is a rare autosomal dominant disorder that is a type of hamartomatous polyp syndrome, and its incidence rate is approximately 1/100000. The main clinical feature is the presence of multiple juvenile polyps in the gastrointestinal tract, most often in the colorectal tract. We present a case of juvenile polyposis syndrome with massive gastric polyposis.
A 50-year-old male was admitted to the hospital due to abdominal distension and poor appetite. Gastroscopy revealed a large number of gastric polyps. Pathological findings revealed gastric juvenile polyps. Genetic testing revealed that he and his brother both carried : c.266_269del germline pathogenic variant. The final diagnosis was juvenile polyposis syndrome of the stomach. He once suffered from colon cancer and bladder cancer. One of his brothers died of colon cancer, and the other brother suffered from colon polyps.
Gastric involvement in juvenile polyposis syndrome is relatively rare. When massive gastric polyposis is found, gene detection should be carried out as soon as possible, so that rapid diagnosis and treatment can be obtained.
幼年性息肉病综合征（JPS）是一种罕见的常染色体显性疾病，属于错构瘤性息肉综合征，发病率约为1/100000。主要临床特征是胃肠道存在多个幼年性息肉，最常见于结直肠。我们报告一例伴有大量胃息肉的幼年性息肉病综合征病例。
一名50岁男性因腹胀、食欲差入院。胃镜检查发现大量胃息肉。病理结果显示为胃幼年性息肉。基因检测显示他和他的兄弟都携带：c.266_269del种系致病性变异。最终诊断为胃幼年性息肉病综合征。他曾患结肠癌和膀胱癌。他的一个兄弟死于结肠癌，另一个兄弟患有结肠息肉。
幼年性息肉病综合征累及胃部相对少见。当发现大量胃息肉时，应尽快进行基因检测，以便快速诊断和治疗。
