Ning Ying-Ze, Liu Guan-Yi, Rao Xiao-Long, Ma Yong-Chen, Rong Long
Department of Endoscopy Center, Peking University First Hospital, Beijing 100032, China.
World J Clin Cases. 2022 Mar 16;10(8):2644-2649. doi: 10.12998/wjcc.v10.i8.2644.
Serrated polyposis syndrome (SPS) is a relatively rare disease that is characterized by multiple serrated lesions/polyps. Very little is known regarding the extracolonic cancers associated with SPS. The genetic basis of the process remains unknown.
A 67-year-old male patient initially presented with belching and abdominal distension for a year as well as diarrhea for over 2 mo. The patient underwent colonoscopy and was diagnosed with serrated polyposis syndrome. Half a year later, a gastroscopy was performed during the postoperative re-examination to screen for other lesions of the upper gastrointestinal tract. An elevated lesion was detected in the anterior wall of the gastric antrum. Curative resection of the lesion was achieved endoscopic submucosal dissection. The pathological result was high-grade dysplasia with focal intramucosal carcinoma. Exome sequencing was performed for the patient and five gastric cancer-associated variants (methylenetetrahydrofolate reductase, metaxin 1, coiled-coil domain containing 6, glutamate ionotropic receptor delta type subunit 1, and aldehyde dehydrogenase 1) were identified.
This paper reports a case that presented with both SPS and early gastric cancer. Genetic mutations that were potentially responsible for this condition were sought by exome sequencing.
锯齿状息肉综合征（SPS）是一种相对罕见的疾病，其特征为多发锯齿状病变/息肉。关于与SPS相关的结肠外癌症知之甚少。该过程的遗传基础尚不清楚。
一名67岁男性患者最初出现嗳气、腹胀1年，腹泻2个多月。患者接受结肠镜检查，被诊断为锯齿状息肉综合征。半年后，术后复查时行胃镜检查以筛查上消化道其他病变。在胃窦前壁检测到一个隆起性病变。通过内镜黏膜下剥离术对病变进行了根治性切除。病理结果为高级别异型增生伴局灶性黏膜内癌。对该患者进行了外显子组测序，鉴定出五个与胃癌相关的变异（亚甲基四氢叶酸还原酶、变移蛋白1、含卷曲螺旋结构域6、离子型谷氨酸受体δ型亚基1和醛脱氢酶1）。
本文报道了一例同时患有SPS和早期胃癌的病例。通过外显子组测序寻找可能导致这种情况的基因突变。
