CDH1 种系变异携带者的结直肠肿瘤：一项多中心分析。
Colorectal Neoplasia in CDH1 Pathogenic Variant Carriers: A Multicenter Analysis.
机构信息
Division of Gastroenterology, Hepatology & Nutrition, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
Department of Internal Medicine, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
出版信息
Am J Gastroenterol. 2022 Nov 1;117(11):1877-1879. doi: 10.14309/ajg.0000000000001996. Epub 2022 Sep 6.
INTRODUCTION
Germline variants in CDH1 are associated with elevated risks of diffuse gastric cancer and lobular breast cancer. It is uncertain whether there is an increased risk of colorectal neoplasia.
METHODS
This was a retrospective analysis of colonoscopy outcomes in patients with germline CDH1 pathogenic/likely pathogenic variants.
RESULTS
Eighty-five patients were included with a mean age of 46.9 years. Initial colonoscopy found adenomatous polyps in 30 patients (35.3%), including advanced adenomas in 9 (10.6%). No colorectal cancers were identified on index or subsequent colonoscopies (when available).
DISCUSSION
CDH1 carriers have colorectal neoplasia identified at similar rates as in the general population. Despite potential difficulties after gastrectomy, colorectal cancer screening remains important in this population.
简介
CDH1 种系变异与弥漫性胃癌和乳腺小叶癌的风险增加相关。目前尚不确定结直肠肿瘤的风险是否增加。
方法
这是一项对携带 CDH1 种系致病性/可能致病性变异患者结肠镜检查结果的回顾性分析。
结果
共纳入 85 例患者，平均年龄为 46.9 岁。初始结肠镜检查发现 30 例（35.3%）患者存在腺瘤性息肉，其中 9 例（10.6%）为高级别腺瘤。在指数或后续结肠镜检查（如有）中未发现结直肠癌。
讨论
CDH1 携带者的结直肠肿瘤检出率与普通人群相似。尽管胃切除术后可能存在困难，但该人群仍需重视结直肠癌筛查。
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