携带生殖系致病性CDH1变异体的个体患有家族性弥漫性胃癌高风险。在检测这种人群中的腺内细胞癌（SRCC）方面，食管胃十二指肠镜（EGD）的敏感性较低。我们旨在确定与检测SRCC相关的内窥镜发现和活检实践。这个回顾性队列研究涉及从2006年1月1日至2022年3月25日在Memorial Sloan Kettering癌症中心接受至少一项EGD的携带生殖系致病性/可能致病性CDH1变异体的个体。主要结局是在EGD上检测到的SRCC。还评估了胃切除术中的发现。该研究包括在实施剑桥协议进行内窥镜监测之前和之后的时间段，从而允许评估一系列活检实践。98个CDH1患者在我们的医院接受了至少一项EGD。总体上，在EGD上检测到20（20％）个人的SRCC，并在58名接受胃切除术的患者中检测到50/58（86％）。大多数SRCC灶都在胃贲门/胃底（EGD：50％，胃切除术：62％）和胃体/过渡区（EGD：60％，胃切除术：62％）中检测到。胃浅色粘膜区域的活检与SRCC的检测有关（P<0.01）。在EGD上采取的活检总数与SRCC的检测率增加有关（p = 0.01），当采取40个或更多活检时，检测率为43％。胃浅色粘膜区域的有针对性活检和采取更多EGD活检次数与检测SRCC有关。 SRCC灶大多数在近端胃中检测到，支持更新的内窥镜监测指南。需要进一步的研究以优化内窥镜监测方案，以提高高风险人群中SRCC的检测率。版权所有 © 2023美国胃肠内窥镜学会。由Elsevier Inc。保留所有权利。

Individuals with germline pathogenic CDH1 variants have a high risk of hereditary diffuse gastric cancer. Sensitivity of esophagogastroduodenoscopy (EGD) in detecting signet ring cell carcinoma (SRCC) in this population is low. We aimed to identify endoscopic findings and biopsy practices associated with detection of SRCC.This retrospective cohort included individuals with a germline pathogenic/likely pathogenic CDH1 variant undergoing at least one EGD at Memorial Sloan Kettering Cancer Center between January 1, 2006 and March 25, 2022. The primary outcome was detection of SRCC on EGD. Findings on gastrectomy were also assessed. The study included periods before and after implementation of the Cambridge protocol for endoscopic surveillance, allowing for assessment of a spectrum of biopsy practices.Ninety-eight CDH1 patients underwent at least one EGD at our institution. SRCC was detected in 20 (20%) individuals on EGD overall, and in 50/58 (86%) of those undergoing gastrectomy. Most SRCC foci were detected in the gastric cardia/fundus (EGD: 50%, gastrectomy: 62%) and body/transition zone (EGD: 60%, gastrectomy: 62%). Biopsies of gastric pale mucosal areas were associated with detection of SRCC (p<0.01). The total number of biopsies taken on EGD was associated with increased detection of SRCC (p=0.01), with 43% detected when 40 or more biopsies were taken.Targeted biopsies of gastric pale mucosal areas and increasing number of biopsies taken on EGD were associated with detection of SRCC. SRCC foci were mostly detected in the proximal stomach, supporting updated endoscopic surveillance guidelines. Further studies are needed to refine endoscopic protocols to improve SRCC detection in this high-risk population.Copyright © 2023 American Society for Gastrointestinal Endoscopy. Published by Elsevier Inc. All rights reserved.