幼年性息肉病综合征 (JPS) 是一种罕见的遗传性常染色体显性癌症易感综合征，由位于 SMAD4 或 BMPR1A 基因的种系致病变异 (PV) 引起。由于胃病变的演变，准确的临床和内镜表现仍不清楚。前瞻性地对 2007 年至 2020 年法国罕见消化性息肉病网络 (RENAPOL) 数据库中包含的 SMAD4 或 BMPR1A PV 患者的临床、内镜、遗传、病理数据进行了前瞻性研究收集这些数据是为了解决有关胃受累的不确定性。纳入了 36 名患者：25 名 (69.5%) 具有 SMAD4 PV，11 名具有 BMPR1A PV。对于 SMAD4 PV 携带者，纳入时的中位年龄为 43.0 岁 [范围 10-78]。在基线食管胃十二指肠镜检查 (EGD) 中，22/25 (88%) 表现出至少一处幼年性胃息肉，5/25 (20%) 有炎症性胃炎的宏观体征。早期胃病多位于贲门下方，随后进展至胃窦和胃体。在平均 55.0 个月的随访期间，12/25 的患者出现胃部疾病进展（即新发幼年息肉 (91.6%)、胃弥漫性受累 (41.6%)、炎症平坦进展 (25%)）。在 62 份活检中，2 名患者的 5 份（7.5%）样本中观察到低度不典型增生。 9 名携带者 (36%) 由于弥漫性胃受累或临床症状恶化而接受了胃切除术（平均年龄 47.2 岁）。在一份胃切除标本中发现胃腺癌（T1）。在 11 名 BMPR1A PV 患者中，2 名在基线 EGD 时患有胃错构瘤，没有不典型增生或症状。JPS 中的胃受累似乎在一生中呈进展性，起始于贲门区，主要涉及 SMAD4 PV 携带者。版权所有 © 2024 American胃肠内窥镜学会。由爱思唯尔公司出版。保留所有权利。

Juvenile Polyposis Syndrome (JPS) is a rare hereditary autosomal dominant cancer-predisposition syndrome caused by germline pathogenic variants (PV) located in SMAD4 or BMPR1A genes. Precise clinical and endoscopic presentation as the evolution of gastric lesions remain ill-known.Clinical, endoscopic, genetic, pathological data from patients with SMAD4 or BMPR1A PVs included between 2007 and 2020 in the French network on rare digestive polyposis (RENAPOL) database were prospectively collected to address uncertainties regarding gastric involvement.Thirty-six patients were included: 25 (69.5%) had SMAD4 PVs, 11 had BMPR1A PVs. For SMAD4 PV carriers, median age at inclusion was 43.0 years [range 10-78]. At baseline esophagogastroduodenoscopy (EGD), 22/25 (88%) exhibited at least one gastric juvenile polyp, 5/25 (20%) had macroscopic signs of inflammatory gastritis. Early gastric disease was mostly located under the cardia, then progressed to gastric antrum and body. During a mean follow-up period of 55.0 months, 12/25 had gastric disease progression (i.e. new juvenile polyps (91.6%), diffuse gastric involvement (41.6%), inflammatory flat progression (25%)). Among 62 biopsies, low-grade dysplasia was observed in 5 (7.5%) samples from 2 patients. Nine carriers (36%) underwent gastrectomy (mean age of 47.2 years) due to diffuse gastric involvement or worsening clinical symptoms. Gastric adenocarcinoma (T1) was found in one gastrectomy specimen. Among the 11 patients with BMPR1A PVs, 2 had gastric hamartomatomas at baseline EGD, none with dysplasia or symptoms.Gastric involvement in JPS appears to be progressive during life, initiating in the cardia area, and mostly concerns SMAD4 PV carriers.Copyright © 2024 American Society for Gastrointestinal Endoscopy. Published by Elsevier Inc. All rights reserved.