Division of Gastroenterology, Department of Gastroenterology, Humanitas Research Hospital - IRCCs, Rozzano, Milan, Italy.
Department of Medicine and Surgery, University of Parma, Parma, Italy.
Best Pract Res Clin Gastroenterol. 2022 Jun-Aug;58-59:101799. doi: 10.1016/j.bpg.2022.101799. Epub 2022 Apr 4.
Juvenile polyposis syndrome (JPS) is a rare precancerous condition that confers an increased risk of developing gastrointestinal cancers. The inheritance pattern is autosomal dominant. JPS should be clinically suspected when the other hamartomatous polyposis syndromes are excluded (i.e., Peutz- Jeghers and Cowden), in presence of numerous juvenile polyps in the colorectum or in other GI locations. Among the syndromic features, JPS can present with concomitant extra-intestinal manifestations, above all cutaneous manifestations such as telangiectasia, pigmented nevi, and skeletal stigmata. Pathogenic germline variants of either BMPR1A or SMAD4 cause the syndrome. In JPS a cumulative risk of CRC of 39-68% has been estimated. The oncological risk justifies and imposes prevention strategies that aim at the cancer risk reduction through endoscopic screening, as recommended by international scientific societies. The aim of this review is to summarize clinical and genetic features of JPS and to elucidate the steps of the clinical management from diagnosis to surveillance.
幼年性息肉综合征（JPS）是一种罕见的癌前状态，可增加罹患胃肠道癌症的风险。遗传模式为常染色体显性遗传。当排除其他错构瘤性息肉综合征（即 Peutz-Jeghers 和 Cowden），且存在大量结直肠或其他胃肠道部位的幼年性息肉时，应临床怀疑 JPS。在综合征特征中，JPS 可伴有伴发的肠外表现，主要是皮肤表现，如毛细血管扩张、色素痣和骨骼标记。BMPR1A 或 SMAD4 的种系致病性变异导致该综合征。在 JPS 中，CRC 的累积风险估计为 39-68%。肿瘤风险证明并需要预防策略，通过国际科学协会推荐的内镜筛查来降低癌症风险。本综述的目的是总结 JPS 的临床和遗传特征，并阐明从诊断到监测的临床管理步骤。
