PDF(Pubmed)
Abstract：
Hereditary polyposis syndrome can be divided into three categories: Ade-nomatous, serrated, and hamartomatous polyps. Hamartomatous polyps, malformations of normal tissue presenting in a disorganized manner, are characterized by an autosomal dominant inheritance pattern. These syndromes exhibit hamartomatous gastrointestinal polyps in conjunction to extra-intestinal manifestations, which require conscientious and diligent monitoring. Peutz-Jeghers syndrome, Cowden syndrome, and juvenile polyposis syndrome are the most common displays of hamartomatous polyposis syndrome (HPS). Diagnosis can be pursued with molecular testing and endoscopic sampling. Early identification of these autosomal dominant pathologies allows to optimize malignancy sur-veillance, which helps reduce morbidity and mortality in both the affected patient population as well as at-risk family members. Endoscopic surveillance is an important pillar of prognosis and monitoring, with many patients eventually requiring surgical intervention. In this review, we discuss the diagnosis, surveillance, and management of HPS.
摘要：
遗传性息肉病综合征可分为三类：锯齿状,错构瘤息肉.错构瘤性息肉,以混乱的方式呈现的正常组织的畸形，以常染色体显性遗传模式为特征。这些综合征表现为错构瘤性胃肠息肉并伴有肠外表现，这需要认真和勤奋的监测。Peutz-Jeghers综合征,Cowden综合征,和青少年息肉病综合征是错构瘤性息肉病综合征（HPS）的最常见表现。可以通过分子检测和内窥镜采样进行诊断。这些常染色体显性病理的早期识别允许优化恶性肿瘤监测，这有助于降低受影响患者人群以及高危家庭成员的发病率和死亡率。内镜监测是预后和监测的重要支柱，许多患者最终需要手术干预。在这次审查中,我们讨论诊断，监视,和HPS的管理。
