息肉病综合征知多少？下一步该怎么做？
How many is too many? Polyposis syndromes and what to do next.
机构信息
Section of Gastroenterology, Hepatology and Nutrition, Department of Medicine, University of Chicago, Chicago, Illinois, USA.
出版信息
Curr Opin Gastroenterol. 2022 Jan 1;38(1):39-47. doi: 10.1097/MOG.0000000000000796.
PURPOSE OF REVIEW
The goal of this review is to help providers recognize, diagnose and manage gastrointestinal (GI) polyposis syndromes.
RECENT FINDINGS
Intestinal polyps include a number of histological sub-types such as adenomas, serrated, hamartomas among others. Over a quarter of individuals undergoing screening colonoscopy are expected to have colonic adenomas. Although it is not uncommon for adults to have a few GI polyps in their lifetime, some individuals are found to have multiple polyps of varying histology throughout the GI tract. In these individuals, depending on polyp histology, number, location and size as well as extra-intestinal features and/or family history, a polyposis syndrome should be considered with appropriate testing and management.
SUMMARY
Diagnosis and management of polyposis syndromes has evolved with advent of multigene panel testing and new data on optimal surveillance strategies. Evidence-based recommendations and current practice guidelines for polyposis syndromes are reviewed here. Areas of uncertainty and future research are also highlighted.
目的综述
本综述旨在帮助医务人员识别、诊断和处理胃肠道（GI）息肉病综合征。
最新发现
肠息肉包括多种组织学亚型，如腺瘤、锯齿状、错构瘤等。预计在接受筛查性结肠镜检查的人群中，超过四分之一的人会有结肠腺瘤。尽管成年人一生中偶尔会长几个胃肠道息肉，但有些人在胃肠道内会发现多个不同组织学类型的息肉。在这些患者中，根据息肉的组织学、数量、位置和大小以及肠外特征和/或家族史，应考虑存在息肉病综合征，并进行适当的检查和处理。
总结
随着多基因面板检测的出现和最佳监测策略的新数据，息肉病综合征的诊断和处理已经发展。本文回顾了息肉病综合征的循证推荐和当前实践指南。同时还强调了一些不确定的领域和未来的研究方向。
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