Department of Gastroenterology, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), University of Barcelona, Barcelona, Spain.
Department of Gastroenterology, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), University of Barcelona, Barcelona, Spain.
Best Pract Res Clin Gastroenterol. 2022 Jun-Aug;58-59:101791. doi: 10.1016/j.bpg.2022.101791. Epub 2022 Mar 16.
Serrated colorectal polyps, long considered innocent, are currently recognized as the precursors to one-third of all colorectal cancers (CRC). Serrated polyposis syndrome (SPS), characterized by accumulation of multiple and/or large serrated polyps, symbolizes the highest expression of serrated pathway of carcinogenesis, leading to a high risk of CRC when it is not detected or treated on time. Although previously considered uncommon, SPS is now acknowledged as the most prevalent colorectal polyposis. This syndrome has attracted increasing interest over the past decade and has become a hot topic in the field of gastrointestinal oncology. Besides a small proportion of cases caused by germline mutations in RNF43, no clear genetic cause has been identified. Both epigenetic and environmental factors, especially smoking, have been related to this syndrome, but the etiology of SPS remains uncertain and diagnosis is based on endoscopic criteria. Recent studies on SPS have focused on identifying the underlying risk-factors for CRC, defining the best endoscopic techniques for surveillance and establishing optimal preventive strategies aimed at reducing CRC-incidence without exposing patients to unnecessary procedures. The purpose of this chapter is to review, from a practical perspective, current knowledge and future directions in the diagnosis and management of serrated polyposis syndrome.
锯齿状结直肠息肉,长期以来被认为是良性的,目前被认为是所有结直肠癌(CRC)的三分之一的前体。锯齿状息肉病综合征(SPS)的特征是积累多个和/或大的锯齿状息肉,代表锯齿状致癌途径的最高表达,当未及时发现或治疗时,导致 CRC 的风险很高。尽管以前认为不常见,但 SPS 现在被认为是最常见的结直肠息肉病。在过去十年中,该综合征引起了越来越多的关注,并成为胃肠肿瘤学领域的一个热门话题。除了一小部分由 RNF43 种系突变引起的病例外,尚未确定明确的遗传原因。表观遗传和环境因素,尤其是吸烟,与该综合征有关,但 SPS 的病因仍不确定,诊断基于内镜标准。最近关于 SPS 的研究集中在确定 CRC 的潜在风险因素、确定最佳的监测内镜技术以及建立最佳的预防策略,以降低 CRC 的发病率,而不会使患者暴露于不必要的程序。本章的目的是从实用的角度回顾锯齿状息肉病综合征的诊断和管理的现有知识和未来方向。