文献检索，用中文搜 PubMed

BACKGROUND

Hereditary adenomatous polyposis syndromes, including familial adenomatous polyposis and other rare adenomatous polyposis syndromes, increase the lifetime risk of colorectal and other cancers.

METHODS

A team of 38 experts convened to update the 2008 European recommendations for the clinical management of patients with adenomatous polyposis syndromes. Additionally, other rare monogenic adenomatous polyposis syndromes were reviewed and added. Eighty-nine clinically relevant questions were answered after a systematic review of the existing literature with grading of the evidence according to Grading of Recommendations, Assessment, Development, and Evaluation methodology. Two levels of consensus were identified: consensus threshold (≥67% of voting guideline committee members voting either 'Strongly agree' or 'Agree' during the Delphi rounds) and high threshold (consensus ≥ 80%).

RESULTS

One hundred and forty statements reached a high level of consensus concerning the management of hereditary adenomatous polyposis syndromes.

CONCLUSION

These updated guidelines provide current, comprehensive, and evidence-based practical recommendations for the management of surveillance and treatment of familial adenomatous polyposis patients, encompassing additionally MUTYH-associated polyposis, gastric adenocarcinoma and proximal polyposis of the stomach and other recently identified polyposis syndromes based on pathogenic variants in other genes than APC or MUTYH. Due to the rarity of these diseases, patients should be managed at specialized centres.

背景

遗传性腺瘤性息肉病综合征，包括家族性腺瘤性息肉病和其他罕见的腺瘤性息肉病综合征，增加了结直肠癌和其他癌症的终身风险。

方法

一个由 38 名专家组成的团队聚集在一起，更新了 2008 年欧洲关于腺瘤性息肉病综合征患者临床管理的建议。此外，还对其他罕见的单基因腺瘤性息肉病综合征进行了审查和补充。在对现有文献进行系统回顾后，回答了 89 个与临床相关的问题，并根据推荐评估、制定和评价方法对证据进行了分级。通过德尔菲法两轮投票，确定了两种共识水平：共识阈值（指南委员会成员中有≥67%投票“强烈同意”或“同意”）和高阈值（共识≥80%）。