遗传性大肠癌的筛查与随访策略优化

Optimization of screening and follow-up strategies for hereditary colorectal cancer

大肠癌发病率逐渐上升,遗传性大肠癌(HCRC)作为大肠癌中的重要分类越来越受到人们的重视。HCRC是由于胚系突变导致的遗传性疾病,约30%的大肠癌受家族遗传因素影响。HCRC可分为非息肉性综合征(主要为林奇综合征)和息肉性综合征(包括家族性腺瘤性息肉病、遗传性色素沉着消化道息肉病综合征、幼年性息肉综合征等)两大类。HCRC危害性大,做好筛查和随访是提高患者预后关键,本文结合我国对HCRC的筛查与随访策略的现状和研究进展展开讨论。

The incidence of colorectal cancer is gradually increasing,and hereditary colorectal cancer(HCRC)is getting more and more attention as an important classification among colorectal cancers.HCRC is a hereditary disease due to germline mutations,and about 30%of colorectal cancers are affected by genetic factors.HCRC can be divided into two categories:nonpolyposis syndromes(mainly Lynch syndrome)and polyposis syndromes(including familial adenomatous polyposis,Peutz-Jeghers syndrome,juvenile polyposis syndrome,etc.).HCRC is harmful,screening and follow-up are the key to improving the prognosis of patients,this paper discusses the current status and research progress of screening and follow-up strategies for HCRC in China.