Lynch综合征相关结直肠癌临床研究进展  

Clinical research progress in Lynch syndrome associated colorectal cancer

作　　者：陈佳[1] 史艳龙 魏倩 张聪 李力 曹立宇 余宏铸 CHEN Jia;SHI Yanlong;WEI Qian;ZHANG Cong;LI Li;CAO Liyu;YU Hongzhu(Department of Emergency Surgery,the First Affiliated Hospital of Anhui Medical University,Hefei 230022,China;Department of General Surgery,Fuyang,Anhui 236000,China;Department of Pathology,Fuyang Hospital Affiliated to Anhui Medical University,Fuyang,Anhui 236000,China;School of Nursing,Anhui Medical University,Hefei 230000,China)

机构地区：[1]安徽医科大学第一附属医院急诊外科,安徽合肥230022 [2]安徽医科大学附属阜阳医院普通外科,安徽阜阳236000 [3]安徽医科大学护理学院,安徽合肥230000 [4]安徽医科大学附属阜阳医院病理科,安徽阜阳236000

出　　处：《中国普通外科杂志》2022年第4期537-543,共7页China Journal of General Surgery

基　　金：安徽省卫健委科研基金资助项目(AHWJ2021b138)。

摘　　要：Lynch综合征(LS)是由于错配修复(MMR)基因突变,继而引发肿瘤的一种常染色体显性遗传性疾病,在临床上主要表现为微卫星不稳定性(MSI)。遗传性结直肠癌最常见的病因就是LS。随着分子诊断技术地不断提高,通过对LS分子检测实现LS相关结直肠癌的精准诊疗,逐渐成为临床关注的焦点。在我国,LS相关结直肠癌虽有较好的预后,但进一步提高LS家族史患者的筛查和随访策略仍是重要任务。此外,利用LS的免疫学特性来指导其治疗和预防是许多学者面临的一项新挑战。笔者就LS相关结直肠癌的流行病学、临床病理特征、筛查诊断和治疗及预防等新进展进行综述。Lynch syndrome(LS)is an autosomal dominant disease caused by pathogenic mutation of mismatch repair(MMR)genes that confers a predisposition to cancer development,and microsatellite instability(MSI)is its main feature in clinical assay.LS is responsible for most hereditary colorectal cancer.With the continuous improvement of molecular diagnostic technology,the accurate diagnosis and treatment of LS-related colorectal cancer through LS molecular detection has gradually become the focus of clinical attention.Despite the favorable prognosis of LS-related colorectal cancer,it is still an important task to further improve the screening and follow-up strategies for patients with family history of LS in our country.In addition,using the immunological characteristics of LS to guide its treatment and prevention is a new challenge for many scholars.Herein,the authors review the recent advances concerning LSrelated colorectal cancer in the aspects such as the epidemiology,clinicopathologic features,screening diagnosis and treatment as well as prevention.

关 键 词：结直肠肿瘤 LYNCH综合征 DNA错配修复 综述 

分 类 号：R735.3[医药卫生—肿瘤]