Lynch综合征相关胃癌研究进展

Progress in Lynch syndrome associated gastric cancer

Lynch综合征(LS)是一种由DNA错配修复系统(MMR)基因突变引起的常染色体遗传性疾病。LS相关胃癌发病率在LS相关消化道肿瘤中位居首位,与一般人群的胃癌不同,其病理表现为微卫星不稳定(MSI),对免疫治疗敏感。随着对LS分子检测的精准化以及各种诊断技术的普及,LS患者及其家属对LS相关胃癌的筛查、监测及治疗需求不断增加,但是其方案尚不明确,目前尚存在诸多争议。LS相关胃癌在亚洲人群中的发病风险较高,我国作为亚洲国家之一,应强化对LS患者的识别、规范其管理措施。笔者综述了近年来LS相关胃癌相关文献资料,以期为充分认识LS相关胃癌、优化其预防决策、提高其诊治水平提供依据和参考。

Lynch syndrome(LS)is an autosomal inherited disease caused by mutations in DNA mismatch repair(MMR)genes.LS-associated gastric cancer,its incidence ranking first among all LS-associated gastrointestinal tumors,is different from the gastric cancer in general population,and presents the pathological features of microsatellite instability(MSI)and being sensitive to immunotherapy.With the precision of LS molecular detection and the popularization of various diagnostic technologies,LS patients and their families have an increasing demand for LS-associated gastric cancer screening,surveillance,and treatment.However,but their strategies are still unclear,and there are still many controversies.The incidence risk of LS-associated gastric cancer is high in Asian population.China,as one of the Asian countries,should strengthen the identification of LS patients and standardize management measures.Here,the authors review the relevant literature concerning the LS-associated gastric cancer in recent years,so as to provide a basis and reference for fully understanding the LS-associated gastric cancer,optimizing its prevention decision,and improving its diagnosis and treatment.