循环肿瘤DNA在消化系统肿瘤中的应用  

Application of circulating tumor DNA in digestive system neoplasms

作　　者：于明鑫 杨爱明[1] Yu Mingxin;Yang Aiming(Department of Gastroenterology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China)

机构地区：[1]中国医学科学院北京协和医学院北京协和医院消化内科,北京100730

出　　处：《首都医科大学学报》2023年第6期999-1005,共7页Journal of Capital Medical University

基　　金：国家临床重点专科项目(ZK108000)。

摘　　要：循环肿瘤DNA(circulating tumor DNA,ctDNA)属于血浆游离DNA(circulating free DNA,cfDNA)的一种,是通过凋亡或坏死的肿瘤细胞释放到血液中,或由肿瘤直接分泌。ctDNA携带肿瘤特异性基因特征和表观遗传学特征,包括基因突变、染色体重排、拷贝数变异和甲基化改变。ctDNA属于液体活检技术,具有操作方便、重复性高、创伤性小等优势。ctDNA可应用于消化系统肿瘤早期癌症的筛查和诊断、指导治疗、监测治疗效果、分析术后残余病灶及预防疾病复发。本文对ctDNA的生物学特性、检测方法、在消化系统肿瘤中的应用进行了探讨。Circulating tumor DNA(ctDNA)is a type of circulating free DNA(cfDNA),which is released into the blood by apoptotic or necrotic tumor cells,or directly secreted by tumors.ctDNA carries tumor-specific genetic and epigenetic characteristics,including gene mutations,chromosome rearrangements,copy number variations,and methylation changes.ctDNA liquid biopsy technique has the advantages of easy operation,high repeatability and minimal invasion.ctDNA can be used to screen and diagnose early stage of digestive system tumor,guide treatment,monitor therapeutic effect,analyze postoperative residual lesions and prevent disease recurrence.This article discusses the biological characteristics,detection methods,and application of ctDNA in digestive system neoplasms.

关 键 词：循环肿瘤DNA 血浆游离DNA 液体活检 消化系统肿瘤 

分 类 号：R57[医药卫生—消化系统]