循环肿瘤DNA在肝细胞癌诊断和预后中作用的最新进展  

The role of circulating tumor DNA in the diagnosis and prognosis of hepatocellular carcinoma

作　　者：范子豪 任锋[1] Fan Zihao;Ren Feng(Beijing Youan Hospital,Capital Medical University Beijing Institute of Heputology,Beijing 100069,China)

机构地区：[1]首都医科大学附属北京佑安医院北京肝病研究所,北京100069

出　　处：《中华肝脏病杂志》2022年第12期1382-1386,共5页Chinese Journal of Hepatology

基　　金：国家自然科学基金面上项目(81770611);北京自然科学基金和北京市教委联合资助重点项目(KZ202010025035);北京市科技计划“首都临床诊疗技术研究及示范应用”专项课题(Z191100006619096,Z191100006619097);科技部传染病重大专项项目(2018ZX10301407-005-002,2018ZX10302205-004-004);北京市医管局“登峰”人才计划(DFL20221503);高层次公共卫生技术人才建设项目(字科带头人-02-13)。

摘　　要：肝细胞癌(HCC)是常见的恶性肿瘤之一,但目前针对HCC的早期诊断和预后判断的生物标志物检测尚不能满足临床需求。循环肿瘤DNA(ctDNA)是存在于血液循环之中有高度肿瘤特异性的DNA分子,它属于循环游离DNA(cfDNA)的一部分,起源于癌症患者的原发性肿瘤或转移灶。目前,随着下一代测序技术的不断改进以及对HCC遗传学或表观遗传学的充分了解,使我们能够更加全面地分析ctDNA突变和甲基化情况。通过对ctDNA突变和甲基化情况不断地探索和挖掘以及检测方法的不断创新,HCC诊断和预后在特异性和敏感性方面能够得到很大提高。Hepatocellular carcinoma(HCC)is one of the common malignant tumors.However,the detection of biomarkers can't meet the clinical needs for the diagnosis and prognosis of HCC now.Circulating tumor DNA(ctDNA)is a highly tumor-specific DNA molecule that exists in the blood circulation.It is part of Circulating cell free DNA(cfDNA)and originates from the primary tumor or metastasis of cancer patients.Now,with the developing of next-generation sequencing technology and a full understanding of HCC genetics or epigenetic changes,we can analyze ctDNA mutations and methylation more comprehensively.Through continuous exploration of ctDNA mutations and methylation and continuous innovation of detection methods,HCC diagnosis and prognosis can be greatly improved in terms of specificity and sensitivity.

关 键 词：肝细胞癌 循环肿瘤DNA 循环游离DNA 甲基化 诊断 预后 

分 类 号：R735.7[医药卫生—肿瘤]