循环肿瘤DNA甲基化用于肿瘤诊断和预后的研究进展  

Latest research progress of ctDNA methylation for tumor diagnosis and prognosis

作　　者：王欣悦 孙奋勇[1] Wang Xinyue;Sun Fenyong(Shanghai Tenth People′s Hospital,Clinical Laboratory,Shanghai 200072,China)

机构地区：[1]上海市第十人民医院检验科,上海200072

出　　处：《中华检验医学杂志》2021年第5期426-429,共4页Chinese Journal of Laboratory Medicine

摘　　要：循环肿瘤DNA(ctDNA)是血液中由肿瘤细胞释放的DNA片段,含有癌症相关基因突变和表观遗传学变异。DNA甲基化变异是发生于癌变早期,随肿瘤进展动态变化的一类表观遗传学改变。液体活检ctDNA甲基化具有无创、靶分子稳定、成本效益良好、诊断性能高、应用范围广等优势,监测其水平有助于肿瘤的早期诊断、预后评估。其分析前流程和甲基化检测方法显著影响检测结果,需加以规范以获得高质量检测结果。迄今为止,已发表大量文献报道ctDNA甲基化在肿瘤诊断和预后中的应用。相信在不久的将来,能够实现ctDNA甲基化检验流程标准化,进而推广ctDNA甲基化液体活检项目的大范围临床应用。Circulating tumor DNAs(ctDNAs)are DNA fragments released from tumor cells into bloodstream,containing genetic mutations and epigenetic variations related to cancer.DNA methylation variation is a kind of epigenetic variation which happens in early carcinogenesis and dynamically changes with cancer development.Liquid biopsy of ctDNA methylation has the advantages of non-invasiveness,target molecule stableness,considerable cost-effectiveness,high diagnostic performance and wide application expansion,detection of whose level is conducive to early diagnosis and prognostic evaluation of cancer.The pre-analytical procedures and methylation detection methodologies significantly influence after test results,and should be standardized to obtain high quality results.Up to now,a large amount of literature covering the utility of ctDNA methylation in cancer diagnosis and prognosis have been published.It is believed that in the near future,the detection process of ctDNA methylation would be standardized,and the large-scale clinical application of ctDNA methylation as a liquid biopsy project would be promoted.

关 键 词：循环肿瘤DNA 甲基化 肿瘤诊断预后 

分 类 号：R730.4[医药卫生—肿瘤]