DNA甲基化检测在肺癌早期诊断和预后判断中的应用

The role of DNA methylation detection in the early diagnosis and prognosis of lung cancer

肺癌是癌症死亡的主要类型,大多数肺癌患者在诊断时就已为晚期,预后相当差。虽然低剂量计算机断层扫描已经进入临床作为肺癌筛查的工具,但是其假阳性率超过90%。作为研究热点的表观修饰之一,DNA甲基化在包括癌症在内的多种疾病中起着关键作用。抑癌基因的高甲基化和原癌基因的低甲基化是肿瘤发生发展中的重要事件。因此,DNA甲基化分析可以为肺癌的早筛、诊断、治疗和预后中提供一些有用的信息。尽管组织活检等侵入性方法仍然是肿瘤诊断和监测的金标准,但也存在取样不便等局限性。近年来,液体活检发展迅速,它可以检测原发性或转移性恶性肿瘤,并能反映肿瘤的异质性。此外,它可以微创或无创的形式进行样本收集,年老体弱患者也具有良好的耐受性。本文探讨了一些用于DNA甲基化分析的新兴技术并概述了DNA甲基化在肺癌诊疗中的应用。

Lung cancer is the leading type of cancer death,and most patients with lung cancer are diagnosed at an advanced stage and have a very poor prognosis.Although low-dose computed tomography(LDCT)has entered the clinic as a screening tool for lung cancer,its false-positive rate is more than 90%.As one of the epigenetic modifications of research hotspots,DNA methylation plays a key role in a variety of diseases,including cancer.Hypermethylation of tumor suppressor genes and hypomethylation of proto-oncogenes are important events in tumorigenesis and development.Therefore,DNA methylation analysis can provide some useful information for the early screening,diagnosis,treatment and prognosis of lung cancer.Although invasive methods such as tissue biopsy remain the gold standard for tumor diagnosis and monitoring,they also have limitations such as inconvenience in sampling.In recent years,there has been a rapid development of liquid biopsy,which can detect primary or metastatic malignancies and reflect the heterogeneity of tumors.In addition,the blood sample can be collected in a minimally invasive or non-invasive format and is well tolerated in older and frail patients.This article explores some of the emerging technologies for DNA methylation analysis and provides an overview of the application of DNA methylation in the diagnosis and treatment of lung cancer.