循环肿瘤DNA液态活检检测微小残留病在实体肿瘤诊疗中的研究进展

Research progress of circulating tumor DNA liquid biopsy for detection of minimal residual disease in the diagnosis and management of solid tumors

关键词:  循环肿瘤DNA  微小残留病  实体肿瘤  液体活检  检测方法  临床应用

Key words:  circulating tumor DNA  minimal residual disease  solid tumor  liquid biopsy  detection method  clinical application

摘要:

基于液态活检的微小残留病（minimal residual disease, MRD）检测在各肿瘤疾病的应用中具有巨大的潜力，随着基因测序技术和生物信息学的发展，二代测序(next-generation sequencing, NGS)作为一种新兴的MRD检测技术，可以对循环肿瘤DNA(circulation tumor DNA, ctDNA)进行定量和定性分析，目前在多种实体瘤中的应用均具有高灵敏度和高特异度。多项研究已证实基于ctDNA的MRD检测结果与患者复发预测、预后判断、疗效评估及个体化分层治疗均有临床相关性，且相较于传统临床手段优势明显。但目前ctDNA MRD的检测技术应用于常规临床实践仍需要大量临床数据的支持，检测方法的统一标准仍未建立。

Abstract:

Liquid biopsy-based detection of minimal residual disease(MRD) has been widely used in clinical oncology. The next general sequencing(NGS), as an emerging technique of MRD detection provides quantitative and qualitative analysis of circulating tumor DNA(ctDNA) for solid tumors with high sensitivity and high specificity. Recent studies have demonstrated that the ctDNA-based MRD detection has significant advantages over traditional methods in recurrence prediction, prognosis determination, efficacy assessment and individualized stratified treatment of various malignant tumors. However, for its routine clinical application large amount of clinical evidence are needed and the standardization of detection methods is required.