ctDNA甲基化检测在肿瘤诊疗中的价值

The value of methylated circulating tumor DNA as biomarkers in cancer diagnosis and prognosis

癌症患者血浆或血清中的循环肿瘤DNA(ctDNA)为肿瘤的非侵入性取样提供了机会。这种"液体活检"允许对DNA进行拷贝数变异、特异性突变以及表观遗传改变的检测,并可以进行病情实时"跟踪",从而指导和改善癌症患者的整个诊疗过程。与检测肿瘤特异性突变相比,ctDNA在特定基因区域的异常甲基化具有高度一致的特征,使得ctDNA甲基化检测更广泛地适用于肿瘤的诊断、监测,预测治疗反应和预后判断。因此,ctDNA甲基化检测被认为是癌症诊断和风险评估最有价值的方法之一。

Circulating tumor DNA (ctDNA) in the blood of cancer patients provides an opportunity for non-invasive sampling of tumor DNA. This "liquid biopsy" allows for detection of copy number variations, tumor-specific mutations, epigenetic changes, and can be used to guide and improve treatment throughout real-time "tracking" the course of tumor disease. Aberrant methylation of specific gene regions can be a very consistent feature of cancer, in contrast to mutations, which makes ctDNA methylation amenable to the design of widely clinical applications in early diagnosis, monitoring disease status, predicting treatment response and predicting prognosis. Therefore, ctDNA methylation detection is considered as one of the most valuable methods for cancer diagnosis and risk assessment.