循环肿瘤DNA(ctDNA)的连续分析正在成为预后、预测和患者监测生物标志物。在转移性环境中，已经通过监管机构批准或推荐了几个多基因ctDNA检测方法，以个性化的靶向治疗为主，特别是针对肺癌。相比之下，在非转移性疾病中，检测因为预防性治疗后产生的最小残留疾病(MRD)的ctDNA存在重大的技术挑战。通过使用肿瘤基因组学指导的连续ctDNA分析，多项研究提供了关于ctDNA在预测复发风险方面敏感性和特异性的有希望的发现。本文讨论了ctDNA作为生物标志物用于指导转移性疾病靶向治疗的进展、限制和未来前景，以及使用ctDNA MRD检测用于指导非转移性环境下的辅助治疗。版权所有©2023 Elsevier Ltd.。保留所有权利。

Serial analysis of circulating tumor DNA (ctDNA) over the disease course is emerging as a prognostic, predictive and patient-monitoring biomarker. In the metastatic setting, several multigene ctDNA assays have been approved or recommended by regulatory organizations for personalized targeted therapy, especially for lung cancer. By contrast, in nonmetastatic disease, detection of ctDNA resulting from minimal residual disease (MRD) following multimodal treatment with curative intent presents major technical challenges. Several studies using tumor genotyping-informed serial ctDNA profiling have provided promising findings on the sensitivity and specificity of ctDNA in predicting the risk of recurrence. We discuss progress, limitations and future perspectives relating to the use of ctDNA as a biomarker to guide targeted therapy in metastatic disease, as well as the use of ctDNA MRD detection to guide adjuvant treatment in the nonmetastatic setting.Copyright © 2023 Elsevier Ltd. All rights reserved.