循环肿瘤DNA检测在恶性肿瘤临床诊疗中的应用进展

Advances in the clinical application of circulating tumor DNA testing in malignant tumors

摘要:

恶性肿瘤发病率和病死率居高不下，已成为全球范围内严重威胁人类健康的重大公共卫生问题。检测技术是肿瘤精准诊疗的基础与前提。尽管组织活检仍为肿瘤诊断的金标准，但其侵入性强、重复性差，在疾病动态监测及部分临床场景中存在明显局限。近年来，基于液体活检的循环肿瘤DNA（ctDNA）检测技术迅速发展，凭借微创、可重复及能够实时反映肿瘤分子特征等优势，在肿瘤早期监测、辅助诊断、预后评估、微小残余病灶与复发监测、新辅助治疗反应预测、转移性疾病评估、治疗决策制定以及疗效与耐药性监测等方面展现出广阔的应用前景。本文对ctDNA的生物学特征及其在恶性肿瘤临床诊疗全流程中的应用进展进行综述，并对当前面临的技术挑战与未来发展方向进行总结与展望，以期为ctDNA在临床中的规范化应用提供参考。

Abstract:

Malignant tumors remain a major global public health challenge owing to their high incidence and mortality. Detection technologies constitute the foundation of precision oncology. Although tissue biopsy is regarded as the gold standard for tumor diagnosis, its invasiveness and limited feasibility for longitudinal monitoring restrict its clinical utility in certain scenarios. In recent years, circulating tumor DNA (ctDNA)–based liquid biopsy has rapidly emerged as a promising analytical approach, offering advantages such as minimal invasiveness, repeatability, and real-time reflection of tumor molecular characteristics. Accumulating evidence indicates that ctDNA plays an important role in early tumor monitoring, auxiliary diagnosis, prognostic evaluation, detection of minimal residual disease and recurrence, prediction of neoadjuvant therapy response, assessment of metastatic disease, therapeutic decision-making, and monitoring of treatment efficacy and drug resistance. This review systematically summarizes the biological characteristics of ctDNA and its current clinical applications throughout the entire continuum of cancer management, and discusses existing challenges and future perspectives, aiming to provide insights for the standardized clinical implementation of ctDNA testing.