Wu Ziman, Yang Haiyan, Li Xinying, Ji Xiang, Mo Chan, Zheng Zhou, Xu Yafei, Xiong Dan
School of Medical Technology, Xinxiang Medical University, Xinxiang, China.
Medical Laboratory of the Third Affiliated Hospital of Shenzhen University, Shenzhen, China.
Front Oncol. 2025 May 15;15:1520733. doi: 10.3389/fonc.2025.1520733. eCollection 2025.
Circulating tumor DNA (ctDNA), a subset of cell-free DNA (cfDNA), originates from primary tumors and metastatic lesions in cancer patients, often carrying genomic variations identical to those of the primary tumor. ctDNA analysis via liquid biopsy has proven to be a valuable biomarker for early cancer detection, minimal residual disease (MRD) assessment, monitoring tumor recurrence, and evaluating treatment efficacy. However, despite advancements in ctDNA analysis technologies, standardized protocols for its extraction and detection have yet to be established. Each step of the process-from pre-analytical variables to detection techniques-significantly impacts the accuracy and reliability of ctDNA analysis. This review examines recent developments in ctDNA detection methods, focusing on pre-analytical factors such as specimen types, collection tubes, centrifugation protocols, and storage conditions, alongside high-throughput and ultra-sensitive detection technologies. It also briefly discusses the clinical potential of liquid biopsy in nasopharyngeal carcinoma (NPC).
循环肿瘤DNA（ctDNA）是游离DNA（cfDNA）的一个子集，起源于癌症患者的原发性肿瘤和转移病灶，通常携带与原发性肿瘤相同的基因组变异。通过液体活检进行ctDNA分析已被证明是早期癌症检测、微小残留病（MRD）评估、监测肿瘤复发和评估治疗疗效的有价值的生物标志物。然而，尽管ctDNA分析技术取得了进展，但其提取和检测的标准化方案尚未建立。从分析前变量到检测技术的过程中的每一步都对ctDNA分析的准确性和可靠性有重大影响。本综述探讨了ctDNA检测方法的最新进展，重点关注分析前因素，如样本类型、采集管、离心方案和储存条件，以及高通量和超灵敏检测技术。它还简要讨论了液体活检在鼻咽癌（NPC）中的临床潜力。
