Circulating tumor DNA (ctDNA), a fragment of tumor DNA found in the bloodstream, has emerged as a revolutionary tool in cancer management. This review delves into the biology of ctDNA, examining release mechanisms, including necrosis, apoptosis, and active secretion, all of which offer information about the state and nature of the tumor. Comprehensive DNA profiling has been enabled by methods such as whole genome sequencing and methylation analysis. The low abundance of the ctDNA fraction makes alternative techniques, such as digital PCR and targeted next-generation exome sequencing, more valuable and accurate for mutation profiling and detection. There are numerous clinical applications for ctDNA analysis, including non-invasive liquid biopsies for minimal residual disease monitoring to detect cancer recurrence, personalized medicine by mutation profiling for targeted therapy identification, early cancer detection, and real-time evaluation of therapeutic response. Integrating ctDNA analysis into routine clinical practice creates promising avenues for successful and personalized cancer care, from diagnosis to treatment and follow-up.
循环肿瘤DNA（ctDNA）作为在血液中发现的肿瘤DNA片段，已成为癌症管理领域的革命性工具。本综述深入探讨ctDNA的生物学特性，分析其释放机制——包括坏死、凋亡和主动分泌过程，这些机制均能反映肿瘤的状态与本质。全基因组测序和甲基化分析等方法已实现对ctDNA的全面DNA谱分析。由于ctDNA在血液中含量极低，数字PCR和靶向新一代外显子组测序等替代技术在突变谱分析和检测中展现出更高价值与精确度。ctDNA分析具有广泛的临床应用前景：通过无创液体活检进行微小残留病灶监测以发现癌症复发；借助突变谱分析实现靶向治疗识别的个性化医疗；早期癌症筛查；以及治疗反应的实时评估。将ctDNA分析整合到常规临床实践中，为从诊断、治疗到随访的全周期癌症精准医疗开辟了前景广阔的新途径。
Decoding the Dynamics of Circulating Tumor DNA in Liquid Biopsies
肿瘤(癌症)患者之家