PDF(Pubmed)
Abstract：
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.
摘要：
循环肿瘤DNA(ctDNA),血液中发现的肿瘤DNA片段,已经成为癌症管理的革命性工具。这篇综述深入研究了ctDNA的生物学，检查释放机制，包括坏死,凋亡，和活跃的分泌，所有这些都提供了有关肿瘤状态和性质的信息。通过全基因组测序和甲基化分析等方法实现了全面的DNA谱分析。ctDNA部分的低丰度使得替代技术，如数字PCR和靶向下一代外显子组测序，对于突变分析和检测更有价值和准确。ctDNA分析有许多临床应用，包括用于微小残留病监测的非侵入性液体活检，以检测癌症复发，通过突变谱分析进行靶向治疗识别的个性化医疗，早期癌症检测，和治疗反应的实时评估。将ctDNA分析整合到常规临床实践中，为成功和个性化的癌症治疗创造了有希望的途径。从诊断到治疗和随访。
