Turabi Khadija, Klute Kelsey, Radhakrishnan Prakash
Eppley Institute for Research in Cancer and Allied Diseases, University of Nebraska Medical Center, Omaha, NE 68198, USA.
Fred & Pamela Buffett Cancer Center, University of Nebraska Medical Center, Omaha, NE 68198, USA.
Cancers (Basel). 2024 Jul 1;16(13):2432. doi: 10.3390/cancers16132432.
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）是在血液中发现的肿瘤DNA片段，已成为癌症管理中的一项革命性工具。本综述深入探讨了ctDNA的生物学特性，研究了其释放机制，包括坏死、凋亡和主动分泌，所有这些机制都提供了有关肿瘤状态和性质的信息。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部分的低丰度使得数字PCR和靶向新一代外显子测序等替代技术在突变谱分析和检测方面更具价值和准确性。ctDNA分析有许多临床应用，包括用于监测微小残留病以检测癌症复发的非侵入性液体活检、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到治疗及随访的成功和个性化癌症护理创造了有前景的途径。
