Li Ming, Xie Sisi, Lu Chenyu, Zhu Lingyun, Zhu Lvyun
Department of Biology and Chemistry, College of Liberal Arts and Sciences, National University of Defense Technology, Changsha, China.
Front Oncol. 2021 Jul 21;11:692322. doi: 10.3389/fonc.2021.692322. eCollection 2021.
The circulating tumor DNA (ctDNA), as a promising biomarker of liquid biopsy, has potential clinical relevance on the molecular diagnosis and monitoring of cancer. However, the trace concentration level of ctDNA in the peripheral blood restricts its extensive clinical application. Recently, high-throughput-based methodologies have been leveraged to improve the sensitivity and specificity of ctDNA detection, showing a promising avenue towards liquid biopsy. This review briefly summarizes the high-throughput data features concerned by current ctDNA detection strategies and the technical obstacles, potential solutions, and clinical relevance of current ctDNA profiling technologies. We also highlight future directions improving the limit of detection of ctDNA for better clinical application. This review may serve as a reference for the crosslinks between data science and ctDNA-based liquid biopsy, benefiting clinical translation in advanced cancer diagnosis.
循环肿瘤DNA（ctDNA）作为液体活检中一种很有前景的生物标志物，在癌症的分子诊断和监测方面具有潜在的临床相关性。然而，外周血中ctDNA的痕量浓度水平限制了其广泛的临床应用。最近，基于高通量的方法已被用于提高ctDNA检测的灵敏度和特异性，为液体活检展现出一条充满前景的途径。本综述简要总结了当前ctDNA检测策略所关注的高通量数据特征以及技术障碍、潜在解决方案和当前ctDNA分析技术的临床相关性。我们还强调了提高ctDNA检测限以实现更好临床应用的未来方向。本综述可为数据科学与基于ctDNA的液体活检之间的交叉联系提供参考，有益于晚期癌症诊断中的临床转化。
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