Gao Qiang, Zeng Qiang, Wang Zhijie, Li Chengcheng, Xu Yu, Cui Peng, Zhu Xin, Lu Huafei, Wang Guoqiang, Cai Shangli, Wang Jie, Fan Jia
Department of Liver Surgery and Transplantation, Liver Cancer Institute, Zhongshan Hospital, Key Laboratory of Carcinogenesis and Cancer Invasion of Ministry of Education, Fudan University, Shanghai 200032, China.
Key Laboratory of Medical Epigenetics and Metabolism, Institutes of Biomedical Sciences, Fudan University, Shanghai 200032, China.
Innovation (Camb). 2022 May 6;3(4):100259. doi: 10.1016/j.xinn.2022.100259. eCollection 2022 Jul 12.
Effective screening modalities are currently available for only a small subset of cancers, and they generally have suboptimal performance with complicated procedures. Therefore, there is an urgent need to develop simple, accurate, and non-invasive methods for early detection of cancers. Genetic and epigenetic alterations in plasma circulating cell-free DNA (cfDNA) have shown the potential to revolutionize methods of early detection of cancers and facilitate subsequent diagnosis to improve survival of patients. The medical interest in cfDNA assays has been inspired by emerging single- and multi-early detection of cancers studies. This review summarizes current technological and clinical advances, in the hopes of providing insights into the development and applications of cfDNA assays in various cancers and clinical scenarios. The key phases of clinical development of biomarkers are highlighted, and the future developments of cfDNA-based liquid biopsies in early detection of cancers are outlined. It is hoped that this study can boost the potential integration of cfDNA-based early detection of cancers into the current clinical workflow.
目前有效的筛查方式仅适用于一小部分癌症，而且它们通常程序复杂，性能欠佳。因此，迫切需要开发简单、准确且无创的癌症早期检测方法。血浆循环游离DNA（cfDNA）中的基因和表观遗传改变已显示出变革癌症早期检测方法并促进后续诊断以提高患者生存率的潜力。对cfDNA检测的医学兴趣源于新兴的癌症单早期检测和多早期检测研究。本综述总结了当前的技术和临床进展，以期为cfDNA检测在各种癌症及临床场景中的开发与应用提供见解。文中强调了生物标志物临床开发的关键阶段，并概述了基于cfDNA的液体活检在癌症早期检测方面的未来发展。希望本研究能够推动基于cfDNA的癌症早期检测与当前临床工作流程的潜在整合。
