Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong Special Administrative Region; Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong Special Administrative Region; State Key Laboratory of Translational Oncology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong Special Administrative Region.
Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong Special Administrative Region; Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong Special Administrative Region; State Key Laboratory of Translational Oncology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong Special Administrative Region.
J Hepatol. 2019 Aug;71(2):409-421. doi: 10.1016/j.jhep.2019.04.003. Epub 2019 Apr 18.
There is much global research interest surrounding the use of cell-free DNA (cfDNA) for liquid biopsies. cfDNA-based non-invasive prenatal testing for foetal chromosomal aneuploidies was the first successful application of cfDNA technology that transformed clinical practice - it has since been rapidly adopted in dozens of countries and is used by millions of pregnant women every year. Prompted by such developments, efforts to use cfDNA in other fields, especially for cancer detection and monitoring have been actively pursued in recent years. Cancer-associated aberrations including single nucleotide mutations, copy number aberrations, aberrations in methylation and alterations in DNA fragmentation patterns have been detected in the cfDNA of patients suffering from a wide variety of cancers. In addition, the analysis of methylation and fragmentomic patterns has enabled the tissue origin of cfDNA to be determined. In this review, different approaches for detecting circulating liver-derived nucleic acids and cancer-associated aberrations, as well as their potential clinical applications for the detection, monitoring and management of hepatocellular carcinoma, will be discussed.
目前，全球范围内有许多研究都在关注游离 DNA（cfDNA）在液体活检中的应用。基于 cfDNA 的无创性产前胎儿染色体非整倍体检测是 cfDNA 技术的首次成功应用，该技术改变了临床实践——此后，它已在数十个国家迅速采用，每年有数百万孕妇使用。受这些进展的推动，近年来，人们积极致力于将 cfDNA 应用于其他领域，特别是癌症的检测和监测。在患有各种癌症的患者的 cfDNA 中，已经检测到与癌症相关的异常，包括单核苷酸突变、拷贝数异常、甲基化异常和 DNA 片段化模式改变。此外，对甲基化和片段组学模式的分析能够确定 cfDNA 的组织来源。在这篇综述中，我们将讨论检测循环肝源性核酸和与癌症相关的异常的不同方法，以及它们在肝细胞癌的检测、监测和管理中的潜在临床应用。
