Han Xiao, Wang Junyun, Sun Yingli
CAS Key Laboratory of Genomic and Precision Medicine, China Gastrointestinal Cancer Research Center, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China; University of Chinese Academy of Sciences, Beijing 100049, China.
CAS Key Laboratory of Genomic and Precision Medicine, China Gastrointestinal Cancer Research Center, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China.
Genomics Proteomics Bioinformatics. 2017 Apr;15(2):59-72. doi: 10.1016/j.gpb.2016.12.004. Epub 2017 Apr 7.
Detection of circulating tumor DNAs (ctDNAs) in cancer patients is an important component of cancer precision medicine ctDNAs. Compared to the traditional physical and biochemical methods, blood-based ctDNA detection offers a non-invasive and easily accessible way for cancer diagnosis, prognostic determination, and guidance for treatment. While studies on this topic are currently underway, clinical translation of ctDNA detection in various types of cancers has been attracting much attention, due to the great potential of ctDNA as blood-based biomarkers for early diagnosis and treatment of cancers. ctDNAs are detected and tracked primarily based on tumor-related genetic and epigenetic alterations. In this article, we reviewed the available studies on ctDNA detection and described the representative methods. We also discussed the current understanding of ctDNAs in cancer patients and their availability as potential biomarkers for clinical purposes. Considering the progress made and challenges involved in accurate detection of specific cell-free nucleic acids, ctDNAs hold promise to serve as biomarkers for cancer patients, and further validation is needed prior to their broad clinical use.
癌症患者循环肿瘤DNA(ctDNA)的检测是癌症精准医学的重要组成部分。与传统的物理和生化方法相比,基于血液的ctDNA检测为癌症诊断、预后判定及治疗指导提供了一种非侵入性且易于获取的方式。尽管关于这一主题的研究目前正在进行中,但由于ctDNA作为基于血液的生物标志物在癌症早期诊断和治疗方面具有巨大潜力,ctDNA检测在各类癌症中的临床转化一直备受关注。ctDNA主要基于肿瘤相关的基因和表观遗传改变进行检测和追踪。在本文中,我们回顾了关于ctDNA检测的现有研究,并描述了代表性方法。我们还讨论了目前对癌症患者ctDNA的认识以及它们作为临床潜在生物标志物的可用性。考虑到在准确检测特定游离核酸方面取得的进展和面临的挑战,ctDNA有望成为癌症患者的生物标志物,但在广泛临床应用之前还需要进一步验证。