Candiolo Cancer Institute, FPO-IRCCS, Candiolo, Turin, Italy; Department of Oncology, University of Torino, Candiolo, Turin, Italy.
Candiolo Cancer Institute, FPO-IRCCS, Candiolo, Turin, Italy.
Ann Oncol. 2019 Oct 1;30(10):1580-1590. doi: 10.1093/annonc/mdz227.
Cell-free DNA fragments are shed into the bloodstream by tumor cells. The analysis of circulating tumor DNA (ctDNA), commonly known as liquid biopsy, can be exploited for a variety of clinical applications. ctDNA is being used to genotype solid cancers non-invasively, to track tumor dynamics and to detect the emergence of drug resistance. In a few settings, liquid biopsies have already entered clinical practice. For example, ctDNA is used to guide treatment in a subset of lung cancers. In this review, we discuss how recent improvements in the sensitivity and accuracy of ctDNA analyses have led to unprecedented advances in this research field. We further consider what is required for the routine deployment of liquid biopsies in the clinical diagnostic space. We pinpoint technical hurdles that liquid biopsies have yet to overcome, including preanalytical and analytical challenges. We foresee how liquid biopsies will transform clinical practice: by complementing (or replacing) imaging to monitor treatment response and by detecting minimal residual disease after surgery with curative intent.
游离 DNA 片段由肿瘤细胞释放到血液中。循环肿瘤 DNA(ctDNA)的分析,通常称为液体活检,可以用于各种临床应用。ctDNA 被用于非侵入性地对实体瘤进行基因分型,以跟踪肿瘤动态并检测耐药性的出现。在一些情况下,液体活检已经进入临床实践。例如,ctDNA 用于指导一部分肺癌的治疗。在这篇综述中,我们讨论了 ctDNA 分析灵敏度和准确性的最新进展如何导致该研究领域的前所未有的进展。我们进一步考虑在临床诊断领域常规部署液体活检需要什么。我们指出了液体活检尚未克服的技术障碍,包括分析前和分析方面的挑战。我们预见液体活检将如何改变临床实践:通过补充(或替代)成像来监测治疗反应,并通过具有治愈意图的手术后检测微小残留疾病。