Department of Surgery, University of Southern California Norris Comprehensive Cancer Center , Los Angeles , CA , USA.
Department of Medicine, University of Southern California Norris Comprehensive Cancer Center , Los Angeles , CA , USA.
Expert Rev Mol Diagn. 2019 Nov;19(11):1031-1041. doi: 10.1080/14737159.2019.1664290. Epub 2019 Sep 8.
: Liquid biopsies have attracted considerable attention as potential diagnostic, prognostic, predictive, and screening assays in oncology. The term liquid biopsies include circulating tumor cells (CTCs) and circulating tumor DNA (ctDNA) in the blood. While many liquid biopsy technologies are under active investigation, relatively few liquid biopsy assays have been proven to serve as a diagnostic surrogate for biopsies of metastatic disease as predictive biomarkers to guide the selection of therapy in the clinic. : The objective of this review is to highlight the status of liquid biopsies in solid tumors in the oncology literature with attention to proven utility as diagnostic surrogates for macrometastases. : Carefully designed clinical-translational studies are needed to establish the diagnostic accuracy and clinical utility of liquid biopsy biomarkers in oncology. Investigators must fully consider relevant pre-analytical variables, assay sensitivity, bioinformatics considerations as well as the clinical utility of rare event profiling in the context of the normal blood background. Future liquid biopsy research should address the concern that not all DNA mutations are expressed and should provide the means to discover potential therapeutic targets in metastatic patients via a minimally invasive blood draw.
液体活检作为一种潜在的诊断、预后、预测和筛查方法，在肿瘤学领域引起了广泛关注。液体活检这一术语包括血液中的循环肿瘤细胞（CTC）和循环肿瘤 DNA（ctDNA）。虽然许多液体活检技术正在积极研究中，但只有少数液体活检检测被证明可以作为转移性疾病活检的替代诊断指标，作为预测生物标志物，指导临床治疗的选择。
本综述的目的是强调液体活检在肿瘤学文献中的实体肿瘤中的现状，重点是证明其作为大转移的诊断替代指标的实用性。
需要精心设计临床转化研究，以确定液体活检生物标志物在肿瘤学中的诊断准确性和临床实用性。研究人员必须充分考虑相关的分析前变量、检测灵敏度、生物信息学考虑因素，以及在正常血液背景下对稀有事件分析的临床实用性。未来的液体活检研究应解决并非所有 DNA 突变都能表达的问题，并通过微创采血为转移性患者发现潜在的治疗靶点提供手段。
