Caputo Vincenza, Ciardiello Fortunato, Corte Carminia Maria Della, Martini Giulia, Troiani Teresa, Napolitano Stefania
Medical Oncology, Department of Precision Medicine, University of Campania "Luigi Vanvitelli", 80131 Napoli, Italy.
Explor Target Antitumor Ther. 2023;4(1):102-138. doi: 10.37349/etat.2023.00125. Epub 2023 Feb 28.
Liquid biopsy is a diagnostic repeatable test, which in last years has emerged as a powerful tool for profiling cancer genomes in real-time with minimal invasiveness and tailoring oncological decision-making. It analyzes different blood-circulating biomarkers and circulating tumor DNA (ctDNA) is the preferred one. Nevertheless, tissue biopsy remains the gold standard for molecular evaluation of solid tumors whereas liquid biopsy is a complementary tool in many different clinical settings, such as treatment selection, monitoring treatment response, cancer clonal evolution, prognostic evaluation, as well as the detection of early disease and minimal residual disease (MRD). A wide number of technologies have been developed with the aim of increasing their sensitivity and specificity with acceptable costs. Moreover, several preclinical and clinical studies have been conducted to better understand liquid biopsy clinical utility. Anyway, several issues are still a limitation of its use such as false positive and negative results, results interpretation, and standardization of the panel tests. Although there has been rapid development of the research in these fields and recent advances in the clinical setting, many clinical trials and studies are still needed to make liquid biopsy an instrument of clinical routine. This review provides an overview of the current and future clinical applications and opening questions of liquid biopsy in different oncological settings, with particular attention to ctDNA liquid biopsy.
液体活检是一种可重复的诊断测试,在过去几年中已成为一种强大的工具,能够以最小的侵入性实时分析癌症基因组并为肿瘤学决策提供依据。它分析不同的血液中循环生物标志物,循环肿瘤DNA(ctDNA)是首选的标志物。尽管如此,组织活检仍然是实体瘤分子评估的金标准,而液体活检在许多不同的临床场景中是一种补充工具,如治疗选择、监测治疗反应、癌症克隆进化、预后评估以及早期疾病和微小残留病(MRD)的检测。为了以可接受的成本提高其灵敏度和特异性,人们开发了大量技术。此外,还进行了多项临床前和临床研究,以更好地了解液体活检的临床效用。无论如何,一些问题仍然限制了其应用,如假阳性和假阴性结果、结果解释以及检测组合的标准化。尽管这些领域的研究迅速发展且临床应用取得了最新进展,但仍需要许多临床试验和研究才能使液体活检成为临床常规手段。本综述概述了液体活检在不同肿瘤学场景中的当前和未来临床应用以及存在的问题,尤其关注ctDNA液体活检。