Regional Center for Biomarkers, Department of Clinical Pathology, Azienda, Venice, Italy.
Veneto Institute of Oncology IOV, IRCCS, Padua, Italy.
Int J Biol Markers. 2020 Feb;35(1_suppl):12-15. doi: 10.1177/1724600819900512.
The role of biomarkers is crucial in oncology for both early diagnosis and the personalization of cancer treatments. Tissue biomarkers have gained a central role as predictors of the response to an increasing number of anticancer agents; conversely, the clinical role of circulating biomarkers (c-TMs) is limited and has remained almost unchanged over the years. The position of guidelines is summarized and discussed with reference to the potential usefulness of c-TMs in those areas of application that cannot be covered by tissue biomarkers. The pipeline of translational research on biomarkers is briefly described; the differences among analytical validation, clinical validation, and clinical utility are discussed, emphasizing that the assessment of clinical utility is the ultimate step toward clinical use. The role of monitoring of appropriateness as a proxy indicator of how the research pipeline has actually worked is discussed, and data and c-TMs overordering rates are reported. The role and limits of guidelines to influence appropriate c-TMs ordering are discussed. The design of primary studies on c-TMs is examined, underlining that they mainly focus on clinical validation rather than on clinical utility. The role of regulatory boards is also briefly presented and discussed.
生物标志物在肿瘤学中的作用至关重要，既可以用于早期诊断，也可以用于癌症治疗的个体化。组织生物标志物已成为预测越来越多抗癌药物反应的主要手段；相反，循环生物标志物（c-TM）的临床作用有限，多年来几乎没有变化。本文总结了指南的立场，并参考了 c-TM 在组织生物标志物无法涵盖的应用领域的潜在用途进行了讨论。简要描述了生物标志物转化研究的进展；讨论了分析验证、临床验证和临床实用性之间的差异，强调评估临床实用性是迈向临床应用的最终步骤。还讨论了监测适宜性作为研究管道实际工作的替代指标的作用，并报告了数据和 c-TM 过度订购率。讨论了指南在影响 c-TM 合理订购方面的作用和局限性。检查了 c-TM 的主要研究设计，强调它们主要侧重于临床验证，而不是临床实用性。还简要介绍和讨论了监管机构的作用。
