Department of Dermatology and Plastic Surgery, Faculty of Life Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, Japan.
Curr Treat Options Oncol. 2022 Apr;23(4):562-577. doi: 10.1007/s11864-022-00948-2. Epub 2022 Mar 17.
Because the recent success of novel therapeutic approaches has dramatically changed the clinical management of melanoma, less invasive and repeatable monitoring tools that can predict the disease status, drug resistance, and the development of side effects are increasingly needed. As liquid biopsy has enabled us to diagnose and monitor disease status less invasively, substantial attention has been directed toward this technique, which is gaining importance as a diagnostic and/or prognostic tool. It is evident that microRNA, cell-free DNA, and circulating tumor cells obtained via liquid biopsy are promising diagnostic and prognostic tools for melanoma, and they also have utility for monitoring the disease status and predicting drug effects. Although current challenges exist for each biomarker, such as poor sensitivity and/or specificity and technical problems, recent technical advances have increasingly improved these aspects. For example, next-generation sequencing technology for detecting microRNAs or cell-free DNA enabled high-throughput analysis and provided significantly higher sensitivity. In particular, cancer personalized profiling by deep sequencing for quantifying cell-free DNA is a promising method for high-throughput analysis that provides real-time comprehensive data for patients at various disease stages. For wide clinical implementation, it is necessary to increase the sensitivity for the markers and standardize the assay procedures to make them reproducible, valid, and inexpensive; however, the broad clinical application of liquid biopsy could occur quickly. This review focuses on the significance of liquid biopsy, particularly related to the use of blood samples from patients with melanoma, and discusses its future perspectives.
由于新型治疗方法的最近成功显著改变了黑色素瘤的临床管理，因此越来越需要能够预测疾病状态、耐药性和副作用发展的侵袭性更小且可重复的监测工具。由于液体活检使我们能够以更小的侵袭性来诊断和监测疾病状态，因此人们对这项技术给予了大量关注，它正作为一种诊断和/或预后工具变得越来越重要。显然，通过液体活检获得的 microRNA、无细胞 DNA 和循环肿瘤细胞是黑色素瘤有前途的诊断和预后工具，它们也可用于监测疾病状态和预测药物效果。尽管每种生物标志物都存在当前的挑战，例如敏感性和/或特异性差和技术问题，但最近的技术进步越来越多地改善了这些方面。例如，用于检测 microRNA 或无细胞 DNA 的下一代测序技术实现了高通量分析，并提供了显著更高的敏感性。特别是，通过深度测序对癌细胞游离 DNA 进行癌症个体化分析是一种有前途的高通量分析方法，可为处于不同疾病阶段的患者提供实时全面的数据。为了广泛的临床实施，有必要提高标记物的敏感性并使检测程序标准化，以使其具有可重复性、有效性和低廉的价格；然而，液体活检的广泛临床应用可能很快就会发生。本综述重点介绍了液体活检的意义，特别是与使用黑色素瘤患者的血液样本相关的意义，并讨论了其未来展望。
