Wu Xiaoliang, Zhu Lin, Ma Patrick C
From the West Virginia University Cancer Institute, West Virginia University Medicine, West Virginia University, Morgantown, WA; West Virginia Clinical and Translational Institute, Morgantown, WV.
Am Soc Clin Oncol Educ Book. 2018 May 23;38(38):964-977. doi: 10.1200/EDBK_199767.
In recent years, there has been a revolutionary expansion in technologic advances and therapeutic innovations in cancer medicine. Cancer diagnostics has begun to move away from a sole dependence on direct tumor tissue biopsy for cancer detection, diagnosis, and treatment monitoring. The need for improvement in molecular cancer diagnostics has never been more important, with not only the advent of cancer genomics and genomics-guided precision medicine but also the recent arrival of cancer immunotherapies. Owing to the practical limitations and risks associated with tissue-based biopsy diagnostics, novel noninvasive cancer diagnostics platforms have continued to evolve and expand in recent years. Examples of these platforms include the liquid biopsy, which is used to interrogate ctDNA or circulating tumor cells, proteomics, metabolomics, and exosomes; the urine biopsy, which is used to assay ctDNAs; saliva and stool biopsies, which are used for molecular genomics assays; and the breath biopsy, which measures volatile organic compounds. These next-generation noninvasive molecular diagnostics assays beyond tissues fundamentally transform the potential utilities of cancer diagnostics to enable repeat, prospective, and serial longitudinal "biopsies" to monitor disease response resistance and progression on therapies. Moreover, they allow continual interrogation and molecular in-depth analysis of the evolving tumor's pan-canceromics under therapeutic stress. These technological and diagnostic advances have already brought about paradigm-changing next-generation cancer therapeutic strategies to enhance overall treatment efficacies. This article reviews the key noninvasive next-generation molecular diagnostics platforms beyond tissues, with emphasis on clinical utilities and applications.
近年来,癌症医学的技术进步和治疗创新取得了革命性的进展。癌症诊断已开始摆脱单纯依赖直接肿瘤组织活检进行癌症检测、诊断和治疗监测的局面。随着癌症基因组学和基因组学指导的精准医学的出现,以及近期癌症免疫疗法的问世,改进分子癌症诊断的需求变得前所未有的重要。由于基于组织的活检诊断存在实际局限性和风险,新型非侵入性癌症诊断平台近年来不断发展和扩展。这些平台的例子包括用于检测循环肿瘤DNA(ctDNA)或循环肿瘤细胞的液体活检、蛋白质组学、代谢组学和外泌体;用于检测ctDNA的尿液活检;用于分子基因组学检测的唾液和粪便活检;以及用于测量挥发性有机化合物的呼吸活检。这些超越组织的下一代非侵入性分子诊断检测从根本上改变了癌症诊断的潜在用途,能够进行重复、前瞻性和系列纵向“活检”,以监测疾病对治疗的反应、耐药性和进展。此外,它们还允许在治疗压力下对不断演变的肿瘤的泛癌症组学进行持续检测和分子深度分析。这些技术和诊断进展已经带来了改变范式的下一代癌症治疗策略,以提高整体治疗效果。本文综述了超越组织的关键非侵入性下一代分子诊断平台,重点介绍了其临床用途和应用。