Department of Analytical Chemistry, Faculty of Chemistry and Joint Metabolome Facility, University of Vienna, Vienna, Austria.
European Association for Predictive, Preventive and Personalised Medicine (EPMA), Brussels, Belgium.
Mass Spectrom Rev. 2020 Sep;39(5-6):442-451. doi: 10.1002/mas.21612. Epub 2019 Nov 18.
Liquid biopsy (LB) is defined as a sample of any of body fluids (blood, saliva, tear fluid, urine, sweat, amniotic, cerebrospinal and pleural fluids, cervicovaginal secretion, and wound efflux, amongst others), which can be ex vivo analysed to detect and quantity the target(s) of interest. LB represents diagnostic approach relevant for organ-specific changes and systemic health conditions including both manifested diseases and their prestages such as suboptimal health. Further, experts emphasise that DNA-based analysis alone does not provide sufficient information for optimal diagnostics and effective treatments. Consequently, of great scientific and clinical utility are molecular patterns detected by hybrid technologies such as metabolomic tools and molecular imaging. Future proposed strategies utilise multiomic pillars (generally genome, tanscriptome, proteome, metabolome, epigenome, radiome, and microbiome), system-biological approach, and multivariable algorithms for diagnostic, prognostic, and therapeutic purposes. Current article analyses pros and cons of the mass spectrometry-based technologies, provides eminent examples of a success story "from discovery to clinical application," and demonstrates a "road-map" for the technology-driven paradigm change from reactive to predictive, preventive and personalised medical services as the medicine of the future benefiting the patient and healthcare at large. © 2019 The Authors. Mass Spectrometry Reviews published by John Wiley & Sons Ltd. Mass Spec Rev.
液体活检 (LB) 被定义为任何体液(血液、唾液、泪液、尿液、汗液、羊水、脑脊液和胸腔液、宫颈阴道分泌物和伤口渗出液等)的样本,可以在体外进行分析以检测和定量感兴趣的目标。LB 代表了与特定器官变化和系统性健康状况相关的诊断方法,包括已表现出的疾病及其前期阶段,如健康状况不佳。此外,专家强调,基于 DNA 的分析本身并不能为最佳诊断和有效治疗提供足够的信息。因此,代谢组学工具和分子成像等混合技术检测到的分子模式具有重要的科学和临床应用价值。未来提出的策略利用多组学支柱(通常是基因组、转录组、蛋白质组、代谢组、表观基因组、放射组和微生物组)、系统生物学方法和多变量算法,用于诊断、预后和治疗目的。本文分析了基于质谱的技术的优缺点,提供了“从发现到临床应用”成功案例的杰出范例,并展示了技术驱动的范式从反应性到预测性、预防性和个性化医疗服务的变革路线图,这是未来的医学,使患者和整个医疗保健受益。 2019 年作者。由 John Wiley & Sons Ltd. 出版的《质谱综述》。 Mass Spec Rev.