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cfDNA 分析在临床实践中的挑战与机遇:国际液体活检学会(ISLB)的观点。

Challenges and opportunities of cfDNA analysis implementation in clinical practice: Perspective of the International Society of Liquid Biopsy (ISLB).

机构信息

Thoracic Oncology Department and Early Phase Clinical Trials Section, School of Medicine, Maryland University, Maryland, USA.

Clinical and Translational Oncology Group, Clínica del Country, Bogotá, Colombia; Foundation for Clinical and Applied Cancer Research - FICMAC, Bogotá, Colombia; Molecular Oncology and Biology Systems Research Group (Fox-G), Universidad El Bosque, Bogotá, Colombia.

出版信息

Crit Rev Oncol Hematol. 2020 Jul;151:102978. doi: 10.1016/j.critrevonc.2020.102978. Epub 2020 May 5.

DOI:10.1016/j.critrevonc.2020.102978
PMID:32428812
Abstract

Precision medicine was born with the development of new diagnostic techniques and targeted drugs, yielding better outcomes in cancer care. With the evolution and increasing sensitivity for detecting oncogenic drivers, liquid biopsies (LBs), specifically cell-free DNA (cfDNA) analysis, have been proposed as a minimally-invasive technique for genomic profiling. Ranging from sequencing techniques to PCR-based methods and other more complex strategies, this approach, currently applicable in some solid tumors with robust evidence, is showing promising opportunities in other cancers. However, difficulties in validating their clinical utility exist within limitation at different levels among several techniques, reporting of the results, lack of appropriate clinical trial designs, and unknown economic impact. One of the aims of the ISLB is to create recommendations to develop reliable and sustainable diagnostic, prognostic and predictive tools using LBs. This paper is addressing these objectives, helping the healthcare providers and scientific community to understand the potential of LB.

摘要

精准医学随着新的诊断技术和靶向药物的发展而诞生,在癌症治疗方面取得了更好的效果。随着检测致癌驱动因素的进化和灵敏度的提高,液体活检(LB),特别是无细胞 DNA(cfDNA)分析,已被提议作为一种用于基因组分析的微创技术。该方法包括测序技术、基于 PCR 的方法和其他更复杂的策略,目前在一些具有可靠证据的实体瘤中适用,在其他癌症中显示出有前途的机会。然而,在不同技术之间的验证其临床应用的能力存在着局限性,包括报告结果的缺乏、缺乏适当的临床试验设计和未知的经济影响。ISLB 的目标之一是创建使用 LB 开发可靠和可持续的诊断、预后和预测工具的建议。本文旨在实现这些目标,帮助医疗保健提供者和科学界了解 LB 的潜力。

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