Spindler Karen-Lise G
a Department of Oncology , Aarhus University Hospital, Institute of Clinical Medicine, Aarhus University , Aarhus , Denmark.
Acta Oncol. 2017 Jan;56(1):7-16. doi: 10.1080/0284186X.2016.1253861.
Circulating DNA can be used to measure the total cell-free DNA (cfDNA) and for detection and quantification of tumor-specific genetic alterations in the peripheral blood, and the broad clinical potential of circulating DNA has attracted increasing focus over the past decade. Concentrations of circulating DNA are high in metastatic colorectal cancer (CRC), and the total levels of cfDNA have been reported to hold strong prognostic value. Colorectal tumors are characterized by a high frequency of well known, clinically relevant genetic alteration, which is readily detected in the cfDNA and holds potential for tailoring of palliative therapy and for monitoring during treatment. This review aims to present the current literature which has specifically reported data on the potential utility of cfDNA and on tumor-specific mutations in metastatic colorectal cancer (mCRC).
Methodological, biological and clinical aspects are discussed based on the most recent development in this specific setting, and eligible studies were identified by systematic literature searched from Pubmed and EMBASE in addition to conference papers and communications.
The literature regarding cfDNA in CRC is broad and heterogeneous concerning aims, nomenclature, methods, cohorts and clinical endpoints and consequently difficult to include in a single systematic search. However, the available data underline a strong clinical value of measuring both total cfDNA levels and tumor-specific mutations in the plasma of patients with mCRC, pre- and during systemic therapy.
This paper had gathered the most recent literature on several aspects of cfDNA in mCRC, including methodological, biological and clinical aspects, and discussed the large clinical potential in this specific setting, which needs to be validated in carefully designed prospective studies in statistically relevant cohorts.
循环DNA可用于测量总游离DNA（cfDNA），以及检测和定量外周血中的肿瘤特异性基因改变。在过去十年中，循环DNA广泛的临床潜力已引起越来越多的关注。转移性结直肠癌（CRC）患者的循环DNA浓度较高，据报道cfDNA的总水平具有很强的预后价值。结直肠肿瘤的特征是存在高频的、临床相关的已知基因改变，这些改变很容易在cfDNA中检测到，并且在姑息治疗的定制和治疗期间的监测方面具有潜力。本综述旨在介绍当前专门报道cfDNA的潜在用途以及转移性结直肠癌（mCRC）中肿瘤特异性突变数据的文献。
基于该特定领域的最新进展，讨论了方法学、生物学和临床方面的问题。除会议论文和交流外，通过对PubMed和EMBASE进行系统文献检索，确定了符合条件的研究。
关于CRC中cfDNA的文献在目的、术语、方法、队列和临床终点方面广泛且存在异质性，因此难以纳入单一的系统检索中。然而，现有数据强调了在mCRC患者全身治疗前和治疗期间测量血浆中总cfDNA水平和肿瘤特异性突变具有很强的临床价值。
本文收集了关于mCRC中cfDNA几个方面的最新文献，包括方法学、生物学和临床方面，并讨论了该特定领域巨大的临床潜力，这需要在精心设计的、具有统计学意义的前瞻性研究中进行验证。
