Patel K M, Tsui D W Y
Cancer Research UK Cambridge Institute, University of Cambridge, Li Ka Shing Centre, Robinson Way, Cambridge CB2 0RE, UK; Department of Academic Urology, University of Cambridge Hospitals, Box 243, Cambridge Biomedical Campus, Hills Road, Cambridge CB2 0QQ, UK.
Cancer Research UK Cambridge Institute, University of Cambridge, Li Ka Shing Centre, Robinson Way, Cambridge CB2 0RE, UK.
Clin Biochem. 2015 Oct;48(15):957-61. doi: 10.1016/j.clinbiochem.2015.04.005. Epub 2015 Apr 15.
The recent understanding of tumour heterogeneity and cancer evolution in response to therapy has raised questions about the value of historical or single site biopsies for guiding treatment decisions. The ability of ctDNA analysis to reveal de novo mutations (i.e., without prior knowledge), allows monitoring of clonal heterogeneity without the need for multiple tumour biopsies. Additionally, ctDNA monitoring of such heterogeneity and novel mutation detection will allow clinicians to detect resistant mechanisms early and tailor treatment therapies accordingly. If ctDNA can be used to detect low volume cancerous states, it will have important applications in treatment stratification post-surgery/radical radiotherapy and may have a role in patient screening. Mutant cfDNA can also be detected in other bodily fluids that are easily accessible and may aid detection of rare mutant alleles in certain cancer types. This article outlines recent advances in these areas.
最近对肿瘤异质性以及癌症在治疗反应中的演变的理解，引发了关于历史活检或单点活检对于指导治疗决策的价值的疑问。ctDNA分析揭示从头突变（即无需先验知识）的能力，使得无需多次肿瘤活检就能监测克隆异质性。此外，对这种异质性进行ctDNA监测以及检测新的突变，将使临床医生能够早期检测到耐药机制并据此调整治疗方案。如果ctDNA可用于检测低容量癌状态，那么它在手术后/根治性放疗后的治疗分层中将具有重要应用，并且可能在患者筛查中发挥作用。突变的cfDNA也可以在其他易于获取的体液中检测到，这可能有助于在某些癌症类型中检测罕见的突变等位基因。本文概述了这些领域的最新进展。
