Nadal C, Winder T, Gerger A, Tougeron David
1 Department of Medical Oncology, Institut Clínic de Malalties Hemato-Oncològiques, Hospital Clínic de Barcelona, Barcelona, Spain.
2 Networked Biomedical Research Center for Hepatic and Digestive Diseases (CIBERehd), Madrid, Spain.
Tumour Biol. 2017 May;39(5):1010428317705749. doi: 10.1177/1010428317705749.
Tumor biopsy is currently the gold standard for diagnosis and in determining cell signaling pathways involved in the development of treatment resistance. However, there are major challenges with this technique, including the need for serial sampling to monitor treatment resistance, which is invasive and also has the potential for selection bias due to intra-tumoral and inter-tumoral heterogeneity. These challenges highlight the need for more effective methods for obtaining Tumor samples. Liquid biopsy analyzes genetic material or tumor cells shed into the blood from the primary tumor and metastatic sites and consequently provides a comprehensive, real-time picture of the tumor burden in an individual patient. Indeed, liquid biopsy has the potential to revolutionize cancer management. Here, we review recent studies on the potential clinical applications of liquid biopsy using circulating tumor DNA in colorectal cancer, including screening, diagnosis, detection of minimal residual disease after surgery, detection of recurrence, prognosis, predicting treatment response, monitoring tumor burden or response during treatment, and tracking resistance. We also discuss recent data demonstrating the utility of detecting KRAS-mutated circulating tumor DNA, both at diagnosis to determine an appropriate treatment strategy and during anti-epidermal growth factor receptor therapy to predict treatment resistance. The future integration of liquid biopsy into clinical practice is discussed, together with alternative approaches and key questions that need to be answered in future clinical studies before this technology can be implemented and used routinely.
肿瘤活检目前是诊断以及确定参与耐药性发展的细胞信号通路的金标准。然而，这项技术存在重大挑战，包括需要进行系列采样以监测耐药性，这具有侵入性，并且由于肿瘤内和肿瘤间的异质性还存在选择偏倚的可能性。这些挑战凸显了需要更有效的获取肿瘤样本的方法。液体活检分析从原发性肿瘤和转移部位释放到血液中的遗传物质或肿瘤细胞，从而提供个体患者肿瘤负荷的全面、实时情况。事实上，液体活检有可能彻底改变癌症管理。在此，我们综述了近期关于使用循环肿瘤DNA进行液体活检在结直肠癌中的潜在临床应用的研究，包括筛查、诊断、术后微小残留病的检测、复发检测、预后、预测治疗反应、治疗期间监测肿瘤负荷或反应以及追踪耐药性。我们还讨论了近期数据，这些数据证明了检测KRAS突变的循环肿瘤DNA的效用，无论是在诊断时以确定合适的治疗策略，还是在抗表皮生长因子受体治疗期间预测治疗耐药性。本文讨论了液体活检未来融入临床实践的情况，以及在该技术能够常规实施和使用之前，未来临床研究中需要回答的替代方法和关键问题。
