Northwestern University Feinberg School of Medicine, Chicago, Illinois; Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Chicago, Illinois.
Northwestern University Feinberg School of Medicine, Chicago, Illinois.
J Thorac Oncol. 2019 Jan;14(1):16-24. doi: 10.1016/j.jtho.2018.09.022. Epub 2018 Oct 6.
Advances in DNA sequencing methods have significantly expanded the potential clinical applications of analyzing circulating tumor DNA (ctDNA). This genetic information can identify the presence of targetable mutations and has been explored for cancer screening purposes. ctDNA can be obtained without the risks inherent to biopsy, allowing for serial assessments over time. Several studies have additionally suggested that ctDNA can be used to detect the presence of minimal residual disease (MRD) after surgical resection in several cancer types, including lung cancer. The ability to detect MRD would allow clinicians to tailor adjuvant therapies, which carry risks of significant toxicities and may benefit only select groups of patients. Here, we review the current state of ctDNA profiling methods and evaluate the evidence supporting the use of ctDNA analysis to assess for MRD. We discuss how MRD detection could help identify patients at increased risk of disease recurrence and thus guide treatment decisions for resectable lung cancer. Finally, we propose future steps to validate such approaches and expand the utility of these rapidly progressing technologies.
DNA 测序方法的进步极大地拓展了分析循环肿瘤 DNA（ctDNA）的潜在临床应用。这种遗传信息可以识别靶向突变的存在，并已被用于癌症筛查目的。ctDNA 可以在没有活检固有风险的情况下获得，从而可以随着时间的推移进行连续评估。几项研究还表明，ctDNA 可用于检测几种癌症类型（包括肺癌）手术后微小残留疾病（MRD）的存在。检测 MRD 的能力将使临床医生能够调整辅助治疗，这些治疗具有显著毒性的风险，并且可能仅使某些患者受益。在这里，我们回顾了 ctDNA 分析方法的现状，并评估了支持使用 ctDNA 分析来评估 MRD 的证据。我们讨论了 MRD 检测如何帮助识别疾病复发风险增加的患者，从而为可切除性肺癌的治疗决策提供指导。最后，我们提出了验证这些方法并扩展这些快速发展技术的实用程序的未来步骤。
