Germans Trias i Pujol Research Institute and Hospital, Badalona, Spain.
Autonomous University of Barcelona, Cerdanyola del Valles, Spain.
Mol Oncol. 2021 Jun;15(6):1667-1682. doi: 10.1002/1878-0261.12983. Epub 2021 May 26.
Over the past decade, substantial developments have been made in the detection of circulating tumor DNA (ctDNA)-cell-free DNA (cfDNA) fragments released into the circulation from tumor cells and displaying the genetic alterations of those cells. As such, ctDNA detected in liquid biopsies serves as a powerful tool for cancer patient stratification, therapy guidance, detection of resistance, and relapse monitoring. In this Review, we describe lung cancer diagnosis and monitoring strategies using ctDNA detection technologies and compile recent evidence regarding lung cancer-related mutation detection in liquid biopsy. We focus not only on epidermal growth factor receptor (EGFR) alterations, but also on significant co-mutations that shed more light on novel ctDNA-based liquid biopsy applications. Finally, we discuss future perspectives of early-cancer detection and clonal hematopoiesis filtering strategies, with possible inclusion of microbiome-driven liquid biopsy.
在过去的十年中，在检测从肿瘤细胞释放到循环系统中并显示这些细胞遗传改变的循环肿瘤 DNA（ctDNA）-无细胞 DNA（cfDNA）片段方面取得了实质性进展。因此，液体活检中检测到的 ctDNA 可作为癌症患者分层、治疗指导、耐药性检测和复发监测的有力工具。在这篇综述中，我们描述了使用 ctDNA 检测技术进行肺癌诊断和监测的策略，并汇编了有关液体活检中肺癌相关突变检测的最新证据。我们不仅关注表皮生长因子受体（EGFR）的改变，还关注更能说明新型基于 ctDNA 的液体活检应用的重要共突变。最后，我们讨论了早期癌症检测和克隆性造血过滤策略的未来展望，可能包括基于微生物组的液体活检。
