Hsieh Ronan W, Symonds Lynn K, Siu Jason, Cohen Stacey A
Division of Hematology/Oncology, University of Washington, Seattle, WA, United States; Clinical Research Division, Fred Hutchinson Cancer Center, Seattle, WA, United States.
Department of Laboratory Medicine, University of Washington, Seattle, WA, United States.
Int Rev Cell Mol Biol. 2025;391:43-93. doi: 10.1016/bs.ircmb.2024.08.006. Epub 2024 Sep 7.
The sampling of circulating biomarkers provides an opportunity for non-invasive evaluation and monitoring of cancer activity. In modern day practice, this has typically been in the form of circulating tumor DNA (ctDNA) detected in plasma. The field of ctDNA has been a burgeoning technology, with prominent applications for blood-based cancer screening and in disease status assessment, especially after curative-intent surgery to evaluate for minimal residual disease (MRD). Clinical applications for the latter show an incredibly high sensitivity in certain cancer types with a need for additional studies to determine how much clinical decision-making should be adapted based on ctDNA results and which cancer types, stages, and treatments are best informed by ctDNA results. This chapter provides an overview of ctDNA detection as tool for cancer screening, detecting MRD, and/or molecularly characterizing a cancer, highlighting the rapidly amassing research as a prognostic biomarker and emerging data on ctDNA as a predictive biomarker.
循环生物标志物的采样为癌症活动的非侵入性评估和监测提供了机会。在现代实践中，这通常是以检测血浆中循环肿瘤DNA（ctDNA）的形式进行。ctDNA领域一直是一项蓬勃发展的技术，在基于血液的癌症筛查和疾病状态评估中有着突出应用，尤其是在进行根治性手术后评估微小残留病（MRD）。后者的临床应用在某些癌症类型中显示出极高的敏感性，需要进一步研究来确定应根据ctDNA结果对临床决策做出多大程度的调整，以及哪些癌症类型、阶段和治疗最能从ctDNA结果中得到信息。本章概述了ctDNA检测作为癌症筛查、检测MRD和/或对癌症进行分子特征分析的工具，强调了其作为预后生物标志物迅速积累的研究以及关于ctDNA作为预测生物标志物的新出现的数据。
