Desai Aakash, Pasquina Lincoln W, Nulsen Candice, Keller-Evans Rachel B, Mata Douglas A, Tukachinsky Hanna, Oxnard Geoffrey R
Division of Hematology and Oncology, Department of Medicine, University of Alabama at Birmingham, AL, USA.
Foundation Medicine, Inc., Boston, MA, USA.
J Liq Biopsy. 2024 Jan 17;4:100140. doi: 10.1016/j.jlb.2024.100140. eCollection 2024 Jun.
Liquid biopsy profiling of circulating tumor DNA (ctDNA) has become established as a compelling, pragmatic diagnostic in the care of cancer patients and is now endorsed by multiple cancer care guidelines. Moreover, ctDNA profiling technologies have advanced significantly and offer increasingly comprehensive and reliable insights into cancer. In this review, we focus on applications of ctDNA and propose that a critical untapped opportunity is in considering how we utilize these accessible, scalable technologies across diverse potential applications. With a specific focus on clinical applications, rather than research uses, we describe 10 use cases for ctDNA profiling across four categories: (1) established and (2) emerging applications of ctDNA profiling for therapy selection, (3) incidental detection of secondary genomic findings, and (4) quantification of plasma DNA tumor content.
循环肿瘤DNA（ctDNA）的液体活检分析已成为癌症患者护理中一种引人关注且实用的诊断方法，目前已得到多项癌症护理指南的认可。此外，ctDNA分析技术有了显著进步，能为癌症提供越来越全面且可靠的见解。在本综述中，我们聚焦于ctDNA的应用，并提出一个关键的未开发机会在于思考如何在各种潜在应用中利用这些易于获取、可扩展的技术。我们特别关注临床应用而非研究用途，描述了ctDNA分析在四个类别中的10个用例：（1）既定的，以及（2）ctDNA分析用于治疗选择的新兴应用，（3）次要基因组发现的偶然检测，以及（4）血浆DNA肿瘤含量的定量分析。
