Liquid biopsy using circulating tumor DNA (ctDNA) has emerged as a minimally invasive, timely approach to provide molecular diagnosis and monitor tumor evolution in patients with cancer. Since the molecular landscape of metastatic colorectal cancer (mCRC) is substantially heterogeneous and dynamic over space and time, ctDNA holds significant advantages as a biomarker for this disease. Numerous studies have demonstrated that ctDNA broadly recapitulates the molecular profile of the primary tumor and metastases, and have mainly focused on the genotyping of and , that is propaedeutic for anti-EGFR treatment selection. However, ctDNA soon broadened its scope towards the assessment of early tumor response, as well as the identification of drug resistance biomarkers to drive potential molecular actionability. In this review article, we provide an overview of the current state-of-the-art of this methodology and its applications, focusing on ongoing clinical trials that employ ctDNA to prospectively guide treatment in patients with mCRC.

中文翻译：

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循环肿瘤 DNA 治疗转移性结直肠癌正在进行的临床试验和未来研究场景

使用循环肿瘤 DNA (ctDNA) 进行液体活检已成为一种微创、及时的方法，可为癌症患者提供分子诊断和监测肿瘤演变。由于转移性结直肠癌 (mCRC) 的分子景观在空间和时间上具有显着的异质性和动态性，因此 ctDNA 作为该疾病的生物标志物具有显着的优势。大量研究表明，ctDNA 广泛概括了原发肿瘤和转移瘤的分子特征，并且主要集中在 和 的基因分型上，这为抗 EGFR 治疗选择提供了基础。然而，ctDNA 很快就将其范围扩大到评估早期肿瘤反应，以及识别耐药生物标志物以驱动潜在的分子可操作性。在这篇综述文章中，我们概述了该方法的最新进展及其应用，重点关注正在进行的利用 ctDNA 前瞻性指导转移性结直肠癌患者治疗的临床试验。