Division of Medical Oncology, Center for Colorectal Cancer, National Cancer Center, Research Institute and Hospital, Goyang, Korea.
Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.
Cancer Res Treat. 2023 Apr;55(2):367-384. doi: 10.4143/crt.2023.446.
Plasma circulating tumor DNA (ctDNA) sequencing has demonstrated clinical utility for tumor molecular profiling at initial diagnosis or tumor progression in advanced solid cancers and is being rapidly incorporated into the clinical practice guidelines, including non-small cell lung and breast cancer. Despite relatively low sensitivity, plasma ctDNA sequencing has several advantages over tissue-based assays, including ease of sampling, rapid turnaround time, repeatability, and the ability to overcome spatial heterogeneity, which makes it ideal for investigating acquired resistance and monitoring tumor evolution and dynamics. With technological advancement and declining costs, the clinical application of plasma ctDNA is expanding, and numerous ongoing clinical trials are examining its potential to guide the management of advanced, localized, and even preclinical cancers of various tumor types. The ability of plasma ctDNA analysis to detect minimal residual disease following curative treatment in the absence of clinical disease is among its most promising attributes. Plasma ctDNA sequencing can also facilitate the conduct of clinical trials and drug development, particularly in immunotherapy. In order to incorporate plasma ctDNA sequencing for clinical decision-making, it is important to understand the preanalytical and analytical factors that may affect its sensitivity and reliability.
血浆循环肿瘤 DNA(ctDNA)测序在初始诊断或晚期实体瘤进展时对肿瘤分子谱分析具有临床应用价值,并且正在迅速纳入临床实践指南,包括非小细胞肺癌和乳腺癌。尽管敏感性相对较低,但血浆 ctDNA 测序相对于基于组织的检测具有多个优势,包括采样方便、周转时间短、可重复性以及克服空间异质性的能力,使其成为研究获得性耐药和监测肿瘤演变和动态的理想选择。随着技术的进步和成本的降低,血浆 ctDNA 的临床应用正在扩大,许多正在进行的临床试验正在研究其在指导晚期、局限性甚至各种肿瘤类型的临床前癌症管理方面的潜力。血浆 ctDNA 分析在无临床疾病的情况下检测根治性治疗后微小残留疾病的能力是其最有前途的特征之一。血浆 ctDNA 测序还可以促进临床试验和药物开发,特别是在免疫治疗方面。为了将血浆 ctDNA 测序纳入临床决策,了解可能影响其敏感性和可靠性的分析前和分析因素非常重要。