Department of Medical Oncology, Centro de Oncologia do Paraná, Curitiba, PR, Brazil.
Latin American Cooperative Oncology Group, Genitourinary Group, Porto Alegre, Brazil.
Nat Rev Urol. 2020 May;17(5):271-291. doi: 10.1038/s41585-020-0297-9. Epub 2020 Mar 17.
In the era of precision oncology, liquid biopsy techniques, especially the use of plasma circulating tumour DNA (ctDNA) analysis, represent a paradigm shift in the use of genomic biomarkers with considerable implications for clinical practice. Compared with tissue-based tumour DNA analysis, plasma ctDNA is more convenient to test, more readily accessible, faster to obtain and less invasive, minimizing procedure-related risks and offering the opportunity to perform serial monitoring. Additionally, genomic profiles of ctDNA have been shown to reflect tumour heterogeneity, which has important implications for the identification of resistant clones and selection of targeted therapy well before clinical and radiographic changes occur. Moreover, plasma ctDNA testing can also be applied to cancer screening, risk stratification and quantification of minimal residual disease. These features provide an unprecedented opportunity for early treatment of patients, improving the chances of treatment success.
在精准肿瘤学时代,液体活检技术,特别是血浆循环肿瘤 DNA(ctDNA)分析的应用,代表了基因组生物标志物应用的范式转变,对临床实践具有重要意义。与基于组织的肿瘤 DNA 分析相比,血浆 ctDNA 检测更方便、更易获取、获得速度更快且侵入性更小,最大限度地降低了与操作相关的风险,并提供了进行连续监测的机会。此外,ctDNA 的基因组图谱已被证明反映了肿瘤异质性,这对于在临床和影像学改变发生之前确定耐药克隆体和选择靶向治疗具有重要意义。此外,血浆 ctDNA 检测还可应用于癌症筛查、风险分层和微小残留疾病的定量检测。这些特征为患者的早期治疗提供了前所未有的机会,提高了治疗成功的机会。