Garrido-Navas M Carmen, García-Díaz Abel, Molina-Vallejo Maria Pilar, González-Martínez Coral, Alcaide Lucena Miriam, Cañas-García Inés, Bayarri Clara, Delgado Juan Ramón, González Encarna, Lorente Jose Antonio, Serrano M Jose
GENYO Centre for Genomics and Oncological Research, formed by Pfizer, the University of Granada and the Andalusian Regional Government, PTS Granada, Liquid Biopsy and Cancer Interception Group, Av. de la Ilustración, 114, 18016 Granada, Spain.
Universidad Internacional de la Rioja, Avenida de la Paz, 137, 26006 Logroño, Spain.
Cancers (Basel). 2020 Nov 12;12(11):3343. doi: 10.3390/cancers12113343.
Being minimally invasive and thus allowing repeated measures over time, liquid biopsies are taking over traditional solid biopsies in certain circumstances such as those for unreachable tumors, very early stages or treatment monitoring. However, regarding mutation status analysis, liquid biopsies have not yet substituted tissue samples, mainly due to the lack of concordance between the two types of biopsies. This needs to be examined in a study-dependent manner, taking into account the particular type of liquid biopsy analyzed, that is, circulating tumor cells (CTCs) or cell-free DNA (cfDNA), its involvement in the tumor biology and evolution and, finally, the technology used to analyze each biopsy type. Here, we review the main studies analyzing mutations in either CTCs or cfDNA in the three more prevalent solid tumors: breast, colon and lung cancers. We evaluate the correlation for mutation status between liquid biopsies and tumor tissue, suggesting possible sources of discrepancies, as well as evaluating the clinical utility of using liquid biopsies for the analysis of mutation status and the future actions that need to be undertaken to make liquid biopsy analysis a reality for the evaluation of mutations.
液体活检具有微创性，因此能够随时间进行重复检测，在某些情况下，如针对无法触及的肿瘤、极早期肿瘤或治疗监测时，正逐渐取代传统的实体活检。然而，在突变状态分析方面，液体活检尚未取代组织样本，主要原因是两种活检类型之间缺乏一致性。这需要根据具体研究情况进行考察，要考虑所分析的液体活检的特定类型，即循环肿瘤细胞（CTC）或游离DNA（cfDNA），其在肿瘤生物学和演变中的作用，以及最后用于分析每种活检类型的技术。在此，我们回顾了主要研究，这些研究分析了三种最常见实体肿瘤（乳腺癌、结肠癌和肺癌）中CTC或cfDNA的突变情况。我们评估了液体活检与肿瘤组织之间突变状态的相关性，指出了可能存在差异的来源，还评估了使用液体活检分析突变状态的临床实用性以及为使液体活检分析成为评估突变的现实手段而需要采取的未来行动。
