Pathobiology. 2018;85(1-2):146-154. doi: 10.1159/000473882. Epub 2017 Jun 15.
Cancer is a spatial and temporal dynamic disease where differently evolving genetic clones are responsible for progression. In this landscape, the genomic heterogeneity of the primary tumours can be captured by deep-sequencing representative spatial samples. However, the recognition of genetic alterations responsible for tumour evolution remains a challenging task. Recently, the "liquid biopsy" was recognized as a powerful real-time approach for the molecular monitoring of this dynamic disease. The term "liquid biopsy" generally refers to the use of circulating (cell-free) tumour DNA (ctDNA) and circulating tumour cells (CTCs) as non-invasive biomarkers for the early diagnosis, prognosis, monitoring of clinical progression, and response to treatment in different types of tumours, including the highly genomic heterogeneous breast cancer. The implementation and standardization of both approaches are still needed to achieve the required sensitivity and specificity to successfully analyze heterogenous tumours, but pivotal studies, in particular those concerning colorectal cancer, have shown the feasibility and usefulness of liquid biopsy for monitoring the Darwinian clonal evolution from an early to a metastatic stage.
癌症是一种时空动态疾病,其中不同演化的遗传克隆负责疾病的进展。在这种情况下,可以通过深度测序有代表性的空间样本来捕获原发性肿瘤的基因组异质性。然而,识别负责肿瘤进化的遗传改变仍然是一项具有挑战性的任务。最近,“液体活检”被认为是一种强大的实时方法,可用于对这种动态疾病进行分子监测。“液体活检”这一术语通常是指使用循环(无细胞)肿瘤 DNA(ctDNA)和循环肿瘤细胞(CTC)作为非侵入性生物标志物,用于不同类型肿瘤的早期诊断、预后、临床进展监测以及对治疗的反应,包括高度基因组异质性的乳腺癌。为了成功分析异质性肿瘤,仍然需要实施和标准化这两种方法,以达到所需的灵敏度和特异性,但重要的研究,特别是涉及结直肠癌的研究,已经表明液体活检在监测从早期到转移阶段的达尔文式克隆进化方面是可行和有用的。