Abstract
Simple SummaryIn this review, we focus on recent advances in the detection and quantification of tumor cell heterogeneity and genomic instability of CTCs and the contribution of chromosome instability studies to genetic heterogeneity in CTCs at the single-CTC level.Circulating tumor cells (CTCs) can promote distant metastases and can be obtained through minimally invasive liquid biopsy for clinical assessment in cancer patients. Having both genomic heterogeneity and instability as common features, the genetic characterization of CTCs can serve as a powerful tool for a better understanding of the molecular changes occurring at tumor initiation and during tumor progression/metastasis. In this review, we will highlight recent advances in the detection and quantification of tumor cell heterogeneity and genomic instability in CTCs. We will focus on the contribution of chromosome instability studies to genetic heterogeneity in CTCs at the single-CTC level by discussing data from different cancer subtypes and their impact on diagnosis and precision medicine.
Highlights
IntroductionA major causative event involved in cancer mortality, is preceded by the appearance of circulating tumor cells (CTCs) in the blood
Tumor metastasis, a major causative event involved in cancer mortality, is preceded by the appearance of circulating tumor cells (CTCs) in the blood
The required tumor cell material is obtained by tumor biopsy—an invasive, costly, and sometimes unfeasible procedure [3], the increasing interest in CTC studies
Summary
A major causative event involved in cancer mortality, is preceded by the appearance of circulating tumor cells (CTCs) in the blood. CTCs have been detected by the expression of combined epithelial markers such as EPCAM and cytokeratin (CK), which are expressed on normal epithelial cells and carcinomas but are absent on blood leukocytes [20]. Found different phenotypic cell surface markers (CK +/EpCAM-, CK-/EpCAM +, CK +/EPCAM +) in CTCs from prostate cancer patients isolated by two different methods that do not depend on cell surface expression markers [25] They used a selection-free platform known as Rarecyte and a size-based platform named FAST [25]. Showed that epithelial cells, which failed to undergo proliferation arrest during EMT, presented mitotic abnormalities and aneuploidy (presence of an abnormal number of chromosomes in a cell) [30] This higher level of genetic instability was correlated with an increased expression of mesenchymal markers [30]
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