Tag: CTC

CNA Evolution from Primary to CTCs

[PMID: 28487279] [Genome Research]

Single-cell sequencing deciphers a convergent evolution of copy number alterations from primary to circulating tumor cells

“Here, we studied genomic alterations in single primary tumor cells and circulating tumor cells (CTCs) from the same patient. Single-nucleotide variants (SNVs) in single cells from both samples occurred sporadically, whereas CNAs among primary tumor cells emerged accumulatively rather than abruptly, converging toward the CNA in CTCs. Focal CNAs affecting the MYC gene and the PTEN gene were observed only in a minor portion of primary tumor cells but were present in all CTCs, suggesting a strong selection toward metastasis. Single-cell structural variant (SV) analyses revealed a two-step mechanism, a complex rearrangement followed by gene amplification, for the simultaneous formation of anomalous CNAs in multiple chromosome regions.”


Single-CTC WGS

[PMID:26575023] [Oncotarget]

A comparison of isolated circulating tumor cells and tissue biopsies using whole-genome sequencing in prostate cancer

“Using high-quality WGS on single-CTCs, we identified the shared genomic alterations between CTCs and tumor tissues.” “we observed a trend: the number of shared mutations discovered in the CTCs increased as we sequenced more CTCs. This would imply that at any given time point, multiple CTCs would be needed to better approximate the genomic content of the underlying disease (i.e. addressing spatial heterogeneity). “