Fig. 1: Visualization of the evolution of CNAs in cell-free plasma DNA and peripheral blood cells at the time of the initial CNA cancer screening study and the follow-up.
From: Copy-number alterations in cell-free DNA can be transient or harbingers of clonal hematopoiesis
A, B Representative CIRCOS plots showing the evolution of the CNA detected in cfDNA with GIPseq results from the initial CNA cancer screening study (outer circle) versus follow-up (inner circle). Each plot represents signals with a z-score ≥3.0 (suggesting gain; in green) or ≤3.0 (suggesting loss; in red). The chromosomes with a |zz-score| ≥ 3.0 are marked with a blue rectangle, where the score is calculated as the standard score of the z-score of an autosome compared to the z-score of the remaining ones. C, D FISH analysis on freshly isolated peripheral blood cells of the observed chromosomal aberrations. A genomic representation profile and C dual-color FISH of evolved cases at the follow-up, 02022017-08 and 29042016-27. B genomic representation profiles and D dual-color FISH of stable cases at the follow-up, 18022016-01 and 20042017-10. C, D, left panels: three signals for 15q (PML, Spectrum Orange) and two signals for 17q (RARA, Spectrum Green). C right panel: one signal for chromosome 5q (EGR1, Spectrum Orange) and two signals for 5p (D5S23, Spectrum Green). D right panel: loss of 9p (Spectrum Orange), two signals for CEP 12 (Spectrum Aqua).
