Figure 2.
SNVs, InDels, and CNAs in the cohort of 17 patients with R. (A) Number of SNVs and InDels in the PB-CLL versus the tissue-RS in each of the 17 patients. CH1003, CH1009 and CH1019 (indicated with asterisk) appear as outliers due to an increased mutational burden and were excluded from downstream analysis. (B-D) Number of genes per sample harboring a SNV/InDel or CNA in the PB-CLL compared with the tissue-RS. Three groups of genes are illustrated: CLL drivers (B), DDR (C), and recurrent (D) genes. Statistics are as follows: (B) 2-sided Wilcoxon signed-rank test with continuity correction (P = .022; Δm = 2.5; 95% CI, 1.5-5.0); 2-sided paired Student t test after applying a Blom transformation (P = .010; Δm = 0.46; 95% CI, 0.13-0.80); (C) 2-sided Wilcoxon signed-rank test with continuity correction (P = .022; Δm = 3.0; 95% CI, 1.5-12.0); 2-sided paired Student t test after applying a Blom transformation (P = .018; Δm = 0.56; 95% CI, 0.12-1.00); (D) 2-sided Wilcoxon signed-rank test with continuity correction (P = .0025; Δm = 5.5; 95% CI, 2.5-12.5); 2-sided paired Student t test after applying a Blom transformation (P = .0030; Δm = 0.64; 95% CI, 0.26-1.00). (E) Recurrent genes carrying a SNV or InDel in at least 2 RS patients. Genes not previously implicated in the transformation to RS are in red.