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.

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.

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