American Society of Hematology

Figure 3.

$Early detection and leukemic evolution in DDX41-GPV carriers. (A) Distribution of MCV in DDX41-GPV carriers who did not develop any MN vs those who developed MDS/AML. (P = 9.51 × 10–5). (B) Prevalence and (C) variant allele fraction distribution of somatic variants associated with CH in individuals with DDX41-GPV vs controls (all UKB participants lacking nonsynonymous DDX41 germ line variants). There were no differences between the 2 group with regards to CH prevalence (OR, 0.89; 95% CI, 0.66-1.20; P = .43, multivariate logistic regression) or clone size (P = .91; Mann-Whitney U test). (D) Comparison of frequencies of CH somatic mutations in all DDX41-GPV carriers vs controls overall (left), and specifically in those UKB participants who later developed MDS/AML (right). (E) Total somatic SNV burden in the genomes of DDX41-GPV–associated (n = 10) vs sporadic (n = 141) AML cases. There was no significant difference between the 2 groups (P = .093, Mann-Whitney U test), indicating that there is no increased mutagenesis in the former. In panels A and E, the horizontal lines mark the medians, the box marks the interquartile range, and whiskers extend to the last data point lying within 1.5× the interquartile range (Tukey whiskers). † denotes somatic mutation calling with Mutect2 failed for 1 of 1059 DDX41-GPV samples.$

Early detection and leukemic evolution in DDX41-GPV carriers. (A) Distribution of MCV in DDX41-GPV carriers who did not develop any MN vs those who developed MDS/AML. (P = 9.51 × 10^–5). (B) Prevalence and (C) variant allele fraction distribution of somatic variants associated with CH in individuals with DDX41-GPV vs controls (all UKB participants lacking nonsynonymous DDX41 germ line variants). There were no differences between the 2 group with regards to CH prevalence (OR, 0.89; 95% CI, 0.66-1.20; P = .43, multivariate logistic regression) or clone size (P = .91; Mann-Whitney U test). (D) Comparison of frequencies of CH somatic mutations in all DDX41-GPV carriers vs controls overall (left), and specifically in those UKB participants who later developed MDS/AML (right). (E) Total somatic SNV burden in the genomes of DDX41-GPV–associated (n = 10) vs sporadic (n = 141) AML cases. There was no significant difference between the 2 groups (P = .093, Mann-Whitney U test), indicating that there is no increased mutagenesis in the former. In panels A and E, the horizontal lines mark the medians, the box marks the interquartile range, and whiskers extend to the last data point lying within 1.5× the interquartile range (Tukey whiskers). † denotes somatic mutation calling with Mutect2 failed for 1 of 1059 DDX41-GPV samples.

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