Figure 1. Prevalence of UBA1 mutations... | American Society of Hematology

Figure 1.

$Prevalence of UBA1 mutations in MDS. (A) Schematic of study design showing cohort A (top) profiled by ddPCR and cohort B (bottom) profiled by NGS for UBA1 mutations. (B) Lollipop plot showing likely pathogenic mutations (top) and VUS (bottom) in UBA1 detected by ddPCR and/or NGS. Variants are colored by VAF and point shape indicates whether the variant was detected by ddPCR, NGS, or both. VUS in the noncanonical transcripts are reported below the x-axis. (C) VAF of UBA1 mutations detected by NGS in cohort B, adjusted for single copy of chromosome X in males. (D) Correlation of UBA1 NGS VAF and ddPCR mutant droplet fraction for patients (n = 8) with UBA1 p.M41T/V/L variants detected by both assays. (E) Stacked bar plot of WHO 2016 classification (available for n = 53/54). (F) Stacked bar plot of IPSS-M risk category (available for n = 48/54). (G) Stacked bar plot of number of co-occurring mutations in 54 patients with UBA1-mutated MDS (left) and cohort B (right).$

Prevalence of UBA1 mutations in MDS. (A) Schematic of study design showing cohort A (top) profiled by ddPCR and cohort B (bottom) profiled by NGS for UBA1 mutations. (B) Lollipop plot showing likely pathogenic mutations (top) and VUS (bottom) in UBA1 detected by ddPCR and/or NGS. Variants are colored by VAF and point shape indicates whether the variant was detected by ddPCR, NGS, or both. VUS in the noncanonical transcripts are reported below the x-axis. (C) VAF of UBA1 mutations detected by NGS in cohort B, adjusted for single copy of chromosome X in males. (D) Correlation of UBA1 NGS VAF and ddPCR mutant droplet fraction for patients (n = 8) with UBA1 p.M41T/V/L variants detected by both assays. (E) Stacked bar plot of WHO 2016 classification (available for n = 53/54). (F) Stacked bar plot of IPSS-M risk category (available for n = 48/54). (G) Stacked bar plot of number of co-occurring mutations in 54 patients with UBA1-mutated MDS (left) and cohort B (right).

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