Comutation patterns and clinical presentation of UBA1-mutated MDS. (A) Oncoprint for the total cohort of patients with UBA1-mutant MDS (n = 54) including results of retrospective review of clinical history for inflammatory features (bottom). Patients are ordered by decreasing UBA1 VAF per group (p.M41, non-p.M41 pathogenic, and VUS). (B) Frequency of comutations in patients with UBA1-mutated and –wild-type MDS. (C) VAF of pathogenic UBA1 and co-occurring DNMT3A (left) and TET2 (right) mutations. UBA1 VAF was adjusted for single copy of ChrX for comparison with heterozygous mutations in this analysis. Gray dashed line represents the identity line. Black solid line represents a linear model fit to the data. (D) Stacked bar plot of clinical inflammatory manifestations for n = 54 patients. (E) Kaplan-Meier curve for overall survival in cohort A (ddPCR) of patients with MDS with (blue) or without (red) UBA1 p.M41T/V/L mutations. Number of patients per group and P values are indicated on the plot. APR, acute phase reactants; ESR, erythrocyte sedimentation rate; LDH, lactate dehydrogenase.