biostudies-literatureSirenko MNIAID NIH HHSNCI NIH HHS1221-1229https://www.ebi.ac.uk/biostudies/studies/S-EPMC12060156biostudies-literatureUnknown144(11)<h4>Abstract</h4>Mutations in UBA1, which are disease-defining for VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, have been reported in patients diagnosed with myelodysplastic syndromes (MDS). Here, we define the prevalence and clinical associations of UBA1 mutations in a representative cohort of patients with MDS. Digital droplet polymerase chain reaction profiling of a selected cohort of 375 male patients lacking MDS disease-defining mutations or established World Health Organization (WHO) disease classification identified 28 patients (7%) with UBA1 p.M41T/V/L mutations. Using targeted sequencing of UBA1 in a representative MDS cohort (n = 2027), we identified an additional 27 variants in 26 patients (1%), which we classified as likely/pathogenic (n = 12) and BloodMolecular and clinical presentation of UBA1-mutated myelodysplastic syndromes.PMC12060156T32 AI100853P30 CA008748P50 CA254838F31 CA254130Eder LNBoultwood JDomenico DJadersten MAdes LEbert BLHasserjian RHaase DSander BThol FPinheiro RFValent PHellstrom-Lindberg EKlimek VMPalomo LTobiasson MKotsianidis ICervera JCazzola MPapaemmanuil EArango Ossa JEKosmider OSole FGanster CGerming UHuberman KSavona MRPellagatti ABejar RFarina ASantini VOgawa SSperr WRvan de Loosdrecht AAJansen JHHeuser MSanz GShih LYFenaux PFinelli CCreignou MZoldan KOrna EFontenay MSirenko MGurnari CSantos FPSBelickova MPlatzbecker UElias HKGreenberg PLDella Porta MGBeck DBFollo MYZamora LGattermann NBernard EThalhammer RVoso MTMalcovati LfalseMolecular and clinical presentation of UBA1-mutated myelodysplastic syndromes.<h4>Abstract</h4>Mutations in UBA1, which are disease-defining for VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, have been reported in patients diagnosed with myelodysplastic syndromes (MDS). Here, we define the prevalence and clinical associations of UBA1 mutations in a representative cohort of patients with MDS. Digital droplet polymerase chain reaction profiling of a selected cohort of 375 male patients lacking MDS disease-defining mutations or established World Health Organization (WHO) disease classification identified 28 patients (7%) with UBA1 p.M41T/V/L mutations. Using targeted sequencing of UBA1 in a representative MDS cohort (n = 2027), we identified an additional 27 variants in 26 patients (1%), which we classified as likely/pathogenic (n = 12) and 2024-01-01T00:00:00Z2024 Sep2026-06-01T23:32:24.147Z2026-05-24T03:07:03.483ZS-EPMC120601563868760510.1182/blood.2023023723