Molecular and clinical presentation of UBA1-mutated myelodysplastic syndromes

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023736%3A_____%2F24%3A00013707" target="_blank" >RIV/00023736:_____/24:00013707 - isvavai.cz</a>
Result on the web
<a href="https://doi.org/10.1182/blood.2023023723" target="_blank" >https://doi.org/10.1182/blood.2023023723</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1182/blood.2023023723" target="_blank" >10.1182/blood.2023023723</a>

Result language
angličtina
Original language name
Molecular and clinical presentation of UBA1-mutated myelodysplastic syndromes
Original language description
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. Retrospective clinical review, where possible, showed that 82% (28/34) UBA1-mutant cases had VEXAS syndrome–associated diagnoses or inflammatory clinical presentation. The prevalence of UBA1 mutations in patients with MDS argues for systematic screening for UBA1 in the management of MDS.
Czech name
—
Czech description
—

Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
30205 - Hematology

Project
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2024
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Similar results(10)