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Molecular and clinical presentation of UBA1-mutated myelodysplastic syndromes
M. Sirenko, E. Bernard, M. Creignou, D. Domenico, A. Farina, JE. Arango Ossa, O. Kosmider, R. Hasserjian, M. Jädersten, U. Germing, G. Sanz, AA. van de Loosdrecht, C. Gurnari, MY. Follo, F. Thol, L. Zamora, RF. Pinheiro, A. Pellagatti, HK. Elias,...
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články
NLK
Free Medical Journals
od 1946 do Před 1 rokem
Freely Accessible Science Journals
od 1946 do Před 1 rokem
Open Access Digital Library
od 1946-01-01
Open Access Digital Library
od 1946-01-01
ROAD: Directory of Open Access Scholarly Resources
PubMed
38687605
DOI
10.1182/blood.2023023723
Knihovny.cz E-zdroje
- MeSH
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- mutace * MeSH
- myelodysplastické syndromy * genetika diagnóza MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ubikvitin aktivující enzymy * genetika MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
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 of unknown significance (n = 15). Among the total 40 patients with likely/pathogenic variants (2%), all were male and 63% were classified by WHO 2016 criteria as MDS with multilineage dysplasia or MDS with single-lineage dysplasia. Patients had a median of 1 additional myeloid gene mutation, often in TET2 (n = 12), DNMT3A (n = 10), ASXL1 (n = 3), or SF3B1 (n = 3). 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.
Cancer Center Humanitas Research Hospital and Humanitas University Milan Italy
Department of Biomedicine and Prevention University of Rome Tor Vergata Rome Italy
Department of Clinical Medicine Federal University of Ceará Fortaleza Brazil
Department of Genomics Institute of Hematology and Blood Transfusion Prague Czech Republic
Department of Hematology and Genetics Unit University Hospital La Fe Valencia Spain
Department of Hematology Democritus Thrace University School of Medicine Alexandroupolis Greece
Department of Hematology Université de Paris Saint Louis Hospital Paris France
Department of Laboratory Medicine Karolinska Institutet Stockholm Sweden
Department of Laboratory Medicine Medical University of Vienna Austria
Department of Medical Oncology Dana Farber Cancer Institute Boston MA
Department of Medicine Memorial Sloan Kettering Cancer Center New York NY
Department of Molecular Medicine University of Pavia Pavia Italy
Department of Pathology and Cancer Diagnostics Karolinska University Hospital Stockholm Sweden
Department of Pathology and Tumor Biology Kyoto University Graduate School of Medicine Kyoto Japan
Department of Pathology Harvard Medical School Boston MA
Department of Pathology New York University Grossman School of Medicine New York NY
Division of Rheumatology Department of Medicine NYU Grossman School of Medicine New York NY
Experimental Hematology Unit Vall d'Hebron Institute of Oncology Barcelona Spain
Hematology Division Department of Medicine Stanford Cancer Center Stanford University Stanford CA
Howard Hughes Medical Institute Boston MA
Institut Cochin Université de Paris Cité Paris France
Institute of Hematology Sèragnoli IRCCS Azienda Ospedaliero Universitaria di Bologna Bologna Italy
Integrated Genomics Operation Memorial Sloan Kettering Cancer Center New York NY
Leukemia Service Memorial Sloan Kettering Cancer Center New York NY
Ludwig Boltzmann Institute for Hematology and Oncology Medical University of Vienna Vienna Austria
Moores Cancer Center at University of California San Diego La Jolla CA
Oncology Hematology Center Hospital Israelita Albert Einstein São Paulo Brazil
Phase 1 Unit Center for Clinical Cancer Studies Karolinska University Hospital Stockholm Sweden
Citace poskytuje Crossref.org
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