ArticleBlood2024
Molecular and clinical presentation of UBA1-mutated myelodysplastic syndromes.
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Article in Blood, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 3 of them syntheses that pooled it.
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35citing papers in PubMed, 3 pooled it
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Who cites it
35 citing papers in PubMed, 3 syntheses or guidelines pooled it, 43 citations in OpenAlex.
- American College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel.Arthritis & rheumatology (Hoboken, N.J.) · 2026Guideline
- Hypomethylating agents in vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS): A systematic review.British journal of haematology · 2026Pooled it
- Clinical features in VEXAS syndrome: a systematic review.Rheumatology (Oxford, England) · 2025Pooled it
- Lung-Predominant Hyperinflammatory Syndrome in Therapy-Related Myelodysplastic Syndrome Responsive to Interleukin-1 Blockade.Hematology reports · 2026Article
- Myelodysplasia in VEXAS syndrome.Blood advances · 2026Review
- Therapeutic Outcomes in VEXAS Syndrome: A Multicenter Comparative Cohort of Allogeneic Hematopoietic Stem Cell Transplantation and Hypomethylating Agents.American journal of hematology · 2026Article
- SomaticBlood neoplasia · 2026Article
- An Italian cartography of VEXAS-related thrombosis.HemaSphere · 2026Article
- VEXAS syndrome unmasked from relapsing polychondritis and infection mimicry: a case-based review.Rheumatology international · 2026Review
- Macrocytosis combined with monoclonal gammopathy identifies patients carrying VEXAS-linkedHemaSphere · 2026Article
- Mapping the research landscape of myelodysplastic syndromes: a scientometric analysis (2014-2025).Clinical and experimental medicine · 2026Article
- Review
- IsolatedHaematologica · 2026Article
- Cell autonomous inflammation in VEXAS is mediated by cGAS-STING.bioRxiv : the preprint server for biology · 2026Article
- VEXAS syndrome.Nature reviews. Disease primers · 2026Review
- Trisomy 8 clonal expansion during disease progression and azacitidine resistance in VEXAS syndrome: a case report.Frontiers in immunology · 2026Article
- Mapping VEXAS-associated and rare UBA1 variants in the United Kingdom: Insights from patient cohorts and the general population.British journal of haematology · 2026Article
- Case Report: Early-onset VEXAS syndrome with recurrent pulmonary inflammation and myelodysplasia: a diagnostic and therapeutic challenge.Frontiers in immunology · 2026Article
- Distinct characteristics of VEXAS-causative UBA1 M41 and recurrent functional non-M41 mutations.Leukemia · 2025Article
- Integrated Genomic and Transcriptomic Profiling of Isolated Trisomies in AML Reveals Cell Cycle Dysregulation and Therapeutic Vulnerabilities.Journal of cellular and molecular medicine · 2025Article
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Authors and funding
60 authors at 20 institutions in 14 countries.
Maria SirenkoLouis V. Gerstner, Jr. Graduate School of Biomedical Sciences, Memorial Sloan Kettering Cancer Center, New York, NY.ORCID 0000-0001-7816-8071
Elsa BernardComputational Oncology Service, Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY.ORCID 0000-0002-2057-7187
Maria CreignouPhase 1 Unit, Center for Clinical Cancer Studies, Karolinska University Hospital, Stockholm, Sweden.ORCID 0000-0002-7629-0871
Dylan DomenicoComputational Oncology Service, Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY.
Andrea FarinaIntegrated Genomics Operation, Memorial Sloan Kettering Cancer Center, New York, NY.
Juan E Arango OssaComputational Oncology Service, Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY.
Olivier KosmiderInstitut Cochin, Université de Paris Cité, Paris, France.
Robert HasserjianDepartment of Pathology, Harvard Medical School, Boston, MA.
Martin JäderstenDepartment of Medicine Huddinge, Center for Hematology and Regenerative Medicine, Karolinska University Hospital, Stockholm, Sweden.
Ulrich GermingDepartment of Hematology, Oncology and Clinical Immunology, Universitatsklinik Dusseldorf, Dusseldorf, Germany.
Guillermo SanzDepartment of Hematology, Hospital Universitario y Politécnico La Fe, Health Research Institute La Fe, Valencia, Spain.ORCID 0000-0002-2767-8191
Arjan A van de LoosdrechtDepartment of Hematology, Amsterdam University Medical Center, Vrije University Medical Center, Amsterdam, The Netherlands.
Carmelo GurnariDepartment of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH.ORCID 0000-0001-6829-5544
Matilde Yung FolloDepartment of Biomedical and Neuromotor Sciences, Cell Signalling Laboratory, University of Bologna, Bologna, Italy.ORCID 0000-0001-6126-0859
Felicitas TholDepartment of Hematology, Hemostasis, Oncology and Stem Cell Transplantation, Hannover Medical School, Hannover, Germany.
Lurdes ZamoraHematology Department, Institut Català d'Oncologia-Hospital Universitari Germans Trias i Pujol, Josep Carreras Leukaemia Research Institute, Universitat Autònoma de Barcelona, Badalona, Spain.
Ronald Feitosa PinheiroDepartment of Clinical Medicine, Federal University of Ceará, Fortaleza, Brazil.
Andrea PellagattiRadcliffe Department of Medicine, Oxford BRC Haematology Theme, University of Oxford, Oxford, United Kingdom.ORCID 0000-0002-6122-0221
Harold K EliasDepartment of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.ORCID 0000-0002-6189-4752
Detlef HaaseClinics of Hematology and Medical Oncology, University Medical Center Göttingen, Georg-August-University, Göttingen, Germany.
Birgitta SanderDepartment of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden.ORCID 0000-0002-1214-1340
Elisa OrnaHematology Department, Institut Català d'Oncologia-Hospital Universitari Germans Trias i Pujol, Josep Carreras Leukaemia Research Institute, Universitat Autònoma de Barcelona, Badalona, Spain.
Katharina ZoldanDepartment of Medicine 1, Hematology, Cellular Therapy, Hemostaseology and Infectious Diseases, University Medical Center Leipzig, Leipzig, Germany.
Lea Naomi EderClinics of Hematology and Medical Oncology, University Medical Center Göttingen, Georg-August-University, Göttingen, Germany.
Wolfgang R SperrDepartment of Internal Medicine I, Division of Hematology and Hemostaseology, Medical University of Vienna, Vienna, Austria.
Renate ThalhammerDepartment of Laboratory Medicine, Medical University of Vienna, Austria.
Christina GansterClinics of Hematology and Medical Oncology, INDIGHO Laboratories, University Medical Center, Göttingen, Germany.ORCID 0000-0002-7566-5985
Lionel AdèsDepartment of Hematology, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris, Université de Paris, Paris, France.
Magnus TobiassonDepartment of Medicine, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden.ORCID 0000-0002-3633-5852
Laura PalomoExperimental Hematology Unit, Vall d'Hebron Institute of Oncology, Barcelona, Spain.ORCID 0000-0003-3176-6271
Matteo Giovanni Della PortaCancer Center, Humanitas Research Hospital and Humanitas University, Milan, Italy.
Kety HubermanIntegrated Genomics Operation, Memorial Sloan Kettering Cancer Center, New York, NY.
Pierre FenauxDepartment of Hematology, Université de Paris, Saint-Louis Hospital, Paris, France.
Monika BelickovaDepartment of Genomics, Institute of Hematology and Blood Transfusion, Prague, Czech Republic.ORCID 0000-0002-9158-881X
Michael R SavonaDepartment of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN.ORCID 0000-0003-3763-5504
Virginia M KlimekLeukemia Service, Memorial Sloan Kettering Cancer Center, New York, NY.
Fabio P S SantosOncology-Hematology Center, Hospital Israelita Albert Einstein, São Paulo, Brazil.ORCID 0000-0001-8573-9493
Jacqueline BoultwoodNuffield Division of Clinical Laboratory Sciences, Bloodwise Molecular Haematology Unit, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom.ORCID 0000-0002-4330-2928
Ioannis KotsianidisDepartment of Hematology, Democritus Thrace University, School of Medicine, Alexandroupolis, Greece.
Valeria SantiniMyelodysplastic Syndromes Unit, Department of Experimental and Clinical Medicine, Hematology, Azienda Ospedaliero Universitaria Careggi, University of Florence, Florence, Italy.ORCID 0000-0002-5439-2172
Francesc SoléMyelodysplastic Syndromes Research Group, Josep Carreras Leukaemia Research Institute, Badalona, Barcelona, Spain.ORCID 0000-0002-3251-2161
Uwe PlatzbeckerMedical Clinic and Policlinic 1, Hematology and Cellular Therapy, University Leipzig Medical Center, Leipzig, Germany.ORCID 0000-0003-1863-3239
Michael HeuserDepartment of Hematology, Hemostasis, Oncology and Stem Cell Transplantation, Hannover Medical School, Hannover, Germany.
Peter ValentDepartment of Internal Medicine I, Division of Hematology and Hemostaseology, Medical University of Vienna, Vienna, Austria.ORCID 0000-0003-0456-5095
Carlo FinelliInstitute of Hematology "Sèragnoli," IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.ORCID 0000-0001-9372-1197
Maria Teresa VosoDepartment of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.ORCID 0000-0002-6164-4761
Lee-Yung ShihDivision of Hematology-Oncology, Chang Gung Memorial Hospital and Chang Gung University, Taoyuan, Taiwan.
Seishi OgawaDepartment of Pathology and Tumor Biology, Kyoto University Graduate School of Medicine, Kyoto, Japan.ORCID 0000-0002-7778-5374
Michaela FontenayInstitut Cochin, Université de Paris Cité, Paris, France.
Joop H JansenDepartment of Laboratory Medicine, Laboratory of Hematology, Radboud University Medical Center, Nijmegen, The Netherlands.
Jose CerveraDepartment of Hematology and Genetics Unit, University Hospital La Fe, Valencia, Spain.
Benjamin L EbertHoward Hughes Medical Institute, Boston, MA.ORCID 0000-0003-0197-5451
Rafael BejarMoores Cancer Center at University of California San Diego, La Jolla, CA.
Peter L GreenbergHematology Division, Department of Medicine, Stanford Cancer Center, Stanford University, Stanford, CA.ORCID 0000-0002-7615-9443
Norbert GattermannDepartment of Hematology, Oncology and Clinical Immunology, Heinrich-Heine-Universität, Düsseldorf, Germany.
Luca MalcovatiDepartment of Molecular Medicine, University of Pavia, Pavia, Italy.ORCID 0000-0002-1460-1611
Mario CazzolaFondazione Istituto di Ricovero e Cura Carattere Scientifico Policlinico San Matteo, University of Pavia, Pavia, Italy.ORCID 0000-0001-6984-8817
David B BeckDivision of Rheumatology, Department of Medicine, NYU Grossman School of Medicine, New York, NY.ORCID 0000-0002-5884-6231
Eva Hellström-LindbergDepartment of Medicine, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden.ORCID 0000-0002-7839-3743
Elli PapaemmanuilComputational Oncology Service, Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY.ORCID 0000-0003-1709-8983
Memorial Sloan Kettering Cancer Center · USUniversité Paris Cité · FRKarolinska University Hospital · SEMedical University of Vienna · ATUniversitätsmedizin Göttingen · DEHospital Universitari i Politècnic La Fe · ESKarolinska Institutet · SEMedizinische Hochschule Hannover · DEUniversitat Autònoma de Barcelona · ESUniversity Hospital Leipzig · DEUniversity of Pavia · ITAzienda Ospedaliero-Universitaria Careggi · ITAzienda USL di Bologna · ITChang Gung University · TWCleveland Clinic · USDemocritus University of Thrace · GRDüsseldorf University Hospital · DEHarvard University · USHeinrich Heine University Düsseldorf · DEHospital Israelita Albert Einstein · BR
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Hongbiao Carl Lekaye · 1985 to 2026
$347.4MThe Memorial Sloan Kettering Cancer Center SPORE in LeukemiaP50CA254838 · NCI · SLOAN-KETTERING INST CAN RESEARCH · PI Eytan Stein · 2021 to 2026
$16.8MTraining Program in Immunology and Inflammation.T32AI100853 · NIAID · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI Susan Ruth Schwab · 2012 to 2026
$4.5MDefining the biological consequences of somatic mutations in high risk AML using integrative single cell approachesF31CA254130 · NCI · SLOAN-KETTERING INST CAN RESEARCH · PI SIRENKO, MARIA · 2020 to 2021
$92kNCI NIH HHS F31 CA254130NCI NIH HHS P30 CA008748NCI NIH HHS P50 CA254838NIAID NIH HHS T32 AI100853
Abstract
abstractMutations 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.
Indexed as
MutationMyelodysplastic SyndromesUbiquitin-Activating EnzymesAdultAgedAged, 80 and overFemaleHumansMaleMiddle AgedYoung AdultUBA1 protein, humanUbiquitin-Activating Enzymes
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