Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Letter
  • Published:

Characteristics and prognostic significance of myelodysplasia-related features in VEXAS syndrome

This is a preview of subscription content, access via your institution

Access options

Buy this article

USD 39.95

Prices may be subject to local taxes which are calculated during checkout

Fig. 1: Study design and comparative hematologic, molecular, and prognostic features between VEXAS-MDS and VEXAS without MDS.
Fig. 2: Hematologic parameters, mutational landscape, prognostic scores, and survival in VEXAS-MDS vs matched MDS controls.

Data availability

Data are available on reasonable request.

References

  1. Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, et al. Somatic Mutations in UBA1 and severe adult-onset autoinflammatory disease. N Engl J Med. 2020;383:2628–38.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Beck DB, Bodian DL, Shah V, Mirshahi UL, Kim J, Ding Y, et al. Estimated prevalence and clinical manifestations of UBA1 variants associated with VEXAS Syndrome in a clinical population. JAMA. 2023;329:318–24.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Georgin-Lavialle S, Terrier B, Guedon AF, Heiblig M, Comont T, Lazaro E, et al. Further characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of 116 French patients. Br J Dermatol. 2022;186:564–74.

    Article  CAS  PubMed  Google Scholar 

  4. Gutierrez-Rodrigues F, Kusne Y, Fernandez J, Lasho TL, Shalhoub RN, Ma X, et al. Spectrum of clonal hematopoiesis in VEXAS syndrome. Blood 2023: blood.2022018774.

  5. Mekinian AM, Georgin-Lavaille S, Ferrada MA, Savic S, Koster MJ, Kosmider O et al. American College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel. Arthritis Rheumatol. 2025. https://doi.org/10.1002/art.43287.

  6. Sirenko M, Bernard E, Creignou M, Domenico D, Farina A, Arango Ossa JE et al. Molecular and clinical presentation of UBA1-mutated myelodysplastic syndromes. Blood 2024. blood.2023023723.

  7. Khoury JD, Solary E, Abla O, Akkari Y, Alaggio R, Apperley JF, et al. The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms. Leukemia. 2022;36:1703–19.

    Article  PubMed  PubMed Central  Google Scholar 

  8. Jachiet V, Kosmider O, Beydon M, Hadjadj J, Zhao L-P, Grobost V et al. Efficacy and safety of azacitidine for VEXAS syndrome: a large-scale retrospective study from the FRENVEX group. Blood 2025: blood.2024028133.

  9. Gurnari C, Koster L, Baaij LGA, Heiblig M, Yakoub-Agha I, Collin M et al. Allogeneic Hematopoietic Cell Transplantation for VEXAS Syndrome: Results of a Multicenter Study of the EBMT. Blood Adv 2024; bloodadvances.2023012478.

  10. Greenberg PL, Tuechler H, Schanz J, Sanz G, Garcia-Manero G, Solé F, et al. Revised international prognostic scoring system for myelodysplastic syndromes. Blood. 2012;120:2454–65.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  11. Bernard E, Tuechler H, Greenberg PL, Hasserjian RP, Arango Ossa JE, Nannya Y et al. Molecular International Prognostic Scoring System for Myelodysplastic Syndromes. NEJM Evid 2022; 1: EVIDoa2200008.

  12. Zhao L-P, Schell B, Sébert M, Kim R, Lemaire P, Boy M, et al. Prevalence of UBA1 mutations in MDS/CMML patients with systemic inflammatory and auto-immune disease. Leukemia. 2021;35:2731–3.

    Article  CAS  PubMed  Google Scholar 

  13. Zhao L-P, Dumas-Rivero T, Barette L, Aguinaga L, Cheffai A, Chauvel C et al. Prognostic Significance of Monocytic-like Phenotype in AML patients treated with Venetoclax and Azacytidine. Blood Adv 2025; bloodadvances.2024015734.

  14. Gurnari C, Maciejewski JP. How I manage acquired pure red cell aplasia in adults. Blood. 2021;137:2001–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  15. Papaemmanuil E, Gerstung M, Malcovati L, Tauro S, Gundem G, Van Loo P, et al. Clinical and biological implications of driver mutations in myelodysplastic syndromes. Blood. 2013;122:3616–27.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

Download references

Acknowledgements

The authors thank all members of the FRENVEX group for their contribution to the development of this work.

Author information

Authors and Affiliations

Authors

Consortia

Contributions

L.-P.Z. collected the data and performed the analyses. L.-P.Z. and P.F. wrote the manuscript. O.K., L.L., and E.C. contributed to the interpretation and analysis of the genetic and phenotypic data. A.M., L.A., J.-D.B., S.A., E.C., O.F., B.T., S.G.-L., J.H., J.-D.K., O.K., L.L., G.L.G., H.L., M.H., T.C., T.M., M.S., P.F., V.J., L.T., L.-P.Z., L.W., and the members of the FRENVEX group contributed to patient care and clinical data acquisition. All authors critically reviewed and approved the final version of the manuscript.

Corresponding author

Correspondence to Lin-Pierre Zhao.

Ethics declarations

Competing interests

The authors declare no competing interests.

Ethical consent

Informed consent was not required as patients were managed according to standard procedures, and data were collected and analyzed retrospectively. The study was conducted in compliance with the Good Clinical Practices Protocol and the Declaration of Helsinki principles. This study received approval from Comité d’Ethique de la Recherche (CER) Paris Nord, Institutional Review Board -IRB 00006477- of HUPNVS, Paris 7 University, AP-HP (No. CER-2022-194).

Patient and public involvement

Patients were not involved in the design, conduct, reporting, or dissemination plans of this research.

Additional information

Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Supplementary information

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Zhao, LP., Kosmider, O., Heiblig, M. et al. Characteristics and prognostic significance of myelodysplasia-related features in VEXAS syndrome. Leukemia (2026). https://doi.org/10.1038/s41375-025-02858-2

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Version of record:

  • DOI: https://doi.org/10.1038/s41375-025-02858-2

Search

Quick links