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MYELODYSPLASTIC NEOPLASM

Skin lesions, arthritis, chondritis, and cytopenias

Leukemia volume 37, pages 1941–1942 (2023)Cite this article

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The pathogenesis of myelodysplastic syndrome (MDS) is intimately tied to excessive inflammatory activity in the bone marrow microenvironment, which can either directly or indirectly cause systemic inflammatory and autoimmune illnesses. Alternately, autoimmune/autoinflammatory diseases might promote clonal evolution and unbalanced bone marrow growth, both of which would promote the development of myeloid malignancy. These relationships raise the following query: are there any connections between myelodysplastic syndromes and autoimmune/systemic inflammatory disorders “hemato-inflammatory syndromes”? There are still many questions, including ones regarding its therapeutic strategy [1]. We have read with interest the perspective of the authors of the reference [2]. We believe that Fig. 2 is an excellent approximation to the hypothetical pathophysiology of VEXAS-MDS. We have a patient who exemplifies this interesting relationship. However, regarding Fig. 3 [2], we believe that incorporating the UBA1 mutation in the systematic molecular  assessment of all MDS currently does not contribute to defining a targeted treatment.

Sanger sequencing of DNA extracted from bone marrow samples showed a somatic mutation affecting methionine-41 of the UBA1 gene (Fig. 1E, F). Next-generation sequencing showed SRSF2 mutation with a variant allelic frequency of 3%. He started treatment with tocilizumab.

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Fig. 1: Key findings in VEXAS syndrome.

References

  1. Hochman MJ, DeZern AE. Myelodysplastic syndrome and autoimmune disorders: two sides of the same coin? Lancet Haematol. 2022;9:e523–34. https://doi.org/10.1016/S2352-3026(22)00138-7.

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  2. Zhao LP, Sébert M, Mékinian A, Fain O, Espéli M, Balabanian K, et al. What role for somatic mutations in systemic inflammatory and autoimmune diseases associated with myelodysplastic neoplasms and chronic myelomonocytic leukemias? Leukemia. 2023;37:1186–90. https://doi.org/10.1038/s41375-023-01890.

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Authors and Affiliations

  1. Department of Hematology, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid, Madrid, Spain

    Edwin U. Suárez, Elena Prieto, Carlos Soto & Carlos Blas

  2. Department of Rheumatology, Universidad de Cantabria, Santander, Spain and Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid, Madrid, Spain

    Miguel Ángel González-Gay

  3. Department of Dermatology, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid, Madrid, Spain

    Luis Requena-Caballero

Authors
  1. Edwin U. Suárez
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  2. Elena Prieto
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  3. Miguel Ángel González-Gay
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  4. Carlos Soto
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  5. Carlos Blas
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  6. Luis Requena-Caballero
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Contributions

EUS wrote and revised the paper, performed the literature search, and prepared the figure. EP critically revised the manuscript and helped with data collection. MAG-G critically revised the manuscript and performed the literature search. CS critically revised the manuscript and prepared the figure. CB critically revised the manuscript and prepared the figure. LR-C critically revised the manuscript and prepared the figure.

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Correspondence to Edwin U. Suárez.

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Suárez, E.U., Prieto, E., González-Gay, M.Á. et al. Skin lesions, arthritis, chondritis, and cytopenias. Leukemia 37, 1941–1942 (2023). https://doi.org/10.1038/s41375-023-01988-9

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  • DOI: https://doi.org/10.1038/s41375-023-01988-9

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