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CHRONIC MYELOPROLIFERATIVE NEOPLASMS

Clinical features and genomic landscape of myeloproliferative neoplasm (MPN) patients with autoimmune and inflammatory diseases (AID)

Leukemia volume 37, pages 1741–1744 (2023)Cite this article

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Philadelphia Ph negative (Ph-) myeloproliferative neoplasms (MPN) are a heterogeneous group of clonal hematological disorders characterized by increased cellular proliferation and include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (MF) [1]. While MPN are mainly driven by a mutation in JAK2, CALR, or MPL genes, a majority of patients harbor additional somatic mutations that not only play a prevalent role in the disease phenotype but also impact patients’ prognosis [2].

Autoimmune and inflammatory diseases (AID), including recently described VEXAS (Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome caused by somatic mutations in UBA1 gene [3], have frequently been associated with myeloid malignancies [4]. Although a large registry-based study reported a higher incidence of developing MPN in patients with a history of AID [5], suggesting a correlative link, detailed data regarding AID characterization and extended genomic profiling in the context of MPN remain scarce. In this study, we describe the prevalence of AID in a large cohort of MPN patients and report the clinical spectrum and molecular landscape of MPN with associated AID, together with the prognostic impact of this association on MPN patients’ outcome.

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Fig. 1: Genomic landscape of MPN patients with AID and impact of AID associated on MPN patients’ prognosis.

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Acknowledgements

The authors thank the clinical care team of the Comprehensive Myeloproliferative neoplasms Center for samples and data collection, and the staff of the cellular biology laboratory for excellent technical assistance. The authors also thank the French Intergroup for Myeloproliferative neoplasms (FIM) for insightful discussions. LB, JJK and BC are supported by an “Association Laurette Fugain”, a “Féderation Leucémie Espoir”, a “Fondation ARC pour la recherche sur le cancer” and an “INCa Prev-Bio” funding. LB is a “CCA-INSERM-Bettencourt” and an “ATIP-Avenir” laureate.

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Author notes

  1. These authors contributed equally: Dikelele Elessa, Lin-Pierre Zhao.

  2. These authors jointly supervised this work: Arsene Mekinian, Lina Benajiba.

Authors and Affiliations

  1. Sorbonne Université, Service de médecine interne et inflammation, Saint-Antoine Hospital, APHP, Paris, France

    Dikelele Elessa, Olivier Fain & Arsene Mekinian

  2. Université Paris Cité, Clinical Investigations Center, Saint-Louis Hospital, APHP, Paris, France

    Lin-Pierre Zhao, Rafael Daltro de Oliveira, Juliette Soret-Dulphy, Clémence Marcault, Jean-Jacques Kiladjian & Lina Benajiba

  3. Université Paris Cité, Cellular biology Department, Saint-Louis Hospital, APHP, Paris, France

    Nabih Maslah, Emmanuelle Verger, Nathalie Parquet, Stéphane Giraudier & Bruno Cassinat

  4. INSERM UMR 1131, Saint-Louis Research Institute, Paris, France

    Nabih Maslah, Emmanuelle Verger, Stéphane Giraudier, Bruno Cassinat & Jean-Jacques Kiladjian

  5. Université Paris Cité, Hematology Department, Saint-Louis Hospital, APHP, Paris, France

    Pierre Fenaux, Lionel Adès & Emmanuel Raffoux

  6. INSERM UMR 944, Saint-Louis Research Institute, Paris, France

    Lina Benajiba

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  1. Dikelele Elessa
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Contributions

DE and LPZ collected and analyzed the clinical and molecular data. NM, EV, LPZ and BC performed molecular analyses. RDO and CM collected the clinical data. JSD, NP, PF, LA, ER, SG, OF, JJK, AM and LB provided clinical care and patient samples. JJK, BC, AM and LB designed the study. LB and AM supervised the study, analyzed the data and wrote the manuscript. All co-authors reviewed, edited and critically discussed the manuscript. DE and LPZ contributed equally as co-first authors, the authorship order was assigned based on last name alphabetical order.

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Correspondence to Arsene Mekinian or Lina Benajiba.

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Elessa, D., Zhao, LP., de Oliveira, R.D. et al. Clinical features and genomic landscape of myeloproliferative neoplasm (MPN) patients with autoimmune and inflammatory diseases (AID). Leukemia 37, 1741–1744 (2023). https://doi.org/10.1038/s41375-023-01967-0

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