Single-center study on features of immune mediated diseases in JAK2 (V617F)-positive myeloproliferative neoplasms and the potential therapeutic role of JAK inhibitors.

Autores de IDIVAL

• 

  Ricardo Blanco Alonso

  Autor

  ricardo.blanco@scsalud.es

• 

  Diana Prieto Peña

  Autor

  diana.prieto@scsalud.es

• 

  Nerea Paz Gandiaga

  Autor

  nerea.paz@scsalud.es

• Lara Sánchez Bilbao

  Autor

• María Ana Batlle López

  Autor

  mana.batlle@scsalud.es

Autores ajenos al IDIVAL

• Álvarez-Reguera C
• Herrero-Morant A
• Fernández-López S

Abstract

OBJECTIVE: The Janus Kinase (JAK) 2 (V617F) mutation is the most frequently detected in myeloproliferative neoplasms (MPN). JAK2(V617F) mutation displays a pro-inflammatory phenotype that may be associated to a higher risk of immune mediated diseases (IMIDs), thromboembolic complications or other cancers. We aimed to evaluate the prevalence and main features of both rheumatic and non-rheumatic IMIDs in a cohort of MPNs patients with JAK2 (V617F) mutation. METHODS: Study of all patients diagnosed with MPNs and JAK2 (V617F) mutation at a tertiary hospital in Northern Spain from 2004 to 2022. We focused on patients with rheumatic IMIDs to assess the time from IMIDs diagnosis to the detection of JAK2V617F mutation, the clinical course and severity of the disease, potential thrombotic complications, malignancies and therapeutic response. RESULTS: 130 patients (73 men/57 women; mean age, 70.1 ± 14.5 years) were identified. Fifty-four (41.5 %) patients were diagnosed with at least one IMID. The prevalence of rheumatic IMIDs was 7.7 % (n = 10), including rheumatoid arthritis (n = 4), polymyalgia rheumatica (n = 3), Sjögren syndrome (n = 1), antiphospholipid syndrome (n = 1) and autoinflammatory syndrome with WDR1 mutation (n = 1). Thrombotic complications were observed in 4 of these 10 patients. The clinical course of the rheumatic IMID was mild in most cases and responded to conventional immunosuppressive therapy. One patient was successfully treated with Baricitinib, a JAK1/JAK2 inhibitor. CONCLUSIONS: A high prevalence of rheumatic IMIDs is observed in patients with MPNs and JAK2 (V617F) mutation. JAK inhibitors might be a targeted therapy option in these patients.

Copyright © 2023. Published by Elsevier B.V.

Keywords

• Immune mediated diseases; JAK2V617F mutation; Myeloproliferative neoplasm; Thrombosis