AB0825 JAK2 (V617F) MUTATION AND ASSOCIATION TO IMMUNE MEDIATED DISEASES. STUDY OF 130 PATIENTS FROM A SINGLE UNIVERSITY HOSPITAL

Background: Janus Kinases (JAK) are tirosin-kinases that can promote cytokine production in immune and hematopoietic cells. The JAK-2 (V617F) mutation is the most frequently detected myeloproliferative neoplasms (MPN) which include essential thrombocythemia (ET), polycythemia vera (PV), primary myelofibrosis (PMF) undifferenciated MPN. displays a pro-inflammatory phenotype may be associated to higher risk of mediated diseases (IMID), thromboembolic complications or other cancers (1-3). Objectives: To evaluate presence ) IMID (rheumatic non-rheumatic), b cancer and, c Deep vein thrombosis/ Venous thromboembolism (DVT/VTE) events cohort patients with positive mutation. Methods: We studied all diagnosed (V16F) single University Hospital between January, 2004 December, 2019. Results: study included 130 (73 men/57 women; mean age, 70.1±14.5 years). They were ET (n=64, 49.2%), PV 46 (35.4%), undifferentiated MPN (n=12, 9.2%) PMF (n=8, 6.1%). Of these patients, 54 (41.5 %) (44 non rheumatic 10 rheumatic) at least one IMID, (35.4%) different 36 (27.7%) DVT/VTE events. (Table 1/Figure 1 ). Conclusion: Due its prevalence potential complications, should taken into consideration when patient References: [1]Perner F, et al. Cells. 2019;8:854. [2]Xu Q, Clin Rheumatol. 2020 Jul 16. [3]Hasselbalch HC, 2020; 23;17(1):248. Table 1. Associated JAK2 Data n (%) Myeloproliferative (MPN (100 Essential (ET) 64 (49.2) Polycythemia (PV) (35.4) Undifferentiated 12 (9.2) Primary 8 (6.5) Non-rheumatic 44 (33.8 Diabetes mellitus 22 (50) Asthma (22.7) Psoriasis 6 (13.6) Crohn disease 2 (4.5) Autoimmune thyroiditis Rheumatic (7.7 Rheumatoid arthritis 4 (40) Polymyalgia rheumatica 3 (30) Sjögren (10) Antiphospholipid syndrome Adult-onset Still’s Malignancies Solid tumours // Hematologic malignancies Skin 13 (29.5) 9 (20.4) thrombosis/Venous 35 (26.9) Figure accordingly subtype neoplasm. n. ABBREVIATIONS: DVT/VTE: thromboembolism. ET: Thrombocythemia, IMID: Immune Mediated Diseases, PV: Vera; MPN: Neoplasms; PMF: myelofibrosis; UMPN: Undifferenciated neoplasms. Disclosure Interests: Carmen Álvarez-Reguera: None declared, Lara Sanchez-Bilbao: Ana Batlle-López: Sara Fernández López: Miguel Á. González-Gay Speakers bureau: Abbvie, Pfizer, Roche, Sanofi MSD., Grant/research support from: MSD, Janssen Ricardo Blanco Bristol-Myers, Janssen, Lilly MSD Roche