The clinical characteristics of Janus Kinase 2-positive myeloproliferative neoplasms in Saudi Arabia

BACKGROUND: Janus kinase 2 (JAK2) mutation is a major genetic aberration in 95% of patients with polycythemia vera (PV) and approximately 50% in those with essential thrombocythemia (ET). Previous studies have reported inconsistent findings regarding the effects of JAK2 mutations in myeloproliferative neoplasms (MPNs). OBJECTIVES: This study investigated the influence of JAK2 mutations on the clinical characteristics of MPNs in Saudi Arabia. MATERIALS AND METHODS: This retrospective study analyzed the clinical profiles of 71 Saudi patients diagnosed with JAK2-positive MPNs (28 PV and 43 ET) between 2021 and 2024. Data were collected from a laboratory database and stratified by disease subtype, gender, and risk category. Statistical analyses were performed to identify the differences in clinical features and outcomes. RESULTS: The mean age of the participants was 54 years, with no significant age difference between the PV and ET groups. The PV group was mostly male, while the ET group was mostly female. This study found that the rates of thrombosis, major hemorrhage, leukocytosis, polycythemia, and thrombocytosis in PV and ET were consistent with previous research. However, the mean leukocyte counts and proportion of patients with high-risk scores were significantly higher in the PV group than in the ET group. In addition, the mean platelet count with ET was significantly higher in female patients; however, the proportion of male ET patients with high-risk scores was higher. CONCLUSIONS: The research findings are consistent with prior studies and shed further light on the impact of JAK2 mutations on the clinical characteristics of MPNs.