Determination of the JAK2 V617F mutation in thrombosis patients

Abstract

Background: Janus kinase 2 (JAK2) gene mutation causes uncontrolled myeloproliferation independent of cytokines and abnormal formation of the endogenous erythroid colony. JAK2 mutations were frequently observed in myeloproliferative neoplasms (MPNs), especially in polycythemia vera (PV) and essential thrombocythemia (ET). MPNs represent a risk factor for the development of thrombosis that is a significant cause of morbidity and mortality in patients. Materials and methods: We aimed to study the correlation between JAK2 mutation and thrombosis. Thirty-nine patients with a clinical diagnosis of thrombocytosis and Budd-Chiari syndrome were collected to determine the JAK2 V617F mutation. Genomic DNA from all specimens was amplified and detected the presence of JAK2 V617F mutation by AS-PCR. Results: We demonstrated JAK2 V617F mutation in both patients with a clinical diagnosis of thrombocytosis and Budd-Chiari syndrome. We found that 11 of 37 (29.7%) thrombocytosis patients had a JAK2 V617F mutation. Moreover, one of two patients who represented as Budd-Chiari syndrome was positive for JAK2 V617F mutation. In addition, JAK2 V617F mutation was associated with thrombosis. However, further study in large series is needed to support this finding. Conclusion: Determination of the JAK2 V617F mutation may be helpful for screening latent or occult MPNs patients who have an occurrence of thrombosis to adjust the appropriate treatment for good patient outcomes.