Examining the Frequency of the JAK2 (V617F) Mutation in Patients with Myeloproliferative Diseases in North Eastern Iran and the Effect of Treatment Intervention

Background: Janus kinase 2 (JAK2) is a tyrosine kinase located in the cytoplasm that plays a critical role in the signal transduction of cytokines and growth hormones. The conversion of valine to phenylalanine at the polypeptide position 617 results in the JAK2 (V617F) mutation, which often found in patients with myeloproliferative neoplasms (MPNs). As a result of this mutation, JAK2 is constitutively activated leading to uncontrolled cell growth. The present study aimed to investigate the frequency and relationship of the JAK2 (V617F) mutation in a population of patients with MPNs in Iran. Methods: A total of 213 patients with myeloproliferative diseases (MPDs), were included in the study. Real-time PCR was used to detect the presence of the JAK2 (V617F) mutation in the genomic DNA isolated from patient peripheral blood samples. Results:  Of the 213 patients with MPDs, approximately 60 (28%) patients were positive for the JAK2 (V617F) mutation. Polycythemia Vera (PV, 42.11%) was the most common MPD, followed by Essential Thrombocythemia (ET, 29.82%), Primary Myelofibrosis (MF, 12.28%), and Chronic Myeloid Leukemia (CML, 10.5%). A significant relationship between all types of MPDs and the clinical course (p< 0.05) was observed. The relationship between age and gender among all types of MPD disease was not significant (p> 0.05). Conclusions: Of the examined cohort in North Eastern Iran, 28% of the patients with MPNs were found to have the JAK2 (V617F) mutation which determining the presence of the JAK2 (V617F) mutation helps to decide the correct form of treatment.