Prevalence of JAK2 V617F Mutation in Iranian Patients with Myeloproliferative Neoplasms

Multiple lines of evidence have been suggested that JAK2 is likely the main candidate gene responsible for the pathogenesis of myeloproliferative neoplasms. The V617F mutation in the pseudokinase domain of JAK2 protein has been detected in a majority of patients. We aimed to evaluate the frequency of this somatic missense substitution among Iranian patients with myeloproliferative neoplasms.MethodsPeripheral blood samples were collected from patients with myeloproliferative neoplasms across different regions of Iran. The JAK2 V617F mutation was identified by allele-specific PCR. To confirm the PCR results, randomly selected positive and negative samples were sequenced.

Among 72 identified patients, 45 (62.5%) were found to harbor JAK2 V617F. The frequencies of the mutation ranged 100% for primary myelofibrosis, 75% for chronic myelogenous leukemia, 67% for polycythemia vera, 62.5% for myelodysplastic/myeloproliferative neoplasms, and 52% for essential thrombocythemia. Our findings revealed that the mutation was more common among men in comparison with women and the correlation between the mutation and gender was statistically significant (p-value<0.01). Additionally, the presence of JAK2 V617F was associated with older ages (p-value =0.009).

The JAK2 V617F mutation was detected in 62.5% of patients with myeloproliferative neoplasms. We have shown that this single acquired point mutation was presented in at least half of the patients. Hence, it seems that the identification of JAK2 V617F mutation in myeloproliferative neoplasms can be very effective in disease diagnosing and management.