Acquired Mutation of the Tyrosine Kinase JAK2 V617F in the ABL-BCR-Negative Chronic Myeloproliferative Diseases in a Population of West Azerbaijan Province, Iran

JAK2 V617F mutation presents in the majority of the ABL-BCR-negative chronic myeloproliferative disorders, nearly all the patients with polycythemia vera, about 50% of cases with essential thrombocytosis, or primary myelofibrosis, and 20% of patients with Philadelphia negative chronic myeloid leukemia. This mutation is an acquired and somatic point mutation and results in cytokine signaling as well as clonal hematopoiesis activation. This study was carried out to evaluate the JAK2 V617F mutation in patients with the ABL-BCR-negative chronic myeloproliferative disorders in the west Azerbaijan Province, Iran.
43 patients with the ABL-BCR-negative chronic myeloproliferative diseases entered the study. Peripheral blood samples were obtained for total DNAs and RNAs extraction via standard methods. The JAK2 V617F mutation was tested using amplification-refractory mutation system-polymerase chain reaction (ARMS-PCR) and allele-specific oligonucleotide-real time-polymerase chain reaction (ASO-RT-PCR) methods.
Findings: The frequency of JAK2 V617F mutation was 76.74% (33/43) in our samples using both methods.
Our results indicate that JAK2 V617F mutation is more frequent among patients with the ABL-BCR-negative chronic myeloproliferative diseases in Iranian west Azerbaijani patients. ARMS-PCR and ASO-RT-PCR methods are fast and inexpensive methods to recognize the JAK2 V617F mutation which is useful for management of patients with ABL-BCR-negative chronic myeloproliferative diseases.