JAK2 V617F mutation in Iranian patients with myeloproliferative neoplasms: clinical and laboratory findings

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The JAK2 V617F mutation has been described as a frequent genetic event among a majority of patients with polycythemia vera, essential thrombocythemia, and myelofibrosis. In this research, we evaluated the prevalence of the JAK2 mutation and its clinical and laboratory correlation in patients with myeloproliferative neoplasms. Materials and methods: A total of 615 patients with suspected myeloproliferative neoplasms (MPNs) were analyzed for the JAK2 V617F mutation. After DNA extraction, detection of the mutation was done using allele-specific PCR. Positive samples were subsequently analyzed with PCR-RFLP by the restriction endonuclease BsaXI. The patients were also analyzed for hematological indices. Results: Of 615 patients, 175 (28.4%) patients were positive for the JAK2 V617F mutation, whereas 440 (71.6%) patients were negative. The positive group included 79 (45.1%) patients with essential thrombocythemia, 62 (35.4%) patients with polycythemia vera, 27 (15.4%) patients with primary myelofibrosis, and 7 (4%) patients with unclassified MPNs. Conclusion: The frequency of the JAK2 mutation in our study is compatible with previous reports. JAK2 V617F mutation screening can be incorporated in the initial evaluation of patients suspected of having MPNs. The relationship between the JAK2 mutation and hematological indices can be used in new diagnostic and therapeutic strategies.


Key words: JAK2, mutation, myeloproliferative neoplasms

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