Abstract

ASSESSMENT OF THE CHRONIC MYELOPROLIFERATIVE DISORDERS IN PATIENTS WITH CML JAK2V617F MUTATION FREQUENCY OF TABRIZ IN IRAN BY ARMS-PCR TECHNIQUE

Shahin Asadi* and Zeinab Gholami

ABSTRACT

Background: Chronic myeloproliferative disorders (MPDs) are a heterogeneous group of diseases in which a clonal disorder of hematopoietic stem cells leads to an increase in the level of production in one or more of the blood cell. JAK2V617F recently acquired mutations in many patients with chronic myeloproliferative disorders (MPDs) is described by changing G to T mutation at nucleotide 1849 in exon 12 of the JAK2 gene is located on chromosome 9 identified, which leads to substitution of the amino acid phenylalanine instead of valine at position 617 of the protein JAK2 is the purpose of this study to evaluate the frequency of these mutations in patients with MPDs was. Materials and Methods: In this study, 117 patients were evaluated MPD. In patients identify mutations by ARMS-PCR method. This method is a fast and easy test. Moreover, it is possible to distinguish between homozygous and heterozygous individuals with Mutation provides JAK2V617F. Patient information was obtained by questionnaire, records and sampling were carried out with the consent of the patient. Three patients were also sequencing. Results: Mutations in 6/86% (30/26) of patients with polycythemia vera, 6/46% (15/07) of patients with essential thrombocythemia, 5/61% (08/13) of patients with primary myelofibrosis and 14% (34/4 ) patients with chronic myeloid leukemia were identified. Polycythemia vera patients have a mutation, the white blood cells were significantly higher (p = 0.03). In addition, 16 of 26 patients with polycythemia vera JAK2-positive women with mutations associated with sex Showed.in other groups, no significant differences were found. The mutation was confirmed by sequencing. Conclusion: Our results are compatible with other studies and the highest prevalence of the mutation in polycythemia vera and lowest in chronic myeloid leukemia is identify. Discovery this mutation in the differential diagnosis, prognosis and prediction of response to treatment is useful opportunity to amend the criteria for diagnosis and provides a classification of disease.

Keywords: mutation, JAK2 chronic myeloid neoplasms, CML ARMS-PCR technique.