نوع مقاله : مقاله های پژوهشی
1 کارشناس ارشد، گروه هماتولوژی، دانشکدهی پیراپزشکی، دانشگاه علوم پزشکی تهران، تهران، ایران
2 دانشیار، گروه هماتولوژی، دانشکدهی پیراپزشکی، دانشگاه علوم پزشکی تهران، تهران، ایران
3 استادیار، مرکز تحقیقات خون، انکولوژی و پیوند سلولهای بنیادی، دانشگاه علوم پزشکی تهران، تهران، ایران
عنوان مقاله [English]
Background: Myeloproliferative disorders are a group of diseases characterized by increased proliferation of myeloid lineage. In addition to JAK2V617F mutation, several mutations in the c-MPL gene were described in patients with Philadelphia-negative Chronic Myeloproliferative disorders (Ph-negative MPNs) that could be important in the pathogenesis of diseases. The aim of the present study was to investigate the frequency of c-MPL and JAK2V617F mutations in Iranian patients with Philadelphia-negative Myeloproliferative disorders.Methods: Peripheral blood samples from 60 patients with Philadelphia-negative Myeloproliferative disorders, subgroups of essential thrombocythemia (ET) and primary myelofibrosis (PMF) and 25 healthy subjects, as control, were taken. In order to investigate the mutation status of c-MPL and Jak2 V617F via using sequencing, the amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) and allele specific-polymerase chain reaction (AS-PCR) were used.Findings: Of the total of 60 patients, 34 (56.6%) and 1 (1.7%) had Jak2V617F and c-MPL mutations, respectively. Patients with Jak2V617F mutation had higher white blood cell (WBC) counts (P = 0.005) and hemoglobin concentrations than those without the mutation (P = 0.003). In addition, for all healthy subjects in control group, mutation was negative.Conclusion: The present study revealed that the c-MPL mutations, unlike the Jak2V617F mutations, are rare in Iranian patients with Philadelphia-negative Chronic Myeloproliferative disorders and the low mutation rate should be considered in the design of screening strategies of patients with myeloproliferative disorders.