RESUMO
Myeloproliferative neoplasms (MPNs) are clonal malignant diseases that represent a group of conditions including polycythemia vera (PV), essential thrombocythemia (ET), and myelofibrosis (MF). The JAK2-V617F mutation has been described as a frequent genetic event in majority of patients with MPNs. The aim of this study was to determine the frequency of JAK2-V617Fmutation in Sudanese patients with myeloproliferative disorders referred to Isotope Center, and to investigate the differences of laboratory parameters between patients with JAK2-V617F positive myeloproliferative neoplasms (MPNs) and JAK2 wild type MPNs. A total of 259 patients with MPNs; 159 with polycythemia vera (PV), 55 with essential thrombocytosis (ET) and 45 with primary myelofibrosis (PMF), and11 healthy adult individuals were enrolled in this study from March 2013 to November 2015. DNA was isolated from peripheral blood leukocytes by innuPREP kit, and JAK2-V617F mutation gene detected by allele specific PCR. The JAK2-V617F mutation was detected in 71% (184/259) patients with MPNs. The prevalence of the mutation was 81.7% in PV, 56.4% inET, and 51.1% in PMF. Mutation was not detected in 11 healthy adult people. The presence of JAK2-V617F was not associated with Hb level, Hct, or the platelet count for PV and ET, whoever the mutation positively correlated with high Hb (P=.039), Hct (P=.04) in PMF patients, and with high erythrocytes count in PV. The JAK2-V617F mutation can be frequently detected in the Sudanese patients with MPNs.