Title: JAK2 V617F MUTATION STATUS AND ALLELE BURDEN IN SUDANESE PATIENTS WITH CHRONIC MYELOPROLIFERATIVE NEOPLASMS
Abstract: Background: The JAK2 V617F mutation is frequent in the majority patients with myeloproliferative neoplasms. The published studies regarding the impact of JAK2 V617F allele burden on phenotypic properties in PV, ET and primary myelofibrosis have reported variable results. The aim of this study was to determine the JAK2 V617F allele burden. Furthermore, we examined the association of quantitative JAK2 V617F allele burden with laboratory characteristics and clinical phenotype in Sudanese patients diagnosed with chronic myeloproliferative neoplasms. Methods: The study was conducted from 2013 to 2015. Peripheral blood samples of 259 patients with MPNs were involved: 159 with Polycythemia Vera, 55 with Essential Thrombocytosis and 45 with Primary Myelofibrosis. Allele specific polymerase chain reaction was used to screen the JAK2 V617F, and The quantitative real-time polymerase chain reaction (qRT-PCR) technology (Ipsogen JAK2 Muta Quant Kit, Germany) was used to determinate the percentage of mutated alleles in genomic DNA among JAK2 V617F positive MPNs. Laboratory and clinical parameters were obtained from patient's medical records. Results: The JAK2 V617F mutation was detected in 81.7%, 56.4%, and 51.1% of polycythemia vera, essential thrombocythemia, and primary myelofibrosis patients, respectively. The mean allele burden of JAK2 V617F for positive myeloproliferative neoplasms was (69.3% ± 32.8) in MF, (60.2% ± 33.4) in polycythemia vera and (31.5% ± 31.1) in essential thrombocythemia. The prevalence of JAK2 V617F mutation with high allele burden (i.e. mutant allele burden exceeded 50% relative to wild type) was 85 (53.4 %) of 159 in polycythemia vera patients, 7 (12.7%) of 55 essential thrombocythemia patients and 14 (31.1%) of 45 primary myelofibrosis patients. JAK2 V617F allele burden was correlate of with high white blodd cells in in polycythemia vera (p = .006), and lower platelet count in PV (p = .000) and primary myelofibrosis (p = .015). Conclusion:The allele burden of JAK2 V617F was significantly different significantly among MPNs subgroups(PV, ET and PMF). Key words: JAK2 V617F mutation, Sudanese Patients, Chronic Myeloproliferative Neoplasm
Publication Year: 2017
Publication Date: 2017-06-16
Language: en
Type: article
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Cited By Count: 1
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