Abstract
Abstract Objectives We aimed to investigate the prevalence of JAK2-V617F mutation and its association with hematologic parameters in polycythemia vera(PV), essential thrombocytosis(ET) and primary myelofibrosis(PMF) patients who have been tested for the mutation. Methods We retrospectively reviewed the records of 168 patients (82 males and 86 females) who were tested for JAK2-V617F mutation upon request of Hematology Clinic. JAK2-V617F mutation status, white blood cell (WBC) counts, platelet (PLT) counts, hemoglobin (Hb), hematocrit (Hct) levels and demographics of the patients were recorded. Results JAK2-V617F mutation was detected in 55.9% of the 168 patients. The mutation was observed in 58.2% of PV cases, in 54.4% of ET and in 54.5% of PMF cases. All patients were divided into two groups: mutation positive and negative. Age, WBC and PLT levels were significantly higher in mutation positive group (p<0.05). Age, WBC, Hb, Hct and PLT counts in PV cases with JAK2-V617F mutation, age and WBC counts in PMF cases with JAK2-V617F mutation were found to be significantly higher compared to mutation negative patients (p<0.05). Conclusion JAK2-V617F mutation is a very important parameter in diagnostic and prognostic evaluation. Thus, every patient suspected of having a myeloproliferative neoplasm should be screened for JAK2-V617F mutation.
Highlights
Myeloproliferative neoplasms (MPN) are characterized by the clonal, uncontrolled proliferation of one or more myeloerythroid cell lineages in bone marrow, and the rise in the number of mature and immature cells in the peripheral blood
We aimed to investigate the prevalence of Janus kinase 2 (JAK2)-V617F mutation which contributes to early diagnosis of Philadelphia-negative MPN and the relation between the mutation and some hematologic parameters
168 MPN patients screened for JAK2-V617F mutation were included in the study
Summary
Myeloproliferative neoplasms (MPN) are characterized by the clonal, uncontrolled proliferation of one or more myeloerythroid cell lineages in bone marrow, and the rise in the number of mature and immature cells in the peripheral blood. Key features of MPN are; increased red blood cells in PV, increased platelet count in ET, and bone marrow fibrosis in PMF. These three diseases share common features like hypercellularity in bone marrow, an increased risk for thrombosis, hemorrhages, and leukemic transformation [2]. The mutation is known as V617F causes tyrosine phosphorylation activity which leads to hypersensitivity to cytokines. This mutation makes the hematopoietic precursor cells hypersensitive to growth factors [5]. World Health Organization (WHO) listed the presence of JAK2-V617F mutation among PV, ET and PMF diagnosis criteria in 2008 and the association between the presence of the mutation and disease severity was established [1, 8]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
