Abstract
Polycythemia rubra vera (PV), being a primary polycythemia, is caused by neoplastic proliferation of erythroid, megakaryocytic and granulocytic lineages which result in panmyelosis. PV patients have a somatic acquired mutation in the Janus kinase (JAK2) pathway, rendering cell proliferation independent of the normal regulatory mechanisms that regulate erythropoiesis. The rational of this study was to determine the prevalence of the JAK-2 V617F mutation in Pakistani patients with PV. In this cross sectional study, 26 patients with PV were enrolled from January 2010 to December 2014. Patients were diagnosed based on WHO criteria for PV. All were screened for G-T point mutation (V617F) in the JAK2 gene on chromosome 9 by an allele specific PCR. The mean age was 53.4±9.31 years (range 36-72) and the male to female ratio was 2:1. The frequency of JAK2 V617F positivity in our PV patients was found to be 92.3%. Overall 30.7% of patients were asymptomatic and remaining 69.3% presented with symptomatic disease. The mean hemoglobin was 18.1±1.9g/dl with the mean hematocrit of 55.6±8.3%. The mean total leukocyte count was 12.8±7.1x109/l and the platelet count was 511±341.9x109/l. A positive correlation of JAK2 V617F mutation was established with high TLC count (P=0.01). No correlation of JAK2 V617F could be established with age or gender (P>0.05). The JAK2 V617F mutation frequency in our PV patients was similar to those reported internationally. Screening for the mutation in all suspected PV cases could be beneficial in differentiating patients with reactive and clonal erythrocytosis.
Highlights
Myeloproliferative neoplasms (MPN) have been previously called myeloproliferative disorders are chronic, clonal hematopoietic stem cell group of disorders characterized by enhanced proliferation of one or more myeloid lineage cells (Sag et al, 2015; Yang et al, 2015)
The rational of this study was to determine the prevalence of the JAK-2 V617F mutation in Pakistani patients with Polycythemia rubra vera (PV)
Polycythaemia vera belongs to clonal myeloproliferative neoplasms, exemplified by increased red cell proliferation, hyperviscosity, thromboembolism and intermittently overt bleed (Zhang et al, 2014; Tefferi et al, 2015)
Summary
Myeloproliferative neoplasms (MPN) have been previously called myeloproliferative disorders are chronic, clonal hematopoietic stem cell group of disorders characterized by enhanced proliferation of one or more myeloid lineage cells (Sag et al, 2015; Yang et al, 2015). In 2005, researchers identified a somatic acquired mutation in the JAK2 gene on chromosome 9 which has been shown to be associated with various myeloproliferative neoplasms (Baxter et al, 2005; James et al, 2005). This identified point mutation is a G-C to T-A transversion, resulting in the substitution of valine by phenylalanine at codon 617 (JAK2V617F) (Sazawal et al, 2010). PV patients have a somatic acquired mutation in the Janus kinase (JAK2) pathway, rendering cell proliferation independent of the normal regulatory mechanisms that regulate erythropoiesis. Screening for the mutation in all suspected PV cases could be beneficial in differentiating patients with reactive and clonal erythrocytosis
Sign-in/Register to view highlights & summary 
Published Version (
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