ISSN 2997-1036
International Journal of Hematology | Vol. 6, No. 12, December 2015 | pp. 89–96
DOI: 10.46882/2015/IJH/000072
Original Article
Title: Prevalence and clinical correlates of JAK2 V617F allele burden variations in primary myelofibrosis
Names of Authors: G. M. Babalola¹, I. N. Nwosu², K. S. Abubakar³
Authors’ Affiliations: ¹Department of Haematology and Blood Transfusion, Lagos University Teaching Hospital, Lagos, Nigeria; ²Department of Medicine, University of Nigeria, Nsukka, Nigeria; ³Department of Pathology, Bayero University, Kano, Nigeria
Abstract: The specific mutant allele burden of the JAK2 V617F mutation may influence the phenotypic expression and clinical severity of myeloproliferative neoplasms. This study cross-sectionally evaluated the relationship between quantitative JAK2 V617F allele burdens and baseline disease complications in 40 adult patients diagnosed with primary myelofibrosis. Genomic DNA was isolated from peripheral blood samples, and allele burdens were quantified utilizing real-time polymerase chain reaction assays. The overall prevalence of the JAK2 V617F mutation within this cohort was 62.5% (25 of 40). The median allele burden among positive cases was 42.4%. Patients demonstrating a high allele burden (≥ 50.0%) exhibited significantly higher baseline white blood cell counts and an increased prevalence of massive splenomegaly (> 10 cm below the costal margin) compared to low allele burden variants (P < 0.05). Conversely, a high allele burden correlated with lower overall survival metrics due to accelerated leukemic transformation. Quantifying driver mutation percentages provides valuable prognostic insights, helping clinicians identify primary myelofibrosis patients at high risk for thromboembolic and fibrotic progression.
Keywords: Primary myelofibrosis, JAK2 V617F mutation, allele burden, splenomegaly, molecular prognosis
Manuscript Timeline: Received: September 10, 2015; Revised: October 18, 2015; Accepted: November 05, 2015; Published: December 14, 2015