Characterization of JAK2V617F and the JAK2 46/1 germline haplotype in myeloproliferative neoplasms in a Saudi Arabian cohort: a case-based analysis - Report - MDSpire
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Analysis of JAK2V617F Mutation and JAK2 46/1 Germline Haplotype in Myeloproliferative Neoplasms Among a Saudi Arabian Population: A Case Study Approach
Clinical Report: Analysis of JAK2V617F Mutation and JAK2 46/1 Haplotype
Overview
This study characterizes the prevalence of JAK2V617F mutations and the distribution of the JAK2 46/1 haplotype in a Saudi Arabian cohort of myeloproliferative neoplasms (MPNs).
Background
Myeloproliferative neoplasms (MPNs) are clonal disorders of hematopoietic stem cells with substantial risk of progression to acute myeloid leukemia. The JAK2V617F mutation is a predominant driver in MPNs, while the JAK2 46/1 haplotype has emerged as a low-penetrance predisposition factor.
Data Highlights
MPN Subtype
TT Homozygotes (%)
CC Genotype (%)
ET
56.3
57.8
PV
-
50.0
PMF
-
75.0
Non-MPN Controls
-
54.8
Key Findings
JAK2V617F mutation was found in 13.1% of patients, with no significant sex difference.
80.7% of participants were carriers of the JAK2 46/1 haplotype.
51.5% of haplotype carriers exhibited TT homozygosity.
CC genotype was predominant in ET, PV, PMF, and non-MPN controls.
ET showed the highest proportion of TT homozygotes at 56.3%.
Clinical Implications
The findings highlight the importance of genetic screening for JAK2V617F and the JAK2 46/1 haplotype in patients with MPNs.
Conclusion
This study characterizes the genetic landscape of MPNs in a Saudi Arabian cohort.
