Impact of JAK2 V617F allele burden on clinical and laboratory parameters in polycythemia vera

Year 2025, Volume: 7 Issue: 5, 559 - 562, 15.09.2025

Özlem Beyler , Cengiz Demir

https://doi.org/10.38053/acmj.1715880

Abstract

Aims: To investigate the association between the JAK2 V617F allele burden and clinical and laboratory parameters in polycythemia vera (PV) patients, focusing on its association with thrombotic events, disease severity, and systemic inflammatory markers.
Methods: This retrospective study included 71 patients with PV. Data were collected from medical records, including demographics, laboratory values, spleen size, and thrombotic history. Patients were stratified by JAK2 V617F allele burden into subgroups for comparative analysis. Quantitative polymerase chain reaction (PCR) was used to measure allele burden. Statistical analyses were performed using the Mann-Whitney U test, Kruskal-Wallis test, and Spearman correlation, with a significance level of p<0.05.
Results: The median JAK2 V617F allele burden was significantly higher in women than in men (9.53% vs. 2.00%, p=0.003). Patients with platelet counts ≥400×10⁹/L had a significantly higher allele burden than those with counts <400×10⁹/L (8.94% vs. 1.33%, p=0.019). There was no significant association between allele burden and thrombotic events (p=0.549) or splenomegaly (p=0.191).
Conclusion: JAK2 V617F allele burden is associated with certain laboratory parameters, including platelet count, and varies by gender in patients with PV. Although not significantly associated with thrombotic events or splenomegaly in this cohort, allele burden remains a potentially valuable biomarker for disease monitoring and individualised treatment.

Keywords

Polycythemia vera , janus kinase 2 , alleles

References

• Spivak JL. How I treat polycythemia vera. Blood. 2019;134(4):341-352. doi:10.1182/blood.2018834044
• Tefferi A, Vannucchi AM, Barbui T. Polycythemia vera: historical oversights, diagnostic details, and therapeutic views. Leukemia. 2021; 35(12):3339-3351. doi:10.1038/s41375-021-01401-3
• Patel AB, Masarova L, Mesa RA, Hobbs G, Pemmaraju N. Polycythemia vera: past, present and future. Leuk Lymphoma. 2024;65(11):1552-1564. doi:10.1080/10428194.2024.2361836
• Vannucchi AM, Antonioli E, Guglielmelli P, et al. Prospective identification of high-risk polycythemia vera patients based on JAK2(V617F) allele burden. Leukemia. 2007;21(9):1952-1959. doi:10. 1038/sj.leu.2404854
• Guglielmelli P, Loscocco GG, Mannarelli C, et al. JAK2V617F variant allele frequency >50% identifies patients with polycythemia vera at high risk for venous thrombosis. Blood Cancer J. 2021;11(12):199. doi:10.1038/s41408-021-00581-6
• Larsen TS, Pallisgaard N, Møller MB, Hasselbalch HC. The JAK2 V617F allele burden in essential thrombocythemia, polycythemia vera and primary myelofibrosis--impact on disease phenotype. Eur J Haematol. 2007;79(6):508-515. doi:10.1111/j.1600-0609.2007.00960.x
• Stein BL, Williams DM, Wang NY, et al. Sex differences in the JAK2 V617F allele burden in chronic myeloproliferative disorders. Haematologica. 2010;95(7):1090-1097. doi:10.3324/haematol.2009.014407
• Karantanos T, Chaturvedi S, Braunstein EM, et al. Sex determines the presentation and outcomes in MPN and is related to sex-specific differences in the mutational burden. Blood Adv. 2020;4(12):2567-76. doi:10.1182/bloodadvances.2019001407
• Tefferi A, Rumi E, Finazzi G, et al. Survival and prognosis among 1545 patients with contemporary polycythemia vera: an international study. Leukemia. 2013;27(9):1874-1881. doi:10.1038/leu.2013.163
• Zhang Y, Zhou Y, Wang Y, et al. Thrombosis among 1537 patients with JAK2V617F-mutated myeloproliferative neoplasms: risk factors and development of a predictive model. Cancer Med. 2020;9(6):2096-2105. doi:10.1002/cam4.2886