JAK2V617F allele burden was prospectively measured in untreated patients with polycythaemia vera (PV, n= 26) or essential thrombocythaemia (ET, n= 36) and compared according to JAK2 46/1 haplotype status. The mean increase in JAK2V617F allele burden per year was 1%, 0.8% and 6% for PV patients with the JAK2 46/1 haplotype in negative, heterozygous and homozygous status, respectively (p< 0.001). The JAK2 46/1 haplotype had no influence in JAK2V617 allele burden in ET. In conclusion, untreated PV patients homozygous for the JAK2 46/1 haplotype show a progressive increase in the JAK2V617F allele burden during the evolution of the disease. © 2011 Elsevier Ltd.
- Allele burden
- Essential thrombocythaemia
- JAK2 46/1 haplotype
- Polycythaemia vera
Alvarez-Larrán, A., Angona, A., Martínez-Avilés, L., Bellosillo, B., & Besses, C. (2012). Influence of JAK2 46/1 haplotype in the natural evolution of JAK2V617F allele burden in patients with myeloproliferative neoplasms. Leukemia Research, 36(3), 324-326. https://doi.org/10.1016/j.leukres.2011.09.029