JAK2V617F allele burden is associated with transformation to myelofibrosis

The JAK2V617F mutation has emerged in recent years as a diagnostic as well as treatment target in patients with polycythemia vera (PV). We analyzed JAK2V617F allele burden (JAK2^V617F) in a Jewish population with PV. Results were correlated with disease symptoms and complications. Median JAK2^V617F was 48% and 54% in patients of Ashkenazi and non-Ashkenazi origin, respectively (p = 0.75). Higher JAK2^V617F was seen in patients with imaging-proven splenomegaly (p = 0.01). A correlation between JAK2^V617F and the weekly hydoxyurea dose needed for disease control was found (p = 0.043). In addition, a trend for higher allele burden in patients with longer disease duration (p = 0.064) and those treated with cytoreductive drugs other than hydroxyurea (p = 0.056) was noted. Higher JAK2^V617F was seen in patients with transformation to myelofibosis (p = 0.0001), but not in patients with vascular complications. JAK2^V617F may assist in prognostic stratification of patients with PV.