JAK2V617F allele burden is associated with transformation to myelofibrosis

Abstract

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.

Keywords::

• JAK2V617F
• polycythemia vera
• PPVMF
• Ashkenazi
• neoplasm

Acknowledgement

We would like to thank Ms. Shlomit Gan for excellent statistical assistance.

Potential conflict of interest

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