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.

Real‐Time PCR and Droplet Digital PCR: two techniques for detection of the JAK2V617F mutation in Philadelphia‐negative chronic myeloproliferative neoplasms

“…Indeed, qPCR found significant differences between ET and PMF (P = 0.046), ET and SMF (P = 0.017), while for the DD-PCR, significant differences were found between ET and PMF (P = 0.026), ET and SMF (P < 0.0001), PV and SMF (P = 0.001), PMF and SMF (P = 0.002). [17,18,25].…”

“…A higher mutated allele burden has been associated with increased risk of thrombosis and transformation into secondary myelofibrosis [15,16], in particular in patients with PV [17,18].…”

Consequences of the JAK2V617F allele burden for the prediction of transformation into myelofibrosis from polycythemia vera and essential thrombocythemia

“…Based on BM biopsy examination of all 34 MPN patients, we diagnosed 6 PV and 5 ET patients who developed secondary MF. The higher frequency of MF transformation observed in this cohort compared with other MPN cohorts [8,[10][11][12][13][14][21][22][23][24] was likely because the BM biopsies were performed in patients with MF transformation suspected from clinical symptoms or who exhibited a longer disease duration.…”

An accurate, simple prognostic model consisting of age, JAK2 , CALR , and MPL mutation status for patients with primary myelofibrosis

“…Interestingly, in a study of 68 patients with post-PV myelofibrosis, all patients carried a high JAK2 V617F allele burden, and 78% had an allele burden of more than 50%. 6,22 CALR mutations have been divided into two types. In PMF the type 1/type 1-like mutations are the most common ones.…”