Impact of JAK2V617F Mutational Status on Phenotypic Features in Essential Thrombocythemia and Primary Myelofibrosis

Abstract

INTRODUCTION: The JAK2V617F mutation is present in the majority of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF). The impact of this mutation on disease phenotype in ET and PMF is still a matter of discussion. This study aims to determine whether there are differences in clinical presentation and disease outcome between ET and PMF patients with and without the JAK2V617F mutation. METHODS: In this single-center study, a total of 184 consecutive Philadelphia-negative chronic myeloproliferative neoplasms, 107 cases of ET and 77 cases of PMF, were genotyped for JAK2V617F mutation using the JAK2 Ipsogen MutaScreen assay, which involves allele-specific polymerase chain reaction. RESULTS: ET patients positive for JAK2V617F mutation had higher hemoglobin (Hgb) and hematocrit (Hct) levels, lower platelet count and more prevalent splenomegaly at diagnosis compared to patients negative for the JAK2V617F mutation, but rates of major thrombotic events, arterial thrombosis and venous thrombosis were comparable between the two groups. At presentation, PMF patients with JAK2V617F mutation had significantly higher Hgb and Hct levels and leukocyte count than patients without the mutation. Similar to the findings of ET patients, thromboembolic rates were similar in PMF patients with and without the JAK2V617F mutation. For ET and PMF patients, no difference was observed in rates of death with respect to the JAK2V617F mutational status. Moreover, leukemic transformation rate was not different in our PMF patients with and without JAK2V617F mutation. DISCUSSION AND CONCLUSION: We conclude that JAK2V617F-mutated ET patients express a polycythemia vera-like phenotype and JAK2V617F mutation in PMF patients is associated with a more pronounced myeloproliferative phenotype.

Keywords

• jak2v617f mutation
• essential thrombocythemia
• primary myelofibrosis