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Myeloproliferative neoplasms are a heterogeneous group of diseases most often represented by polycythemia vera (PV) and essential thrombocythemia (ET). Mutations in the JAK2 tyrosine kinase are observed in nearly all patients with PV and in half of those with ET. Treatment with pegylated interferon α-2a (PEG-IFN) has induced complete hematologic and molecular responses and decreased the JAK2V617F allele burden in some but not all patients.
To determine whether patients unresponsive to PEG-INF have mutations in genes lying outside the JAK2 pathway, investigators performed a follow-up of a phase II study of 83 patients (43 with PV and 39 with ET) treated with PEG-IFN (90 µg subcutaneously weekly).
The rate of complete hematologic response was 7…