Polycythemia vera and essential thrombocythemia: 2017 update on diagnosis, risk ‐stratification, and management

Abstract Disease overviewPolycythemia Vera (PV) and essential thrombocythemia (ET) are myeloproliferative neoplasms respectively characterized by erythrocytosis and thrombocytosis; other disease features include leukocytosis, splenomegaly, thrombosis, bleeding, microcirculatory symptoms, pruritus, and risk of leukemic or fibrotic transformation. DiagnosisPV is defined by a JAK2 mutation, whose absence, combined with normal or increased serum erythropoietin level, makes the diagnosis unlikely. JAK2, CALR, and MPL mutations are the mutually exclusive “driver” mutations in ET with respective incidences of 55%, 25%, and 3%; approximately 17% are triple‐negative. However, the same molecular markers might also be present in prefibrotic myelofibrosis, whose morphological distinction from ET is prognostically relevant. Survival and leukemic/fibrotic transformationMedian survivals are approximately 14 years for PV and 20 years for ET; the corresponding values for younger patients (age <60 years) are 24 and 33 years. Life‐expectancy in ET is inferior to the control population. Driver mutational status has not been shown to affect survival in ET whereas the presence of JAK2/MPL mutations has been associated with higher risk of arterial thrombosis and that of MPL with higher risk of fibrotic progression. Risk factors for overall survival in both ET and PV include advanced age, leukocytosis and thrombosis. Leukemic transformation rates at 20 years are estimated at <10% for P...
Source: American Journal of Hematology - Category: Hematology Authors: Tags: CME Information: Polycythemia vera and essential thrombocythemia: 2017 update on diagnosis, risk ‐stratification and management Source Type: research