Polycythemia vera and essential thrombocythemia — diagnosis and therapy

Abstract

Polycythemia vera (PV) and thrombocythemia essentialis (ET) belong to the group of chronic myeloproliferative neoplasms termed BCR-ABL1-negative. Despite relatively a low incidence of PV and ET, they frequently pose a clinical treatment problem in hematology due to patients’ long overall survival. Although pathogenesis of these tumors is not fully understood, important progress has been achieved with recent identification of recurrent somatic mutations that are characteristic for these tumours. Firstly, it was established that almost all patients with PV and 50–60% of patients with ET harbour a JAK2 mutations. Mutations of calreticulin (CARL) gene were also discovered in a majority of patients with wild-type JAK2. Since the main cause of morbidity and mortality in PV and ET are thrombohaemorrhagic events, prevention of these complications is the most important goal of therapy. This paper reviews current recommendations for the diagnosis, and treatment of PV and ET as well as new prognostic scores for survival and thrombotic complications.