Updates in Polycythemia Vera

Abstract

Polycythemia vera (PV) is a chronic myeloproliferative neoplasm (MPN) characterized by erythrocytosis and clonal Janus kinase 2 (JAK2) V617F or JAK2 exon 12 mutations. The 2016 World Health Organization update has incorporated clinical and laboratory findings, molecular testing, and bone marrow pathology in its new classification, thereby improving the sensitivity to detect patients with PV and distinguishing the disease from other MPNs. Crystal structures and modeling of the JAK2 molecule have offered insight into possible therapeutic strategies with novel small molecules. These small molecules provide precision by affecting the mutated protein over the activity of wild type protein. Newer molecular techniques, especially next-generation sequencing, are revolutionizing molecular biology with the identification of somatic mutations modifying the course and prognosis of the disease. These mutations are found to have a potential role in responsiveness to therapy and may guide therapy decisions as well. Here we review recent advances in the clinical features, the diagnosis, the approaches, and the treatment of PV.