Molecular Abnormalities and Associated Clinical Features in Polycythemia Vera

Background/Objectives: Myeloproliferative neoplasms are a group of clonal myeloid malignancies that affect bone marrow and include polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). PV is caused in most patients by the JAK2-V617F mutation and is characterized at the phenotypic level by overproduction and accumulation of red blood cells. PV is associated with significant morbidity, including risk of thrombotic events and of hematologic evolution (myelofibrotic or leukemic transformation) and reduced survival. In addition to the JAK2-V617F mutation, PV patients display additional molecular abnormalities. The aim of this study is to review recent studies investigating molecular abnormalities observed in PV. Methods: An extensive search of the most recent literature was performed, selecting and critically analyzing the most relevant studies. Results: The studies carried out in recent years have provided an extensive molecular analysis of PV, showing its heterogeneity, characterized in many patients by the presence of additional cytogenetic and gene mutations that contribute to the disease development and evolution. Conclusions: PV is a complex disease that needs to be carefully characterized at the molecular level at diagnosis, to be monitored in time to predict the risk for thrombotic complications and hematologic evolution and to receive an adequate treatment.