Advances in understanding and management of polycythemia vera

Polycythemia vera is a relatively common myeloproliferative neoplasm (MPN) molecularly defined by the presence of mutations in the janus kinase (JAK2) gene. Yet, many aspects of pathogenesis remain to be ascertained and no effective treatment for curing the disease or preventing major cardiovascular events and progression to myelofibrosis or acute leukemia exists. The objective of this report is to review recent advances in the field and discuss the potential of novel therapeutic approaches.

The discovery of a specific germline haplotype in JAK2 provided an explanation for the well known phenomenon of familial clustering of MPN. Clinical trials with JAK2 inhibitors, either specific or not, have been initiated and first results are available. However, the expectation that these drugs could selectively target mutant cells and cause a molecular remission, similar to the experience with imatinib in chronic myelogenous leukemia, has been largely unmet. With the aim to develop common tools for clinicians involved in conventional and experimental therapies, a set of criteria for evaluating response to treatment have been developed.

The last couple of years have witnessed significant improvements in understanding polycythemia vera biology and management, and the activation or completion of novel trials are expected to provide further information to improve the treatment.