Biologie des syndromes myéloprolifératifs : classifications diagnostiques et nouveaux marqueurs moléculaires

Philadelphia negative myeloproliferative neoplasms (MPN) include polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). PV and ET are very chronic diseases while MFP is a more severe one. Long-term prognosis of MPN is related to the risk of hematologic transformation, but initial morbidity is mainly related to vascular complications. The discovery of the JAK2 V617F mutation has improved our knowledge on the pathophysiology of MPN and has changed diagnosis algorithms. With the recent discovery of CALR and MPL mutations, a molecular marker is currently found in 90% of cases. With the development of next-generation sequencing, other mutations are detected whose role is still poorly known, but which may be associated with a poor prognosis. Ten years after JAK2 V617F, and in the targeted therapies era, the identification of poor prognosis patients is one of the challenges in MPN.