Les syndromes myéloprolifératifs

Abstract

Summary Classic myeloproliferative disorders (MPDs) include chronic myeloid leukemia (CML), polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). The Philadelphia chromosome (hallmark of CML) fuses parts of the breakpoint cluster region (BCR) with the ABL gene. The resulting BCR-ABL gene encodes a fusion protein characterized by enhanced and constitutive tyrosine kinase activity. This oncoprotein is responsible for molecular and cellular events causing CML. Tyrosine kinase inhibitors are now successfully used in the treatment of CML and molecular monitoring has become essential in the management of the disease. Recently, the JAK2 V617F mutation was described in the majority of patients with PV and in about half of patients with ET or PMF. As for BCR-ABL in CML, the discovery of the JAK2 mutation has led to the design of molecular tools for diagnosis and monitoring, and to the development of targeted therapy (selective or not selective JAK2 inhibitors).