Identification of recurrent genetic disorders in myeloproliferative neoplasms using an integrated genomics approach.

The recent discoveries of the FIP1L1-PDGFRA fusion gene in chronic eosinophilic leukemie (CEL) and the JAK2 V617F mutation in polycythemia vera (PV), essential trombocytosis (ET) and primary myelofibrosis (PMF) greatly improved the insights on the molecular pathogenesis of these malignancies. However, a significant proportion of CEL, ET and PMF remains unexplained. We will apply novel genome-wide technologies in a directed and integrated way on patients with ET and hypereosinophilia to discover new, important mutations that have a role in the onset of progression of the disease. This might lead to the recognition of previously unidentified genetic, clinical and biological entities, and can improve the current insights on the role of JAK2 in myeloproliferative neoplasms. Furthermore, these data might provide a starting point for novel therapies.

Keywords:Myeloproliferative neoplasms, Eosinophilia, JAK2 V617F, FIP1L1-PDGFRA, Essential thrombocytosis

Disciplines:Genetics, Systems biology, Molecular and cell biology