JAK2 p.V617F Mutation in Myeloproliferative Neoplasms: One Mutation, Two Detection Techniques

              Polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF) are three typical non-BCR-ABL myeloproliferative neoplasms (MPNs), characterized by proliferation of one or more myeloid lineages. A major breakthrough in understanding the pathogenesis of these disorders have been made with the recent discovery of a single point somatic mutation, JAK2 (Janus kinase 2) p.V617F, in most of PV cases and about half of ET and PMF cases, leading to constitutive activation of the JAK-STAT pathway, which is crucial for proliferation of the bone marrow myeloid precursors. Shortly thereafter, several molecular techniques have been developed for studying JAK2 p.V617F mutation, as a diagnosis and prognosis marker of MPNs.

          Aim: our workshop intends to bring into discussion the most recent data regarding the molecular pathogenesis of the MPNs, in general, but of those JAK2 p.V617F- positive, in particular. The participants will have the opportunity to get involved themselves in the way of how is detected JAK2 p.V617F mutation in our genetics laboratory, by two molecular genetics techniques, namely PCR-RFLP (Polymerase Chain Reaction- Restriction Length Polymorphism) and tetra-primer PCR.

This workshop is financially supported by: