title: Polycythemia vera and its molecular basis: an update.
abstract: The molecular basis of polycythemia vera is discussed in the context of the JAK2 V617F mutation, in our view the most important advance in understanding the pathogenesis of polycythemia vera. This chapter discusses the nature of the JAK2 V617F mutation including the studies demonstrating its role in erythropoietin independence and hypersensitivity and endogenous erythroid colony formation. The evolving evidence that JAK2 V617F is not specific for polycythemia vera pathogenesis and the development of disease phenotype is presented as well as alternative candidates for pathogenic mutations such as the protein tyrosine phosphatases and SOCS-3. Finally, the clinical correlations and implications of the JAK2 V617F mutation are discussed.
authors.affiliation: University of Utah School of Medicine, Salt Lake City, Utah 84132, USA.
authors.forename: George
authors.initials: G
authors.lastname: Chen
authors.forename: Josef T
authors.initials: JT
authors.lastname: Prchal
mesh_terms: D006801:Humans; D053614:Janus Kinase 2; D009154:Mutation; D011087:Polycythemia Vera / Q000201:enzymology / Q000209:etiology / Q000235:genetics*; D017027:Protein Tyrosine Phosphatases / Q000235:genetics; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D000071223:Suppressor of Cytokine Signaling 3 Protein; D050826:Suppressor of Cytokine Signaling Proteins / Q000235:genetics
chemical_list: D011518:Proto-Oncogene Proteins; C106644:SOCS3 protein, human; D000071223:Suppressor of Cytokine Signaling 3 Protein; D050826:Suppressor of Cytokine Signaling Proteins; D011505:Protein-Tyrosine Kinases; C507924:JAK2 protein, human; D053614:Janus Kinase 2; D017027:Protein Tyrosine Phosphatases