title: JAK2 V617F mutation and PRV-1 overexpression: relevance in the diagnosis of polycythaemia vera and essential thrombocythaemia.
abstract: In the diagnosis of polycythaemia vera and essential thrombocythaemia, two molecular markers were described in the last decade: the overexpression of the PRV-1 gene and the V617F mutation in the JAK2 gene. In this study we assess their usefulness by comparing our test results with the available clinical data. We show that in the diagnosis of polycythaemia vera the JAK2 mutation screening is crucial, while testing for the PRV-1 overexpression is redundant. On the contrary, in the diagnosis of essential thrombocythaemia (ET), both JAK2 and PRV-1 show their usefulness.
authors.affiliation: Laboratorium hematologie en moleculaire biologie, ZNA Stuivenberg, Lange Beeldekensstraat 267, 2060 Antwerpen.
authors.forename: S
authors.initials: S
authors.lastname: Melis
authors.forename: S
authors.initials: S
authors.lastname: Vellinga
authors.forename: P
authors.initials: P
authors.lastname: Zachée
authors.forename: A C
authors.initials: AC
authors.lastname: Sierens
authors.forename: P J J C
authors.initials: PJ
authors.lastname: De Schouwer
mesh_terms: D015415:Biomarkers / Q000378:metabolism; D058851:GPI-Linked Proteins; D005786:Gene Expression Regulation / Q000502:physiology; D007519:Isoantigens / Q000378:metabolism*; D053614:Janus Kinase 2 / Q000235:genetics*; D008562:Membrane Glycoproteins / Q000378:metabolism*; D009154:Mutation; D009504:Neutrophils / Q000378:metabolism*; D011087:Polycythemia Vera / Q000175:diagnosis* / Q000378:metabolism; D011956:Receptors, Cell Surface / Q000378:metabolism*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012680:Sensitivity and Specificity; D013920:Thrombocythemia, Essential / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D014944:World Health Organization
chemical_list: D015415:Biomarkers; C407242:CD177 protein, human; D058851:GPI-Linked Proteins; D007519:Isoantigens; D008562:Membrane Glycoproteins; D011956:Receptors, Cell Surface; C507924:JAK2 protein, human; D053614:Janus Kinase 2