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Nye molekylaere markörer ved de kroniske myeloproliferative sygdomme. II. Janus tyrosinkinase 2-mutationen
Engelsk titel: New molecular markers within the chronic myeloproliferative disorders. II: The JAK2 mutation Läs online Författare: Stauffer Larsen T ; Pallisgaard N ; Haaber Christensen J ; Gram-Hansen P ; Kerndrup GB ; Möller MB ; Hasselbalch HC Språk: Dan Antal referenser: 40 Dokumenttyp: Översikt UI-nummer: 06091989


Ugeskrift for Laeger 2006;168(39)3299-303 ISSN 0041-5782 E-ISSN 1603-6824 KIBs bestånd av denna tidskrift Denna tidskrift är expertgranskad (Peer-Reviewed)


The Philadelphia-negative chronic myeloproliferative disorders feature autonomous myeloid hyperproliferation and hypersensitivity to a number of growth factors, which most recently have been shown to be explained by a guanine-to-thymidine mutation in the Janus tyrosine kinase (JAK2 ) gene, implicating that phenylalanine is substituted with valine in position 617 (V617F mutation). JAK2 is of particular importance to haematopoiesis, since JAK2 proteins are activated mainly by the haematopoietic growth factors. The JAK2 mutation is present in most patients with polycythaemia vera and about 50% of patients with essential thrombocytosis and idiopathic myelofibrosis.The identification of the JAK2 mutation is a major molecular breakthrough in the understanding of the pathobiology of these disorders, and it is a new molecular marker to be used in the future classification of the diseases as well as a simple and rapid diagnostic test. The mutated JAK2 tyrosine kinase is an obvious potential target for a small-molecule inhibitor of tyrosine kinase activity.