Nye molekylære markører ved de kroniske myeloproliferative sygdomme: II. Janus tyrosinkinase 2-mutationen

Translated title of the contribution: New molecular markers within the chronic myeloproliferative disorders. II: The JAK2 mutation

Thomas Stauffer Larsen*, Niels Pallisgaard, Jacob Haaber Christensen, Paul Gram-Hansen, Gitte B. Kerndrup, Michael Boe Møller, Hans Carl Hasselbalch

*Corresponding author for this work

Research output: Contribution to journalReviewpeer-review

Abstract

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.

Translated title of the contributionNew molecular markers within the chronic myeloproliferative disorders. II: The JAK2 mutation
Original languageDanish
JournalUgeskrift for Laeger
Volume168
Issue number39
Pages (from-to)3299-3303
Number of pages5
ISSN0041-5782
Publication statusPublished - 25 Sep 2006
Externally publishedYes

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