Koene H R, Biemond B J, van der Schoot C E
Academisch Medisch Centrum/Universiteit van Amsterdam, afd. Inwendige Geneeskunde, Amsterdam.
Ned Tijdschr Geneeskd. 2007 Aug 11;151(32):1784-7.
The identification of a point mutation in the JAK2 gene in most patients with polycythaemia vera (PV) has led to increased insight into the pathogenesis of the disease. The mutation causes cytokine-independent growth and proliferation of haematopoietic precursor cells, leading to erythrocytosis. The JAK2-V617F mutation is present in 65-97% of PV-patients and, when found, is indicative for the disease. Future research will have to show if the mutated gene can serve as a target for specific, antiproliferative therapy.
