Myeloproliferative Disorders

Recent studies have demonstrated the importance of the Jak-2 kinase, mutation in the pathogenesis of MPD. The mutation, a substitution of phenylalanine for valine at position 617 of the Jak-2 kinase results in transcriptional activation of cytokine receptor signaling pathways. It has been detected in 60% to 95% of patients with PRV, 55% of patients with MF, and 25% to 60% of patients with ET (6,7). CML is associated with the Philadelphia chromosome in most cases. In nearly all cases, the bcr-abl translocation is found using sensitive molecular techniques.

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