Authors: YoungUk Cho HyunSook Chi EunHye Lee Seongsoo Jang ChanJeoung Park EulJu Seo
Publish Date: 2008/12/18
Volume: 89, Issue: 1, Pages: 39-44
Abstract
The JAK2 V617F mutation is present in most patients with polycythemia vera but in fewer patients with essential thrombocythemia ET We have assessed the frequency of this mutation in ET patients using amplification refractory mutation system PCR and determined the relationship of the mutation with disease phenotypes Clinicallaboratory findings and histomorphological features were compared according to mutational status in 108 ET patients The mutation was detected in 61 patients 565 including one homozygous patient Those with the mutation had significantly higher leukocyte P = 0003 and neutrophil P = 0007 counts However the incidences of thrombotic events and progression to advanced stages did not differ significantly between patients with and without the mutation Thrombotic events were significantly correlated with older age P = 0025 Morphological analysis revealed that erythroid hypoplasia was exclusively found in the mutationnegative patients P = 0027 We could confirm previous findings of higher leukocyte count in ET patients with JAK2 mutation but could not find any correlation with thrombotic events Therefore the detection of the mutation could characterize a subset of ET patients with distinct phenotype despite its clinical significance being still undetermined
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