期刊
LEUKEMIA
卷 21, 期 9, 页码 1952-1959出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/sj.leu.2404854
关键词
JAK2(V617F); polycythemia vera; thrombosis
The aim of this study was to determine whether the burden of JAK2 (V617F) allele correlated with major clinical outcomes in patients with polycythemia vera ( PV). To this end, we determined JAK2 mutant allele levels in granulocytes of 173 PV patients at diagnosis. The mean ( +/- s. d.) mutant allele burden was 52% ( 729); 32 patients ( 18%) had greater than 75% mutant allele. The burden of JAK2 V617F allele correlated with measurements of stimulated erythropoiesis ( higher hematocrit, lower mean cell volume, serum ferritin and erythropoietin levels) and myelopoiesis ( higher white cell count, neutrophil count and serum lactate dehydrogenase) and with markers of neutrophil activation ( elevated leukocyte alkaline phosphatase and PRV- 1 expression). As compared to those with less than 25% mutant allele, patients harboring greater than 75% JAK2 V617F allele were at higher relative risk ( RR) of presenting larger spleen ( RR 4.7; Po0.001) or suffering from pruritus ( RR 3.1; Po0.001). In these patients, the risk of requiring chemotherapy ( RR 1.8; P 0.001) or developing major cardiovascular events ( RR 7.1; P 0.003) during follow up were significantly increased. We conclude that a burden of JAK2 (V617F) allele greater than 75% at diagnosis points to PV patients with high- risk disease.
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