Published online 11 September 2008
Haematologica, Vol 93, Issue 12, 1890-1893 doi:10.3324/haematol.13074
Copyright © 2008 by Ferrata Storti Foundation
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Myeloproliferative Disorders

The allele burden of JAK2 mutations remains stable over several years in patients with myeloproliferative disorders

Alexandre Theocharides1,2, Jakob R. Passweg3, Michael Medinger2, Renate Looser1, Sai Li1, Hui Hao-Shen1, Andreas S. Buser2, Alois Gratwohl2, André Tichelli4, Radek C. Skoda1

1 Experimental Hematology, Department of Biomedicine, University Hospital Basel, Basel
2 Division of Hematology, University Hospital Basel, Basel
3 Division of Hematology, University Hospital Geneva, Geneva
4 Division of Diagnostic Hematology, University Hospital Basel, Basel, Switzerland

Correspondence: Radek C. Skoda, MD, Department of Research, Experimental Hematology, University Hospital Basel, Hebelstrasse 20, 4031 Basel, Switzerland. E-mail:radek.skoda{at}unibas.ch

In a retrospective single center study we determined the time course of the JAK2-V617F or JAK2 exon 12 allele burden in DNA from purified granulocytes from 48 patients with myeloproliferative disorders. The percentage of change between the first and last sample in JAK2-V617F positive patients without cytoreductive therapy (n=16) was only +9% during a follow-up of 36±13 months, reflecting a remarkably stable mutant allele burden. When treatment with hydroxyurea was initiated during the course of the study, we observed a significant decrease of the JAK2-V617F allele burden (n=6). However, in JAK2-V617F positive patients who were already on hydroxyurea treatment before the first blood sampling (n=14), we observed stable allelic ratios with a variance of only +3% during a follow-up of 34±16 months. Our data suggest that in untreated myeloproliferative disorders patients, from whom samples at diagnosis are not available, the JAK2 allele burden determined at later stages could be equally informative.

Key words: Janus kinase, JAK2-V617F, hydroxyurea, interferon.




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