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

Theocharides, A. and Passweg, J. R. and Medinger, M. and Looser, R. and Li, S. and Hao-Shen, H. and Buser, A. S. and Gratwohl, A. and Tichelli, A. and Skoda, R. C.. (2008) The allele burden of JAK2 mutations remains stable over several years in patients with myeloproliferative disorders. Haematologica, 93 (12). pp. 1890-1893.

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Official URL: http://edoc.unibas.ch/dok/A6004269

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Abstract

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.
Faculties and Departments:03 Faculty of Medicine > Bereich Medizinische Fächer (Klinik) > Ehemalige Einheiten Medizinische Fächer (Klinik) > Hämatologie (Gratwohl)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Medizinische Fächer (Klinik) > Ehemalige Einheiten Medizinische Fächer (Klinik) > Hämatologie (Gratwohl)
03 Faculty of Medicine > Bereich Medizinische Fächer (Klinik) > Hämatologie > Hämatologie (Passweg)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Medizinische Fächer (Klinik) > Hämatologie > Hämatologie (Passweg)
03 Faculty of Medicine > Bereich Querschnittsfächer (Klinik) > Ehemalige Einheiten Querschnittsfächer (Klinik) > Diagnostische Hämatologie (Tichelli)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Querschnittsfächer (Klinik) > Ehemalige Einheiten Querschnittsfächer (Klinik) > Diagnostische Hämatologie (Tichelli)
03 Faculty of Medicine > Departement Biomedizin > Department of Biomedicine, University Hospital Basel > Experimental Hematology (Skoda)
03 Faculty of Medicine
UniBasel Contributors:Skoda, Radek C. and Tichelli, André and Gratwohl, Alois A. and Passweg, Jakob R. and Medinger, Michael
Item Type:Article, refereed
Article Subtype:Research Article
Bibsysno:Link to catalogue
Publisher:Ferrata Storti Foundation
ISSN:0390-6078
e-ISSN:1592-8721
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:03 Oct 2017 10:04
Deposited On:25 Apr 2014 08:00

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