title: The allele burden of JAK2 mutations remains stable over several years in patients with myeloproliferative disorders.
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.
authors.affiliation: Experimental Hematology, Department of Biomedicine, University Hospital Basel, Basel, Switzerland.
authors.forename: Alexandre
authors.initials: A
authors.lastname: Theocharides
authors.forename: Jakob R
authors.initials: JR
authors.lastname: Passweg
authors.forename: Michael
authors.initials: M
authors.lastname: Medinger
authors.forename: Renate
authors.initials: R
authors.lastname: Looser
authors.forename: Sai
authors.initials: S
authors.lastname: Li
authors.forename: Hui
authors.initials: H
authors.lastname: Hao-Shen
authors.forename: Andreas S
authors.initials: AS
authors.lastname: Buser
authors.forename: Alois
authors.initials: A
authors.lastname: Gratwohl
authors.forename: André
authors.initials: A
authors.lastname: Tichelli
authors.forename: Radek C
authors.initials: RC
authors.lastname: Skoda
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D005260:Female; D006098:Granulocytes; D006801:Humans; D006918:Hydroxyurea / Q000494:pharmacology / Q000627:therapeutic use; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000187:drug effects*; D009196:Myeloproliferative Disorders / Q000188:drug therapy / Q000235:genetics*; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: D053614:Janus Kinase 2; D006918:Hydroxyurea