The allele burden of JAK2 mutations remains stable over several years in patients with myeloproliferative disorders.
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.
Theocharides
Alexandre
A
Experimental Hematology, Department of Biomedicine, University Hospital Basel, Basel, Switzerland.
Passweg
Jakob R
JR
Medinger
Michael
M
Looser
Renate
R
Li
Sai
S
Hao-Shen
Hui
H
Buser
Andreas S
AS
Gratwohl
Alois
A
Tichelli
André
A
Skoda
Radek C
RC
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
D053614:Janus Kinase 2; D006918:Hydroxyurea