title: JAK2 V617F allele burden quantified by real time quantitative polymerase chain reaction and competitive polymerase chain reaction in patients with chronic myeloproliferative neoplasia.
abstract: Assessing the clinical significance of JAK2 V617F mutant allele burden is complicated by a myriad of techniques reported to detect and quantify the mutation. As a consequence, the level of sensitivity and how the data is reported vary. Harmonization of well-defined molecular studies would permit evaluation of the clinical significance of measuring allele burden and rapid determination of the efficacy of novel agents for the treatment of chronic myeloproliferative neoplasia via multicenter clinical trials, at the subclinical level. Here we report a comparison between the widely available TaqMan quantitative real time polymerase chain reaction (Q-PCR) and competitive PCR (C-PCR) assays. We found that the tumor load was invariably greater when measured by C-PCR compared to that recorded by Q-PCR. Furthermore, none of the samples converted from undetectable to detectable when the enriched granulocyte (GR) fraction was tested. While a difference in the V617F allele levels was detected between GR fraction and whole blood, this was not statistically significant.
authors.affiliation: Medizinische Klinik m.S. Hämatologie und Onkologie, Charité Campus Virchow Klinikum , Berlin , Germany.
authors.forename: Jaspal
authors.initials: J
authors.lastname: Kaeda
authors.forename: Martin
authors.initials: M
authors.lastname: Bonamino
authors.forename: Jackline
authors.initials: J
authors.lastname: Ayres-Silva
authors.forename: Cristiana
authors.initials: C
authors.lastname: Solza
authors.forename: Frauke
authors.initials: F
authors.lastname: Ringel
authors.forename: Olga
authors.initials: O
authors.lastname: Blau
authors.forename: Ademo
authors.initials: A
authors.lastname: Daumas
authors.forename: Christian
authors.initials: C
authors.lastname: Oberender
authors.forename: Bernd
authors.initials: B
authors.lastname: Dörken
authors.forename: Philipp
authors.initials: P
authors.lastname: le Coutre
authors.forename: Ilana
authors.initials: I
authors.lastname: Zalcberg
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D005260:Female; D006098:Granulocytes / Q000378:metabolism; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D007963:Leukocytes, Mononuclear / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000175:diagnosis / Q000235:genetics*; D016133:Polymerase Chain Reaction; D060888:Real-Time Polymerase Chain Reaction; D055815:Young Adult
chemical_list: D053614:Janus Kinase 2