EVALUATION OF THE JAK2V617F MUTATIONAL BURDEN
IN PATIENTS WITH PHILADELPHIA CHROMOSOME
NEGATIVE MYELOPROLIFERATIVE NEOPLASMS:
A SINGLE-CENTER EXPERIENCE Popova-Labachevska M1, Panovska-Stavridis I1,*, Eftimov A2, Kapedanovska Nestorovska A2,
Cevreska L1, Ivanovski M1, Ridova N1, Trajkova S1, Dimovski AJ2,* *Corresponding Author: Associate Professor Irina Panovska-Stavridis, M.D., Ph.D., University Clinic
of Hematology, UKIM-Faculty of Medicine, University Cyril and Methodious,” Majka Tereza 47, Skopje,
RN Macedonia. Tel/Fax: +38923111749. E-mail: ukhematologija@t.mk and/or Professor Aleksandar J.
Dimovski, M.D., Ph.D., Center for Biomolecular Pharmaceutical Analyses, UKIM-Faculty of Pharmacy,
University “Ss Cyril and Methodius,” Majka Tereza 47, Skopje, RN Macedonia. Tel/Fax: +38923119694.
E-mail: adimovski@ff.ukim.edu.mk page: 31
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MATERIALS AND METHODS
A total of 134 patients with JAK2V617F+MPNs,
namely, 17 patients with PV, 71 with ET and 46 with PMF,
who were diagnosed and followed at the University Clinic
of Hematology, Skopje, RN Macedonia, were included in
the study. The diagnosis was made according to the 2008
WHO criteria and the median follow up period was 48
months (range 12-216). The median age of the patients at
diagnosis was 53.5 years (range 19-88).
The presence of the JAK2V617 mutation was tested
with a fluorescent allele-specific polymerase chain reaction
(PCR) following procedures described in detail elsewhere
[8]. Representative results of quantification on the JAK2
V617F mutation level are shown in Figure 1. Each analysis
included four control samples with 0.3, 3.0, 23.0 and
75.0% of the mutant allele (obtained within the Inter-Laboratory
Quality Control Scheme organized by the MPN&
MPNr EuroNet in 2015) that were used for the creation of
JAK2V617F standard curves. All samples, including the
control samples, were analyzed in triplicate. The number
of copies of the mutant [CN(V617F)] and the wild type
[CN(WT)] alleles were calculated using the formulas
CN(V617F) = –antilog [Ct(V617F)-39,662)/3.6196] and
CN(WT) = –antilog [(Ct(WT)-37.847)/3.65], respectively,
where the Ct (threshold cycle) value for each sample was
the cycle in which the fluorescence of the sample crossed
the predetermined threshold (usually set to 0.1). The final
quantification of the amount of the mutant JAK2V617F in
each specimen was calculated according to the following
formula: %JAK2V617F = [CN JAK2V617F/(CNJAK2
V617F+CN JAK2 WT)] × 100.
The quantitative results of the JAK2 mutational status
were correlated with the different MPN entities and
the clinical and laboratory findings in each patient. The
correlation of the allele burden with various clinical parameters
was done by Mann-Whitney and Kruskal Wallis
student’s tests using the Statgraphics 4.3 software (www.
statpoint. com).
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