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

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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