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

RESULTS

In our study, allele burden quantification was performed during the initial diagnostic work-up. Based on the amount of mutational load, the patients were divided into three groups: those with <10.0% mutational load, those with a mutational status of 10.0-50.0% and those with >50.0% mutational load. Clinical and laboratory data at diagnosis were obtained from the patients’ charts according to the protocol approved by the Institutional Review Board of the University Clinic of Hematology, Skopje, RN Macedonia. Our study showed that the median allele burden was the lowest in patients with ET (25.8%), followed by PV patients (34.6%) and PMF patients (51.8%) (p <0.01) with a statistically significant difference of the percentage of mutant alleles between ET and PMF patients (p <0.00001), between PMF and PV patients (p <0.05), but not between ET and PV patients (p = 0.38) (Figure 2 and Table 1). The comparison between the clinical and hematological findings in JAK2V617F+ET and the allele burden of the JAK2V617F is presented in Table 2. In the group of 71 ET patients, 14 (19.7%), 50 patients (70.4%) and seven patients (9.9%) had a mutational load of <10.0, 10.0-50.0 and >50.0%, respectively. No association was observed between the allele burden and the clinical and laboratory features in the ET group. The clinical and hematological findings in JAK2 V617F+ PV in association with the allele burden of the JAK2 V617F are presented in Table 3. In 17 patients with PV, four (23.5%), eight (47.1%) and five (29.4%) patients had mutational loads of <10.0, 10.0-50.0 and >50.0%, respectively (p <0.7). The comparison of the allele burden with hematological parameters in the PV group, revealed the highest platelet count in PV patients with a mutational load of 10.0-50.0% (578.8, range 371.9-785.8) (for overall comparison p <0.05), but no significant correlation was found in the hemoglobin (Hb) level, packed cell volume (PCV) and white blood cell (WBC) counts. In the group of PMF patients, a higher mutational load was associated with older age (53.3, range 12.3-94.3, 60.6, range 53.2-67.9, and 69.2, range 65.6-72.9, for mutational load <10.0, 10.0-50.0 and >50.0%, respectively). The results showed that PMF patients with a mutational load of 10.0-50.0 and >50.0%, had a higher WBC count than those with a mutational load of <10.0% (12.8, range 3.5-13.8, 17.8, range 8.3-17.2, and 8.6, range 14.1-21.7, respec-tively). No statistically significant difference was observed in the comparison of the platelet (plt) count, PCV and Hb levels between patients with a mutational load of <10.0, 10.0-50.0 and >50.0% (Table 4).



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