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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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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