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 download article in pdf format
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Abstract
The identification of the JAK2V617F mutation in several
distinct myeloproliferative neoplasms (MPNs) raised
the question how one single mutation incites expression
of at least three different clinical phenotypes, i.e., polycythemia
vera (PV), essential thrombocythemia (ET) and
primary myelofibrosis (PMF). In order to further evaluate
already published data on the correlation between mutant
JAK2V617F allele burden and specific hematological and
clinical parameters, we tested the level of the JAK2 mutation
in 134 JAK2+ patients with different MPNs. The patients
were diagnosed according to the 2008 WHO criteria
and followed for a median of 48 months. The JAK2 V617F
quantification was done with a real time polymerase chain
reaction (real time-PCR) method. The median allele burden
was lowest in ET (25.8%), followed by 34.6% in PV
and 51.8% in PMF patients (p<0.01). There was statistically
significant association between the mutational load
of 10.0-50.0% and blood count parameters in the PV patients
(p<0.05). In PMF patients the mutational load was
in correlation with older age and leukocyte count that
were higher in patients with the mutational load of 10.0-
50.0% and >50.0% compared to those with a mutational
load of <10.0%. There were no statistically significant
associations between the allele burden and blood counts
in the ET cohort. Our study confirmed an association between
the JAK2V617F allele burden and the distinct MPN
phenotypes, indicating unfavorable prognosis in patients
with a higher JAK2 allele burden. Our results suggest
that JAK2 quantification should be incorporated in the
diagnostic work-up of MPN patients as a useful tool for
optimal treatment decision.
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