JANUS KINASE V617F MUTATION DETECTION
IN PATIENTS WITH MYELOFIBROSIS
Nikolova D1,2,*, Yordanov A2, Damyanova V1,2, Radinov A2, Toncheva D1
*Corresponding Author: Dragomira Nikolova, Ph.D., Department of Medical Genetics, Medical Faculty,
Medical University Sofia, 2 Zdrave Street, 1431 Sofia, Bulgaria. Tel: +359888-103-456,
E-mail: dmb@abv.bg
page: 57
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RESULTS
Two hundred and thirty-two patients with chronic
myeloproliferative neoplasms have been genotyped for
their JAK2 V617F genotypic status. Eighty-two of 232
patients (35.4%) were diagnosed with ET, 35/232 (15.1%)
PV/EV, 38/232 (16.4%) MF/OMF (osteomyelofibrosis),
70/232 (30.1%) chromic MPN and 7/232 (3.0%) with other
hematological diseases (Figure 1). We performed analysis
of the bone marrow biopsy samples of patients with MF/
OMF (38 individuals) and in 20 of them (52.6%) the initial
diagnosis was confirmed. In six patients, the diagnosis
was rejected based on the negative result of the biopsy
sample (15.8%), five patients eventually proved to carry
ET (13.2%), six had PV (15.8%) and one had MPN (2.6%).
The mean age of the patients in our study was 62 years
(29-94 years), there was an equal distribution men:women
(10 vs. 10) (Table 1). According to the JAK2 genotype status:
8/20 (40.0%) were homozygous with the wild type allele
(NN) (men:women = 3:5); 9/20 (45.0%) were heterozygous
(MN) (men:women = 6:3) and 3/20 (15.0%) were homozygous
with the mutated allele (MM) (men:women = 1:2).
Overall, in 20 patients with MF, proven by trepanobiopsy,
12 (60.0%) (group 1) carried the mutant allele and
eight (40.0%) (group 2) did not. The mean age of patients
from group 1 was 61.4 years; men:women ratio was 7:5.
Patients in group 2 showed similar characteristics (mean
age 62.4 years; men:women ratio was 3:5).
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