
TRANSLOCATION t(3;12)(q26;q21) IN JAK2V617F POINT
MUTATION NEGATIVE CHRONIC IDIOPATHIC
MYELOFIBROSIS: A CASE REPORT Mešanović S. Šahović H. Perić M. *Corresponding Author: Semir Mešanović, Ph.D., University Clinical Center Tuzla, Polyclinic for laboratory diagnostic,
Department of Pathology, Trnovac bb, 75000 Tuzla, Bosnia and Hezegovina. Tel.: +387-35-303-509. E-mail:
semir.mesanovic@ukctuzla.ba page: 63
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DISCUSSION
The incidence of chromosomal abnormalities
in CIMF varies from 30.0 to 75.0%. In nearly twothirds
of these patients, three cytogenetic aberrations
were seen: del(13q), del(20q) and partian trisomy 1q
[3]. Balanced chromosomal translocations in CIMF
are very rare events, however, several case reports
have been published [3,11-13]. Moreover, the 12q
rearrangements seem to be the most common translocation
karyotypic abnormalities in CIMF. Cho
and Hyun [14] cited a few articles which suggest
that two clustering breakpoints on chromosome 12q
(12q21 and 12q24) may be related to the etiology
of myelofibrosis. It is still unknown which genes
were involved, but this knowledge should help in
the identification of the genetic basis of this disease.
To the best of our knowledge, Huret [9] reported
the first balanced translocation t(3;12)(q26;q21) in
only one case to date, a 47-year-old male patient with
a treatment related acute myeloid leukemia (t-AML).
A balanced translocation involving the band 3q26,
contains the EVI1 gene. This gene sequence has a
role in cell cycle progression and in hematopoietic
differentiation [15]. The connection of an abnormal
karyotype with the prognosis of disease is questionable,
while some studies have supported, and other
studies have not favored it as a prognostic factor [16].
Taken together, these findings suggest that a gene on
bands 3q26 (EVI1 gene) and 12q21 are probably
involved in CIMF tumorigenesis. Performing the
JAK2 mutation as a molecular test with the highest
positive predictive value for the diagnosis of chronic
MPDs, is not a diagnostic gold standard for CIMF,
because the mutation may not be present in as many
as 40.0 to 60.0% of patients with CIMF [5,7,8,17].
However, this mutation screening test may be useful
to diagnose prefibrotic IMF and to differentiate IMF
from myelofibrosis caused by secondary causes [18].
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