
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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INTRODUCTION
The myeloproliferative diseases (MPDs) or myeloproliferative
neoplasms (MPNs) are a group of
diseases of the bone marrow in which excess cells are
produced. Essential thrombocythemia (ET), chronic
myelogenous leukemia (CML), polycythemia vera
(PV) and chronic idiopathic myelofibrosis (CIMF),
have almost similar laboratory and clinical features
and the most accurate way to differentiate them is a
study of cytogenetic or molecular abnormalities in
such patients. Chronic idiopathic myelofibrosis is a
stem cell defect characterized by splenomegaly with
multiorgan extramedullary hematopoiesis, immature
peripheral blood granulocytes and erythrocytes
and progressive bone marrow fibrosis [1]. Chronic
idiopathic myelofibrosis is also known as myelofibrosis
with myeloid metaplasia, agnogenic myeloid
metaplasia, myelosclerosis, osteosclerosis and a leukemic
myelosis. It is characterized by varying degrees
of bone marrow fibrosis and extramedullary
hemopoiesis, with concomitant anemia, poikilocytosis
with characteristic teardrop forms in peripheral
blood, and circulating immature granulocytes and
erythroblasts. Men are slightly more often affected
than women. The majority of patients are between
50 and 70 years of age [2]. The limited number
of cytogenetics studies reported in CIMF, at least
partly reflects the technical difficulties researchers
face when trying to obtain good cytogenetic preparations from fibrotic bone marrow. The most common
chromosomal abnormalities include numerical
changes of chromosomes 7, 8 and 9, and structural
changes of 1q, 5q, 13q and 20q. At least 75.0% of
patients with bone marrow abnormalities have one
or more of these chromosomal anomalies [3,4]. The
short arm of chromosome 9 contains Janus kinase 2
(JAK2), a gene recently identified to have a critical
gain of function mutation. The JAK2 mutation is a
tyrosine kinase that has an important role in the cell
signalling pathways [5-7]. Detection of the JAK2
mutation may be a potential major breakthrough for
understanding the pathobiology of MPNs, and is an
essential part of the diagnostic algorithm [8]. The
JAK2V617F point mutation frequency in patients with
polycythemia vera (PV) is more than 90.0%, and approximately
37.0-57.0% in patients with CIMF and
ET [5,8]. In this study, we describe a JAK2V617F mutation
negative CIMF case with chromosomal translocation
t(3;12)(q26;q21).To our knowledge, this is
the second described case with translocation t(3;12)
(q26;q21) [9], and the first case with such chromosomal
breakpoints in a patient with CIMF.
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