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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Abstract
The myeloproliferative diseases (MPDs) or
myelo-proliferative neoplasms (MPNs) are a group
of diseases of the bone marrow in which excess
cells are produced. Chronic idiopathic myelofibrosis
(CIMF) is a stem cell defect characterized by splenomegaly
with multiorgan extramedullary hematopoiesis,
immature peripheral blood granulocytes and
erythrocytes and progressive bone marrow fibrosis.
The most common chromosomal abnormalities seen
in CIMF patients 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. Detection of the Janus kinase
2 (JAK2) mutation may be a potential major
breakthrough for understanding the pathobiology of
MPNs, and is an essential part of the diagnostic algorithm.
In this study, we describe a JAK2V617F mutation
negative CIMF patient who has the chromosomal
translocation t(3;12)(q26;q21) in her karyotype.
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