Balkan Journal of Medical Genetics

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

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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