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

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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