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

CONCLUSIONS

Many studies showed that karyotypic aberrations occur in 32.0 to 48.0% of CIMF patients at diagnosis. The most frequently detectable cytogenetic abnormalities are structural and numerical changes of chromosomes 1, 5, 7, 8, 9, 13 and 20. In this study, we report the first case of CIMF with translocation t(3;12)(q26;q21). Further studies are required to determine the genes involved in this chromosome breakpoint. This knowledge should help in the identification of the genetic basis of the CIMF pathogenesis.



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