Bessenyei Beata, Ujfalusi Aniko, Balogh Erzsebet, Olah Eva, Szegedi Istvan, Kiss Csongor
Clinical Genetic Center, Department of Pediatrics, University of Debrecen Medical and Health Science Center, Debrecen, Hungary.
Cancer Genet. 2011 Apr;204(4):207-10. doi: 10.1016/j.cancergencyto.2010.10.005.
Acquired jumping translocations (JTs) are rare secondary aberrations occurring in various hematological malignancies. In Burkitt lymphoma/leukemia (BL) chromosome 1q abnormalities such as partial or whole arm duplications/translocations are frequently associated with the disease-specific t(8;14)(q24;q32). JTs of 1q are considered to have a bad prognostic impact in BL. We report clinical, conventional and molecular cytogenetic findings of a 12-year-old boy who presented with BL. In addition to the primary aberration, t(8;14)(q24;q32), JT of 1q onto chromosomes 21 and der(14) as well as the formation of isochromosome 1q could be detected in his bone marrow sample. Despite the expected poor prognostic outcome of these aberrations, the patient has been experiencing an event free survival of 7.5 years at the time of the present report, reflecting the excellent clinical outcome of the disease.
