A 12q13 Translocation Involving the HMGI-CGene in Richter Transformation of a Chronic Lymphocytic Leukemia

Autor: Santulli, Basilia, Kazmierczak, Bernd, Napolitano, Raffaela, Caliendo, Irene, Chiappetta, Gennaro, Rippe, Volkhard, Bullerdiek, Jörn, Fusco, Alfredo
Zdroj: Cancer Genetics and Cytogenetics; May 2000, Vol. 119 Issue: 1 p70-73, 4p
Abstrakt: We report a case of Richter transformation of a chronic lymphocytic leukemia with a 12q13 translocation involving the HMGI-C gene. Fluorescence in situ hybridization analysis with the use of two different cosmid pools spanning the entire HMGI-C region showed that the breakpoint on chromosome 12 was located in the HMGI-C gene, presumably within intron 3. In fact, the 3′ region of HMGI-C had been translocated to a derivative chromosome 6. This translocation was not visible at the cytogenetic level. Immunohistochemical analysis performed on the bone marrow smear demonstrated the expression of the HMGI-C protein specifically in the blasts, suggesting that the aberrant expression of the HMGI-C gene might have an important role in the process of leukemogenesis.
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