Author/Authors :
Santulli، نويسنده , , Basilia and Kazmierczak، نويسنده , , Bernd and Napolitano، نويسنده , , Raffaela and Caliendo، نويسنده , , Irene and Chiappetta، نويسنده , , Gennaro and Rippe، نويسنده , , Volkhard and Bullerdiek، نويسنده , , Jِrn and Fusco، نويسنده , , Alfredo، نويسنده ,
Abstract :
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.
