title: A 12q13 translocation involving the HMGI-C gene in richter transformation of a chronic lymphocytic leukemia.
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.
authors.affiliation: A. O. San Giuseppe Moscati, Avellino, Italy.
authors.forename: B
authors.initials: B
authors.lastname: Santulli
authors.forename: B
authors.initials: B
authors.lastname: Kazmierczak
authors.forename: R
authors.initials: R
authors.lastname: Napolitano
authors.forename: I
authors.initials: I
authors.lastname: Caliendo
authors.forename: G
authors.initials: G
authors.lastname: Chiappetta
authors.forename: V
authors.initials: V
authors.lastname: Rippe
authors.forename: J
authors.initials: J
authors.lastname: Bullerdiek
authors.forename: A
authors.initials: A
authors.lastname: Fusco
mesh_terms: D002881:Chromosomes, Human, Pair 12; D002883:Chromosomes, Human, Pair 14; D005260:Female; D025743:HMGA2 Protein; D006609:High Mobility Group Proteins / Q000235:genetics*; D006801:Humans; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D025743:HMGA2 Protein; D006609:High Mobility Group Proteins; D009363:Neoplasm Proteins