We report a case of Richter transformation of a chronic lymphocytic leukemia with a 22q13 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. (C) 2000 Elsevier Science Inc. All rights reserved.
A 12q13 translocation involving the HMGI-C gene in richter transformation of a chronic lymphocytic leukemia / B., Santulli; B., Kazmierczak; R., Napolitano; I., Caliendo; G., Chiappetta; V., Rippe; J., Bullerdiek; Fusco, Alfredo. - In: CANCER GENETICS AND CYTOGENETICS. - ISSN 0165-4608. - STAMPA. - 119:(2000), pp. 70-73. [10.1016/S0165-4608(99)00205-8]
A 12q13 translocation involving the HMGI-C gene in richter transformation of a chronic lymphocytic leukemia
FUSCO, ALFREDO
2000
Abstract
We report a case of Richter transformation of a chronic lymphocytic leukemia with a 22q13 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. (C) 2000 Elsevier Science Inc. All rights reserved.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.