E-GEOD-50252 - Genomic profiling of Richter-syndrome Chronic Lymphocytic Leukemia

Released on 20 September 2013, last updated on 30 September 2013
Homo sapiens
Samples (146)
Array (1)
Protocols (4)
Richter syndrome (RS) occurs in up to 15% of patients with chronic lymphocytic leukemia (CLL). While RS, usually represented by the histologic transformation to a diffuse large B-cell lymphoma (DLBCL), is associated with a very poor outcome, especially when clonally related to the pre-existing CLL, mechanisms leading to RS have not been clarified yet. To better understand the pathogenesis of RS, we analyzed a series of cases including: 59 RS, 28 CLL-phase of RS, 315 CLL and 127 de novo DLBCL. RS demonstrated a genomic complexity intermediate between CLL and DLBCL. Cell cycle deregulation via inactivation of TP53 and of CDKN2A was a main mechanism in the histologic transformation from CLL-phase, being present in approximately half of the cases, and affected the outcome of the RS patients. A second major subgroup was characterized by the presence of trisomy 12 and comprised one third of the cases. While RS shared some of the lesions seen in de novo DLBCL, its genomic profile was clearly separate. The CLL-phase preceding RS had not a generalized increase in genomic complexity when compared with untransformed CLL, but it presented clear differences in the frequency of specific genetic lesions. Genomic profiling of Richter-syndrome Chronic Lymphocytic Leukemia
Experiment types
genotyping by array, comparative genomic hybridization by array 
Andrea Rinaldi, Francesco Bertoni, Ivo Kwee
Investigation descriptionE-GEOD-50252.idf.txt
Sample and data relationshipE-GEOD-50252.sdrf.txt
Raw data (19)Click to browse raw data
Additional data (1)E-GEOD-50252.additional.1.zip
Array designA-AFFY-142.adf.txt