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Series GSE50252 Query DataSets for GSE50252
Status Public on Sep 20, 2013
Title Genomic profiling of Richter-syndrome Chronic Lymphocytic Leukemia
Organism Homo sapiens
Experiment type Genome variation profiling by SNP array
SNP genotyping by SNP array
Summary 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.
Overall design Genomic profiling of Richter-syndrome Chronic Lymphocytic Leukemia
Contributor(s) Bertoni F, Rinaldi A, Kwee I
Citation(s) 24004666, 24004669
Submission date Aug 27, 2013
Last update date Nov 27, 2018
Contact name Francesco Bertoni
Phone +41 91 820 0367
Organization name IOR
Department Lymphoma & Genomics Research Program
Street address Via V. Vela 6
City Bellinzona
State/province Ticino
ZIP/Postal code 6500
Country Switzerland
Platforms (1)
GPL6801 [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
Samples (146)
GSM1216940 RS patient 09-012
GSM1216941 RS patient 09-014
GSM1216942 RS patient 09-015
BioProject PRJNA217442

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE50252_RAW.tar 3.8 Gb (http)(custom) TAR (of CEL)
GSE50252_RSCLLmatrix.txt.gz 1.4 Gb (ftp)(http) TXT
Processed data are available on Series record

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