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| 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.
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| Overall design |
Genomic profiling of Richter-syndrome Chronic Lymphocytic Leukemia
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| 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 |
| E-mail(s) |
francesco.bertoni@ior.usi.ch
|
| 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 |
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| Platforms (1) |
| GPL6801 |
[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array |
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| Samples (146)
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| Relations |
| BioProject |
PRJNA217442 |
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