High resolution SNP array genomic profiling of peripheral T cell lymphomas, not otherwise specified, identifies a subgroup with chromosomal aberrations affecting the REL locus
| Autor: | Stefanie Bug, Ralf Küppers, Sylvia Hartmann, Martin-Leo Hansmann, Anna Porwit, René Scholtysik, Sergio Cogliatti, Stefan Gesk, Marie Parrens, Markus Kreuz, Claudia Döring, Anna Kwiecinska, Reiner Siebert, Gerald Hoefler, Jean-Philippe Merlio, Inga Vater, Pier Paolo Piccaluga, Stefano Pileri |
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| Přispěvatelé: | Hartmann S, Gesk S, Scholtysik R, Kreuz M, Bug S, Vater I, Döring C, Cogliatti S, Parrens M, Merlio JP, Kwiecinska A, Porwit A, Piccaluga PP, Pileri S, Hoefler G, Küppers R, Siebert R, Hansmann ML. |
| Rok vydání: | 2009 |
| Předmět: |
Male
Receptors Antigen T-Cell alpha-beta Medizin Locus (genetics) Single-nucleotide polymorphism Biology Gene Rearrangement T-Lymphocyte Polymorphism Single Nucleotide Chromosome regions medicine Humans Gene In Situ Hybridization Fluorescence Oligonucleotide Array Sequence Analysis Genetics Chromosome Aberrations medicine.diagnostic_test Chromosomes Human Pair 10 Gene Expression Profiling Breakpoint Lymphoma T-Cell Peripheral Hematology DNA Neoplasm Survival Analysis Proto-Oncogene Proteins c-rel Chromosomes Human Pair 2 Gene chip analysis Female Chromosome Deletion SNP array Fluorescence in situ hybridization |
| Zdroj: | British journal of haematology. 148(3) |
| ISSN: | 1365-2141 |
| Popis: | Little is known about genomic aberrations in peripheral T cell lymphoma, not otherwise specified (PTCL NOS). We studied 47 PTCL NOS by 250k GeneChip single nucleotide polymorphism arrays and detected genomic imbalances in 22 of the cases. Recurrent gains and losses were identified, including gains of chromosome regions 1q32-43, 2p15-16, 7, 8q24, 11q14-25, 17q11-21 and 21q11-21 (< or = 5 cases each) as well as losses of chromosome regions 1p35-36, 5q33, 6p22, 6q16, 6q21-22, 8p21-23, 9p21, 10p11-12, 10q11-22, 10q25-26, 13q14, 15q24, 16q22, 16q24, 17p11, 17p13 and Xp22 (< or = 4 cases each). Genomic imbalances affected several regions containing members of nuclear factor-kappaB signalling and genes involved in cell cycle control. Gains of 2p15-16 were confirmed in each of three cases analysed by fluorescence in situ hybridization (FISH) and were associated with breakpoints at the REL locus in two of these cases. Three additional cases with gains of the REL locus were detected by FISH among 18 further PTCL NOS. Five of 27 PTCL NOS investigated showed nuclear expression of the REL protein by immunohistochemistry, partly associated with genomic gains of the REL locus. Therefore, in a subgroup of PTCL NOS gains/rearrangements of REL and expression of REL protein may be of pathogenetic relevance. |
| Databáze: | OpenAIRE |
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