High resolution SNP array genomic profiling of peripheral T cell lymphomas, not otherwise specified, identifies a subgroup with chromosomal aberrations affecting the REL locus.
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.
Hartmann
Sylvia
S
Senckenberg Institute of Pathology, University of Frankfurt, Theodor-Stern-Kai 7, D-60590 Frankfurt, Germany. s.hartmann@em.uni-frankfurt.de
Gesk
Stefan
S
Scholtysik
René
R
Kreuz
Markus
M
Bug
Stefanie
S
Vater
Inga
I
Döring
Claudia
C
Cogliatti
Sergio
S
Parrens
Marie
M
Merlio
Jean-Philippe
JP
Kwiecinska
Anna
A
Porwit
Anna
A
Piccaluga
Pier Paolo
PP
Pileri
Stefano
S
Hoefler
Gerald
G
Küppers
Ralf
R
Siebert
Reiner
R
Hansmann
Martin-Leo
ML
D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D020869:Gene Expression Profiling / Q000379:methods; D015329:Gene Rearrangement, T-Lymphocyte; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D016411:Lymphoma, T-Cell, Peripheral / Q000235:genetics* / Q000378:metabolism; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods; D020641:Polymorphism, Single Nucleotide; D020569:Proto-Oncogene Proteins c-rel / Q000235:genetics / Q000378:metabolism; D016693:Receptors, Antigen, T-Cell, alpha-beta / Q000235:genetics; D016019:Survival Analysis
D004273:DNA, Neoplasm; D020569:Proto-Oncogene Proteins c-rel; D016693:Receptors, Antigen, T-Cell, alpha-beta