High resolution SNP array genomic profiling of peripheral T cell lymphomas, not otherwise specified, identifies a subgroup with chromosomal aberrations affecting the REL locus

Sylvia Hartmann, Stefan Gesk, René Scholtysik, Markus Kreuz, Stefanie Bug, Inga Vater, Claudia Döring, Sergio Cogliatti, Marie Parrens, Jean Philippe Merlio, Anna Kwiecinska, Anna Porwit, Pier Paolo Piccaluga, Stefano Pileri, Gerald Hoefler, Ralf Küppers, Reiner Siebert, Martin Leo Hansmann

Research output: Contribution to journalArticlepeer-review

Abstract

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 (≥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 (≥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.

Original languageEnglish
Pages (from-to)402-412
Number of pages11
JournalBritish Journal of Haematology
Volume148
Issue number3
DOIs
Publication statusPublished - Feb 2010

Keywords

  • Genomic profiling
  • Non-Hodgkin-lymphoma
  • Peripheral T cell lymphoma NOS
  • REL
  • SNP array

ASJC Scopus subject areas

  • Hematology

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