Mutational analysis of the IkappaBalpha gene in activated B cell-like diffuse large B-cell lymphoma

Br J Haematol. 2004 Jul;126(1):50-4. doi: 10.1111/j.1365-2141.2004.05000.x.

Abstract

The lymphoma cells of the activated B cell-like (ABC-) subtype of diffuse large B-cell lymphoma (DLBCL) show constitutive activity of the transcription factor, nuclear factor kappaB (NFkappaB). We sought to determine whether mutations in the IkappaBalpha gene - the predominant inhibitor of NFkappaB - might play a role in the pathogenesis of ABC-DLBCL. All exons of the IkappaBalpha gene were directly sequenced from 10 cases of immunohistochemically classified ABC-DLBCL and from six non-ABC-DLBCL cases. Two novel polymorphisms were identified, based on their presence in tumour as well as non-tumour DNA of the respective patients: a duplication near the transcriptional start and a single nucleotide exchange in exon 1. A somatic missense mutation was identified in exon 3, in addition to a wild-type sequence in only one ABC-DLBCL case. Thus, also in this case no clonal biallelic inactivating mutation was present in the IkappaBalpha gene. We conclude that mutations in the IkappaBalpha gene do not play a dominant role in the pathogenesis of ABC-DLBCL.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Mutational Analysis*
  • Humans
  • I-kappa B Proteins / genetics*
  • Immunophenotyping / methods
  • Lymphoma, B-Cell / genetics*
  • Lymphoma, Large B-Cell, Diffuse / genetics*
  • NF-KappaB Inhibitor alpha
  • Polymorphism, Genetic*

Substances

  • I-kappa B Proteins
  • NFKBIA protein, human
  • NF-KappaB Inhibitor alpha