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Mutational analysis of the I κ B α gene in activated B cell‐like diffuse large B‐cell lymphoma
Author(s) -
Thomas Roman K.,
Wickenhauser Claudia,
Tawadros Samir,
Diehl Volker,
Küppers Ralf,
Wolf Jürgen,
Schmitz Roland
Publication year - 2004
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2004.05000.x
Subject(s) - diffuse large b cell lymphoma , exon , missense mutation , biology , gene , cancer research , gene duplication , mutation , lymphoma , large cell lymphoma , b cell , pathogenesis , genetics , immunology , antibody
Summary 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 κ B (NF κ B). We sought to determine whether mutations in the I κ B α gene – the predominant inhibitor of NF κ B – might play a role in the pathogenesis of ABC‐DLBCL. All exons of the I κ B α 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 I κ B α gene. We conclude that mutations in the I κ B α gene do not play a dominant role in the pathogenesis of ABC‐DLBCL.