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Mutation analysis of the TNFAIP3 (A20) tumor suppressor gene in CLL
Author(s) -
Philipp Claudia,
Edelmann Jennifer,
Bühler Andreas,
Winkler Dirk,
Stilgenbauer Stephan,
Küppers Ralf
Publication year - 2011
Publication title -
international journal of cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.475
H-Index - 234
eISSN - 1097-0215
pISSN - 0020-7136
DOI - 10.1002/ijc.25497
Subject(s) - chronic lymphocytic leukemia , mutation , biology , point mutation , gene , pathogenesis , cancer research , genetics , leukemia , allele , suppressor , repressor , nfkb1 , tumor suppressor gene , gene expression , immunology , carcinogenesis , transcription factor
Chronic lymphocytic leukemia (CLL) cells show constitutive nuclear factor kappa B (NF‐κB) activation, which may have a pathogenetic role. The mechanisms causing this NF‐κB activity are poorly understood. A20, encoded by the TNFAIP3 gene, is a repressor of the NF‐κB pathway and was recently shown to be frequently inactivated by deletions and/or point mutations in several types of B‐cell lymphomas. Here, we studied 48 CLL, including at least 12 cases with a deletion of one allele of TNFAIP3 , for mutations. However, only one case harboured a silent mutation, all other cases were unmutated. Therefore, A20 inactivation plays no significant role in the pathogenesis of CLL, and the recurrent deletion in CLL on 6q21‐23, where TNFAIP3 is located, likely affects other gene(s).