Recurrent alterations of TNFAIP3 (A20) in T-cell large granular lymphocytic leukemia

Patricia Johansson, Anke Bergmann, Sven Rahmann, Inken Wohlers, René Scholtysik, Martina Przekopowitz, Marc Seifert, Gertraud Tschurtschenthaler, Gerald Webersinke, Ulrich Jäger, Reiner Siebert, Ludger Klein-Hitpass, Ulrich Dührsen, Jan Dürig, Ralf Küppers*

*Corresponding author for this work
22 Citations (Scopus)


The pathogenesis of T-cell large granular lymphocytic leukemia (T-LGL) is poorly understood, as STAT3 mutations are the only known frequent genetic lesions. Here, we identified non-synonymous alterations in the TNFAIP3 tumor suppressor gene in 3 of 39 T-LGL. In two cases these were somatic mutations, in one case the somatic origin was likely. A further case harbored a SNP that is a known risk allele for autoimmune diseases and B cell lymphomas. Thus, TNFAIP3 mutations represent recurrent genetic lesions in T-LGL that affect about 8% of cases, likely contributing to deregulated NF-κB activity in this leukemia. What's New? T-cell large granular lymphocytic leukemia (T-LGL) is often associated with mutations in the STAT3 gene, but associations with other genetic mutations remain unknown. Here the authors identified non-synonymous mutations in the gene encoding TNF-alpha-induced protein 3 (TNFAIP3), a negative regulator of NF-kappa B signaling, in three patients with T-LGL. The study underscores the important role of NF-kappa B activity in this otherwise poorly understood lymphoid malignancy.

Original languageEnglish
JournalInternational Journal of Cancer
Issue number1
Pages (from-to)121-124
Number of pages4
Publication statusPublished - 01.01.2016


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