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Recurrent alterations of TNFAIP 3 ( A 20) in T ‐cell large granular lymphocytic leukemia
Author(s) -
Johansson Patricia,
Bergmann Anke,
Rahmann Sven,
Wohlers Inken,
Scholtysik René,
Przekopowitz Martina,
Seifert Marc,
Tschurtschenthaler Gertraud,
Webersinke Gerald,
Jäger Ulrich,
Siebert Reiner,
KleinHitpass Ludger,
Dührsen Ulrich,
Dürig Jan,
Küppers Ralf
Publication year - 2015
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.29697
Subject(s) - leukemia , pathogenesis , chronic lymphocytic leukemia , biology , somatic cell , allele , mutation , immunology , cancer research , genetics , gene
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.