| Affiliation: | 1. Department of Haematology, University Hospital Essen, University of Duisburg‐Essen, Essen, Germany;2. Institute of Cell Biology (Cancer Research), Medical Faculty, University of Duisburg‐Essen, Essen, Germany;3. Institute of Human Genetics, Christian‐Albrechts‐University Kiel and University Hospital Schleswig‐Holstein, Kiel, Germany;4. Genome Informatics, Institute of Human Genetics, University Hospital Essen, University of Duisburg‐Essen, Essen, Germany;5. Laboratory for Molecular Biology and Tumor Cytogenetics, Department of Haematology and Oncology, Linz, Austria;6. Division of Haematology and Haemostaseology, Department of Medicine I, Medical University of Vienna, Vienna, Austria |
| Abstract: | 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. |
