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KLF2 mutation is the most frequent somatic change in splenic marginal zone lymphoma and identifies a subset with distinct genotype.


Type

Article

Change log

Authors

Clipson, A 
Wang, M 
de Leval, L 
Ashton-Key, M 
Wotherspoon, A 

Abstract

To characterise the genetics of splenic marginal zone lymphoma (SMZL), we performed whole exome sequencing of 16 cases and identified novel recurrent inactivating mutations in Kruppel-like factor 2 (KLF2), a gene whose deficiency was previously shown to cause splenic marginal zone hyperplasia in mice. KLF2 mutation was found in 40 (42%) of 96 SMZLs, but rarely in other B-cell lymphomas. The majority of KLF2 mutations were frameshift indels or nonsense changes, with missense mutations clustered in the C-terminal zinc finger domains. Functional assays showed that these mutations inactivated the ability of KLF2 to suppress NF-κB activation by TLR, BCR, BAFFR and TNFR signalling. Further extensive investigations revealed common and distinct genetic changes between SMZL with and without KLF2 mutation. IGHV1-2 rearrangement and 7q deletion were primarily seen in SMZL with KLF2 mutation, while MYD88 and TP53 mutations were nearly exclusively found in those without KLF2 mutation. NOTCH2, TRAF3, TNFAIP3 and CARD11 mutations were observed in SMZL both with and without KLF2 mutation. Taken together, KLF2 mutation is the most common genetic change in SMZL and identifies a subset with a distinct genotype characterised by multi-genetic changes. These different genetic changes may deregulate various signalling pathways and generate cooperative oncogenic properties, thereby contributing to lymphomagenesis.

Description

Keywords

Biopsy, CARD Signaling Adaptor Proteins, DNA-Binding Proteins, Exome, Frameshift Mutation, Gene Rearrangement, B-Lymphocyte, Heavy Chain, Genetic Variation, Genotype, Guanylate Cyclase, Humans, Intracellular Signaling Peptides and Proteins, Kruppel-Like Transcription Factors, Lymphoma, Lymphoma, B-Cell, Marginal Zone, Mutation, Mutation, Missense, Nuclear Proteins, Polymerase Chain Reaction, Receptor, Notch2, Recurrence, Sequence Analysis, DNA, Signal Transduction, Splenic Neoplasms, Tumor Necrosis Factor alpha-Induced Protein 3

Journal Title

Leukemia

Conference Name

Journal ISSN

0887-6924
1476-5551

Volume Title

29

Publisher

Nature Publishing Group
Sponsorship
Wellcome Trust (095663/Z/11/A)
The research was supported by grants from Leukaemia & Lymphoma Research, U.K., Addenbrooke’s Charitable Trust. SM is a PhD student supported by MRC and Department of Pathology, University of Cambridge. LEI is a PhD student supported by the Pathological Society of UK & Ireland. NB is a fellow of the European Hematology Association and was supported by a starter grant from the Academy of Medical Sciences.