DNA methylation profiles of SMARCB1-deficient T cell lymphomas

Peripheral T-cell lymphoma, not otherwise specified (PTCL-NOS) is a heterogeneous group of malignancies with poor outcome. Here we have identified a subgroup of SMARCB1 deficient PTCL-NOS, which is characterized by the lack of the SMARCB1 protein and is more common in young patients. Human and murine Smarcb1-negative PTCL-NOS from a corresponding mouse model show similar DNA methylation profiles, with hypermethylation of T-cell-related genes and hypomethylation of genes involved in myeloid development. DNA methylation profiles of PTCL-NOS patients (n = 5) showing SMARCB1/INI1 protein loss in immunohistochemnistry (IHC), Cd4-cre::Smarcb1fl/fl mice (n = 5) and corresponding control groups including non-neoplastic samples isolated from the spleen (n = 5) and splenic Cd3+ sorted cells (n = 5) were generated using Illumina Infinium MethylationEPIC and Mouse Methylation BeadChips, respectively.