Figure 1

Recurrent mutated genes and pathways in 150 DLBCLs patients. (a) Bar-graphs show mutated genes in more than 5% of DLBCL patients and frequently mutated pathways. Each color bar indicates biological subtypes; GCB: germinal center B-cell type, ABC: activated B-cell type, UC: unclassified, ND/NE: not done or not evaluable. An asterisk represents mutated genes/pathways significantly enriched in one of the subtypes of COO and asterisk color denotes the enriched group. Tumor suppressor genes include mutations and deletions in TP53 and CDKN2A, respectively. (#) (b) Heat maps show the distribution of MYD88 and TP53 mutated patients in both DLBCL subtypes. TP53 mutations are divided into truncating and missense mutations located on the DNA binding domains (DBD) and ‘others’. Columns depict individual cases and rows mutated genes/mutation type. (c, d) Heat maps representing relationships among mutated genes in B-cell receptor (BCR)/Toll-like receptor signaling, Epigenome/Chromatin Modifier and NOTCH pathways. Graph-bars above show the total number of mutated cases for each gene. One black asterisk represents significant mutated gene concurrence and two asterisks significant exclusion. Significant P-values corrected by false discovery rate (FDR) are showed. (e) Gene-set enrichment analysis (GSEA) of NOTCH pathway mutated cases vs cases with no mutations in genes of this pathway. (f) Box plots show HES1 mRNA expression levels in NOTCH pathway mutated cases and cases with no mutations in this pathway.