Figure 2.
Translocations of MYC recognize a phenotype with distinctive mutational landscape and gene expression profile and structural variations of BCL6 are not associated with gene or protein expression. (A) Box plot of the impact of MYC structural variations with MYC gene and protein expression. Representative cases of the alterations (FISH) shown below the box plot. Concurrent MYCTL and MYCGA regarded as MYCTL in analyzes. (B) Bar plot representing the frequencies of MYC structural variations with MYC immunoreactivity. (C) Oncoprint of concurrent genomic alterations with MYCTL. Fisher’s exact, P < .05. Multiple testing corrected for genes mutated in >5 patients of the study cohort with complete cytogenetic data. MYC SNVs were only detected in MYCTL DLBCLs. (D-E) Violin plots demonstrating different MYC gene expression levels between TP53 wild-type and TP53-altered DLBCLs in independent datasets. (D) Reddy et al cohort excluding discovery cohort. (E) Schmitz et al cohort. (F-G) Heatmaps of the differentially expressed genes according to MYCTL within the whole cohort (F) and within the GCB DLBCLs (G). Red asterisk and bold denotes genes reported important for the DHIT signature by Ennishi et al. Genes with FDR <10% and fold-change (log2 transformed) >0.25 included in the heatmaps. (H) Box plot demonstrating the similar levels of gene expression between different structural alterations of BCL6. Representative cases of BCL6 SVs detected with FISH below the plot. Dot colors indicate IHC staining positivity. Concurrent BCL6TL and BCL6GA regarded as BCL6TL. **P < .01; ****P < .0001.