Identification of key mutations in central nervous diffuse large B-cell lymphoma (DLBCL) by comprehensive analysis between sequencing and TCGA database

Diffuse large B-cell lymphoma (DLBCL) is the most common type of non-Hodgkin's lymphoma, and hence, a comprehensive understanding based on the gene expression profile is imperative. Although several studies have identified some critical mutant genes of DLBCL, the disease in the central nervous system has not been investigated clearly. This study is aimed to identify some novel and important mutant genes of DLBCL in central nervous system.

Taken together, the analysis of the TCGA database and the results of the sequencing experiment displayed four mutations that might provide novel targets for the treatment of DLBCL.

A total of 156 cases of central nervous tumors were collected from 2016 to 2018, in which the DLBCL cases were confirmed by H&E staining and immunohistochemistry. With the whole-genome high-throughput sequencing, the mutations of samples were identified. By matching with TCGA database, the common mutations of DLBCL were further confirmed.

Twelve cases were designated as DLBCL, of which 1 case was classified into germinal center B cell (GCB) subtype, and 11 cases were non-GCB subtypes. The gene mutation spectrum demonstrated that the most common substitutions of six single bases were C>T/G>A, wherein the mutation frequency of C(C>T) G was the highest. The most common type of mutation is missense, and the most frequently mutated genes included MYD88, LRP1B, CD79B, GNA13 and PIM1. Based on the TCGA database, finally, the 4 significantly mutated genes (SMG), including MYD88, PIM1, CD79B, and BTG1 common in the above groups, were identified. Conclusions: Taken together, the analysis of the TCGA database and the results of the sequencing experiment displayed four mutations that might provide novel targets for the treatment of DLBCL.