Epstein-Barr virus infection shapes the genetic, transcriptomic, and immune microenvironment landscape of Burkitt lymphoma.

ABSTRACT: Burkitt lymphoma (BL) is a highly aggressive B-cell lymphoma with its occurrence and progression closely associated with Epstein-Barr virus (EBV) status. However, the molecular differences between EBV-positive and EBV-negative BL have not been comprehensively evaluated. Through targeted sequencing of a 475-gene panel in 27 BL cases, and RNA-seq and LncRNA-seq analyses of 25 cases, we found that EBV-negative tumors displayed a higher frequency of chromosomal amplifications, particularly at 7p12.2, 6q25.3 and 7q22.1. Two novel variants of KMT2D were identified in adult patients in the EBV-negative group. Furthermore, EBV-positive BL exhibited enriched FOXO1 mutations, in contrast to CCND3 hotspot variants in EBV-negative cases. Transcriptome profiling revealed 1,612 differentially expressed

SUBMITTER: Xiao Q 

PROVIDER: S-EPMC12784524 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature