Genomic and transcriptomic changes complement each other in the pathogenesis of sporadic Burkitt lymphoma

Nat Commun. 2019 Mar 29;10(1):1459. doi: 10.1038/s41467-019-08578-3.

Abstract

Burkitt lymphoma (BL) is the most common B-cell lymphoma in children. Within the International Cancer Genome Consortium (ICGC), we performed whole genome and transcriptome sequencing of 39 sporadic BL. Here, we unravel interaction of structural, mutational, and transcriptional changes, which contribute to MYC oncogene dysregulation together with the pathognomonic IG-MYC translocation. Moreover, by mapping IGH translocation breakpoints, we provide evidence that the precursor of at least a subset of BL is a B-cell poised to express IGHA. We describe the landscape of mutations, structural variants, and mutational processes, and identified a series of driver genes in the pathogenesis of BL, which can be targeted by various mechanisms, including IG-non MYC translocations, germline and somatic mutations, fusion transcripts, and alternative splicing.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Alternative Splicing / genetics
  • Amino Acid Sequence
  • Basic Helix-Loop-Helix Transcription Factors / chemistry
  • Basic Helix-Loop-Helix Transcription Factors / metabolism
  • Burkitt Lymphoma / genetics*
  • Child
  • Child, Preschool
  • Chromosome Breakpoints
  • Cohort Studies
  • DNA Methylation / genetics
  • DNA Mutational Analysis
  • Female
  • Gene Expression Profiling
  • Gene Expression Regulation, Neoplastic
  • Genome, Human*
  • Humans
  • INDEL Mutation / genetics
  • Male
  • Oncogene Proteins, Fusion / genetics
  • Oncogene Proteins, Fusion / metabolism
  • Open Reading Frames / genetics
  • Polymorphism, Single Nucleotide / genetics
  • Proto-Oncogene Proteins c-myc / genetics
  • Transcriptome / genetics*
  • Translocation, Genetic
  • Whole Genome Sequencing

Substances

  • Basic Helix-Loop-Helix Transcription Factors
  • Oncogene Proteins, Fusion
  • Proto-Oncogene Proteins c-myc
  • TCF3 protein, human