MYB-QKI rearrangements in angiocentric glioma drive tumorigenicity through a tripartite mechanism

Nat Genet. 2016 Mar;48(3):273-82. doi: 10.1038/ng.3500. Epub 2016 Feb 1.

Abstract

Angiocentric gliomas are pediatric low-grade gliomas (PLGGs) without known recurrent genetic drivers. We performed genomic analysis of new and published data from 249 PLGGs, including 19 angiocentric gliomas. We identified MYB-QKI fusions as a specific and single candidate driver event in angiocentric gliomas. In vitro and in vivo functional studies show that MYB-QKI rearrangements promote tumorigenesis through three mechanisms: MYB activation by truncation, enhancer translocation driving aberrant MYB-QKI expression and hemizygous loss of the tumor suppressor QKI. To our knowledge, this represents the first example of a single driver rearrangement simultaneously transforming cells via three genetic and epigenetic mechanisms in a tumor.

Publication types

  • Meta-Analysis
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Carcinogenesis / genetics
  • Cell Line, Tumor
  • Child
  • Comparative Genomic Hybridization
  • Exome / genetics
  • Gene Expression Regulation, Neoplastic
  • Gene Rearrangement
  • Glioma / genetics*
  • Glioma / pathology
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Mutation
  • Oncogene Proteins v-myb / biosynthesis
  • Oncogene Proteins v-myb / genetics*
  • Oncogene Proteins, Fusion / biosynthesis
  • Oncogene Proteins, Fusion / genetics*
  • RNA-Binding Proteins / biosynthesis
  • RNA-Binding Proteins / genetics*

Substances

  • Oncogene Proteins v-myb
  • Oncogene Proteins, Fusion
  • QKI protein, human
  • RNA-Binding Proteins