Fusion of TTYH1 with the C19MC microRNA cluster drives expression of a brain-specific DNMT3B isoform in the embryonal brain tumor ETMR

Nat Genet. 2014 Jan;46(1):39-44. doi: 10.1038/ng.2849. Epub 2013 Dec 8.

Abstract

Embryonal tumors with multilayered rosettes (ETMRs) are rare, deadly pediatric brain tumors characterized by high-level amplification of the microRNA cluster C19MC. We performed integrated genetic and epigenetic analyses of 12 ETMR samples and identified, in all cases, C19MC fusions to TTYH1 driving expression of the microRNAs. ETMR tumors, cell lines and xenografts showed a specific DNA methylation pattern distinct from those of other tumors and normal tissues. We detected extreme overexpression of a previously uncharacterized isoform of DNMT3B originating at an alternative promoter that is active only in the first weeks of neural tube development. Transcriptional and immunohistochemical analyses suggest that C19MC-dependent DNMT3B deregulation is mediated by RBL2, a known repressor of DNMT3B. Transfection with individual C19MC microRNAs resulted in DNMT3B upregulation and RBL2 downregulation in cultured cells. Our data suggest a potential oncogenic re-engagement of an early developmental program in ETMR via epigenetic alteration mediated by an embryonic, brain-specific DNMT3B isoform.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain Neoplasms / genetics*
  • Child, Preschool
  • Chromosomes, Human, Pair 19*
  • DNA (Cytosine-5-)-Methyltransferases / genetics*
  • DNA (Cytosine-5-)-Methyltransferases / metabolism
  • DNA Methylation
  • DNA Methyltransferase 3B
  • Gene Expression Regulation, Neoplastic
  • Gene Fusion
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • MicroRNAs / genetics*
  • Neoplasms, Germ Cell and Embryonal / genetics*
  • Protein Isoforms
  • Retinoblastoma-Like Protein p130 / genetics
  • Xenograft Model Antitumor Assays

Substances

  • Membrane Proteins
  • MicroRNAs
  • Protein Isoforms
  • RBL2 protein, human
  • Retinoblastoma-Like Protein p130
  • TTYH1 protein, human
  • DNA (Cytosine-5-)-Methyltransferases

Associated data

  • GEO/GSE52556
  • SRA/SRP032476
  • SRA/SRP032767