Multi-dimensional genomic analysis of myoepithelial carcinoma identifies prevalent oncogenic gene fusions

Nat Commun. 2017 Oct 30;8(1):1197. doi: 10.1038/s41467-017-01178-z.

Abstract

Myoepithelial carcinoma (MECA) is an aggressive salivary gland cancer with largely unknown genetic features. Here we comprehensively analyze molecular alterations in 40 MECAs using integrated genomic analyses. We identify a low mutational load, and high prevalence (70%) of oncogenic gene fusions. Most fusions involve the PLAG1 oncogene, which is associated with PLAG1 overexpression. We find FGFR1-PLAG1 in seven (18%) cases, and the novel TGFBR3-PLAG1 fusion in six (15%) cases. TGFBR3-PLAG1 promotes a tumorigenic phenotype in vitro, and is absent in 723 other salivary gland tumors. Other novel PLAG1 fusions include ND4-PLAG1; a fusion between mitochondrial and nuclear DNA. We also identify higher number of copy number alterations as a risk factor for recurrence, independent of tumor stage at diagnosis. Our findings indicate that MECA is a fusion-driven disease, nominate TGFBR3-PLAG1 as a hallmark of MECA, and provide a framework for future diagnostic and therapeutic research in this lethal cancer.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Cell Line, Tumor
  • DNA-Binding Proteins / genetics
  • Female
  • Genomics / methods*
  • HEK293 Cells
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Middle Aged
  • Mutation
  • Myoepithelioma / genetics*
  • Oncogene Fusion / genetics*
  • Oncogene Proteins, Fusion / genetics*
  • Receptor, Fibroblast Growth Factor, Type 1 / genetics
  • Salivary Gland Neoplasms / genetics*
  • Sequence Analysis, DNA / methods
  • Young Adult

Substances

  • DNA-Binding Proteins
  • Oncogene Proteins, Fusion
  • PLAG1 protein, human
  • FGFR1 protein, human
  • Receptor, Fibroblast Growth Factor, Type 1