Genomic spectra of biliary tract cancer

Nat Genet. 2015 Sep;47(9):1003-10. doi: 10.1038/ng.3375. Epub 2015 Aug 10.

Abstract

The incidence of biliary tract cancer (BTC), including intrahepatic (ICC) and extrahepatic (ECC) cholangiocarcinoma and gallbladder cancer, has increased globally; however, no effective targeted molecular therapies have been approved at the present time. Here we molecularly characterized 260 BTCs and uncovered spectra of genomic alterations that included new potential therapeutic targets. Gradient spectra of mutational signatures with a higher burden of the APOBEC-associated mutation signature were observed in gallbladder cancer and ECC. Thirty-two significantly altered genes, including ELF3, were identified, and nearly 40% of cases harbored targetable genetic alterations. Gene fusions involving FGFR2 and PRKACA or PRKACB preferentially occurred in ICC and ECC, respectively, and the subtype-associated prevalence of actionable growth factor-mediated signals was noteworthy. The subgroup with the poorest prognosis had significant enrichment of hypermutated tumors and a characteristic elevation in the expression of immune checkpoint molecules. Accordingly, immune-modulating therapies might also be potentially promising options for these patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biliary Tract Neoplasms / genetics*
  • Cyclic AMP-Dependent Protein Kinase Catalytic Subunits / genetics
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genomics
  • Humans
  • Oncogene Proteins, Fusion / genetics
  • Point Mutation
  • Prognosis
  • Proto-Oncogene Proteins c-ets / genetics
  • Receptor, Fibroblast Growth Factor, Type 1 / genetics
  • Receptor, Fibroblast Growth Factor, Type 2 / genetics
  • Transcription Factors / genetics

Substances

  • DNA-Binding Proteins
  • ELF3 protein, human
  • Oncogene Proteins, Fusion
  • Proto-Oncogene Proteins c-ets
  • Transcription Factors
  • FGFR1 protein, human
  • FGFR2 protein, human
  • Receptor, Fibroblast Growth Factor, Type 1
  • Receptor, Fibroblast Growth Factor, Type 2
  • Cyclic AMP-Dependent Protein Kinase Catalytic Subunits
  • PRKACA protein, human