Recurrent hotspot mutations in HRAS Q61 and PI3K-AKT pathway genes as drivers of breast adenomyoepitheliomas

Nat Commun. 2018 May 8;9(1):1816. doi: 10.1038/s41467-018-04128-5.

Abstract

Adenomyoepithelioma of the breast is a rare tumor characterized by epithelial-myoepithelial differentiation, whose genetic underpinning is largely unknown. Here we show through whole-exome and targeted massively parallel sequencing analysis that whilst estrogen receptor (ER)-positive adenomyoepitheliomas display PIK3CA or AKT1 activating mutations, ER-negative adenomyoepitheliomas harbor highly recurrent codon Q61 HRAS hotspot mutations, which co-occur with PIK3CA or PIK3R1 mutations. In two- and three-dimensional cell culture models, forced expression of HRASQ61R in non-malignant ER-negative breast epithelial cells with or without a PIK3CAH1047R somatic knock-in results in transformation and the acquisition of the cardinal features of adenomyoepitheliomas, including the expression of myoepithelial markers, a reduction in E-cadherin expression, and an increase in AKT signaling. Our results demonstrate that adenomyoepitheliomas are genetically heterogeneous, and qualify mutations in HRAS, a gene whose mutations are vanishingly rare in common-type breast cancers, as likely drivers of ER-negative adenomyoepitheliomas.

Publication types

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

MeSH terms

  • Adenomyoepithelioma / enzymology
  • Adenomyoepithelioma / genetics*
  • Adenomyoepithelioma / pathology*
  • Biomarkers, Tumor / genetics
  • Breast / cytology
  • Breast / metabolism
  • Breast Neoplasms / enzymology
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / pathology*
  • Cadherins / metabolism
  • Cell Differentiation
  • Cell Line, Tumor
  • Class I Phosphatidylinositol 3-Kinases / metabolism*
  • Disease Progression
  • Enzyme Activation
  • Epithelial Cells / cytology
  • Epithelial Cells / metabolism
  • Exome Sequencing
  • Female
  • Genes, ras*
  • Humans
  • Mutation*
  • Proto-Oncogene Proteins c-akt / metabolism*
  • Receptors, Estrogen / metabolism
  • Reproducibility of Results
  • Signal Transduction

Substances

  • Biomarkers, Tumor
  • Cadherins
  • Receptors, Estrogen
  • Class I Phosphatidylinositol 3-Kinases
  • PIK3CA protein, human
  • Proto-Oncogene Proteins c-akt