Phosphatidylinositol-3-kinase pathway mutations are common in breast columnar cell lesions

Mod Pathol. 2012 Jul;25(7):930-7. doi: 10.1038/modpathol.2012.55. Epub 2012 Mar 30.

Abstract

The phosphatidylinositol-3-kinase pathway is one of the most commonly mutated pathways in invasive breast carcinoma, with PIK3CA mutations in ∼25% of invasive carcinomas, and AKT1 mutations in up to 5%. Ductal carcinoma in situ, and benign papillomas harbor similar mutations. However, activating point mutations in breast columnar cell lesions have been infrequently studied. Twenty-three breast resection specimens containing columnar cell lesions were identified; 14 with associated invasive carcinoma or carcinoma in situ. DNA extracts were prepared from formalin-fixed paraffin-embedded tissue and screened for a panel of point mutations (321 mutations in 30 genes) using a multiplex PCR panel with mass-spectroscopy readout. PIK3CA mutations were identified in 13/24 columnar cell lesions (54%) and 3/8 invasive carcinomas (37%). The mutation status of columnar cell lesions and associated carcinoma was frequently discordant. Of the 14 cases, only 5 demonstrated the same genotype in matched samples of columnar cell lesions and carcinoma (4 wild type, 1 PIK3CA H1047R). Interestingly, five patients had mutations in columnar cell lesions with wild-type carcinoma; two patients had different point mutations in columnar cell lesions and carcinoma. Only three cases had wild-type columnar cell lesion and mutated carcinoma. The 50% PIK3CA mutation prevalence in columnar cell lesions is greater than reported in most studies of invasive breast cancer. Further, columnar cell lesions and carcinoma were frequently discordant for PIK3CA/AKT1 mutation status. These findings raise interesting questions about the role of PIK3CA/AKT pathway in breast carcinogenesis, and the biologic/precursor potential of columnar cell lesions.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Breast Diseases / complications*
  • Breast Diseases / enzymology
  • Breast Diseases / genetics*
  • Breast Neoplasms / complications*
  • Breast Neoplasms / enzymology
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / pathology
  • Carcinoma, Intraductal, Noninfiltrating / complications
  • Carcinoma, Intraductal, Noninfiltrating / enzymology
  • Carcinoma, Intraductal, Noninfiltrating / genetics
  • Female
  • Humans
  • Multiplex Polymerase Chain Reaction
  • Mutation*
  • Neoplasm Invasiveness
  • Phosphatidylinositol 3-Kinases / genetics*
  • Signal Transduction / physiology

Substances

  • Phosphatidylinositol 3-Kinases