Mutation frequency in 15 common cancer genes in high-risk head and neck squamous cell carcinoma

Head Neck. 2014 Aug;36(8):1181-8. doi: 10.1002/hed.23430. Epub 2014 Mar 10.


Background: With prior studies having looked at unselected cohorts, we sought to explore the mutational landscape in a high-risk group of head and neck squamous cell carcinoma (HNSCC) tumors.

Methods: A multiplexed polymerase chain reaction (PCR) assay evaluating 68 loci in 15 genes was performed on 64 patients with high-risk HNSCC. Because of the frequent PIK3CA and AKT1 mutations in patients with oropharyngeal carcinoma, we evaluated the relationship between mutation status and both clinical/pathologic variables and tumor control in this subgroup.

Results: Seventeen of 64 patients harbored mutations in the assayed loci: 16% in PIK3CA, 9% in TP53, 2% in AKT1, and 2% in epidermal growth factor receptor (EGFR). The frequency of PIK3CA/AKT1 mutations in oropharyngeal and sinonasal primaries was increased compared to other primary sites (35% vs 6%; p = .005). There was no relationship between mutation status and overall survival (OS), disease-specific death, or progression in the oropharyngeal cohort.

Conclusion: We identified frequent PIK3CA mutations in patients with high-risk HNSCC confined predominantly to the oropharyngeal and sinonasal subsites; for the first time, mutation in AKT1 has been identified in HNSCC.

Keywords: PIK3CA; high-risk; mutations; oropharyngeal; sinus; squamous cell carcinoma.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Aged
  • Carcinoma, Squamous Cell / genetics*
  • Class I Phosphatidylinositol 3-Kinases
  • Female
  • Genes, Neoplasm*
  • Genotype
  • Head and Neck Neoplasms / genetics*
  • Humans
  • Male
  • Massachusetts
  • Middle Aged
  • Multiplex Polymerase Chain Reaction
  • Mutation
  • Mutation Rate*
  • Neoplasm Proteins / genetics*
  • Phosphatidylinositol 3-Kinases / genetics
  • Proto-Oncogene Proteins c-akt / genetics
  • Retrospective Studies
  • Squamous Cell Carcinoma of Head and Neck
  • Survival Rate


  • Neoplasm Proteins
  • Phosphatidylinositol 3-Kinases
  • Class I Phosphatidylinositol 3-Kinases
  • PIK3CA protein, human
  • AKT1 protein, human
  • Proto-Oncogene Proteins c-akt