title: Mutation frequency in 15 common cancer genes in high-risk head and neck squamous cell carcinoma.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Harvard Radiation Oncology Program, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.
authors.forename: Sean M
authors.initials: SM
authors.lastname: McBride
authors.forename: S Michael
authors.initials: SM
authors.lastname: Rothenberg
authors.forename: William C
authors.initials: WC
authors.lastname: Faquin
authors.forename: Annie W
authors.initials: AW
authors.lastname: Chan
authors.forename: John R
authors.initials: JR
authors.lastname: Clark
authors.forename: Leif W
authors.initials: LW
authors.lastname: Ellisen
authors.forename: Lori J
authors.initials: LJ
authors.lastname: Wirth
mesh_terms: D000328:Adult; D000368:Aged; D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D058534:Class I Phosphatidylinositol 3-Kinases; D005260:Female; D052138:Genes, Neoplasm; D005838:Genotype; D006258:Head and Neck Neoplasms / Q000235:genetics*; D006801:Humans; D008297:Male; D008404:Massachusetts; D008875:Middle Aged; D060885:Multiplex Polymerase Chain Reaction; D009154:Mutation; D059645:Mutation Rate; D009363:Neoplasm Proteins / Q000235:genetics*; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics; D051057:Proto-Oncogene Proteins c-akt / Q000235:genetics; D012189:Retrospective Studies; D000077195:Squamous Cell Carcinoma of Head and Neck; D015996:Survival Rate
chemical_list: D009363:Neoplasm Proteins; D019869:Phosphatidylinositol 3-Kinases; D058534:Class I Phosphatidylinositol 3-Kinases; C484760:PIK3CA protein, human; C494918:AKT1 protein, human; D051057:Proto-Oncogene Proteins c-akt
keywords: PIK3CA; high-risk; mutations; oropharyngeal; sinus; squamous cell carcinoma