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

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

Author information

1
Harvard Radiation Oncology Program, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.

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.

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

PMID:
23852799
PMCID:
PMC4096067
DOI:
10.1002/hed.23430
[Indexed for MEDLINE]
Free PMC Article

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