Mutation frequency in 15 common cancer genes in high-risk head and neck squamous cell carcinoma.
McBride, Sean M. MD 1; Rothenberg, Michael S. MD 2; Faquin, William C. MD, PhD 3; Chan, Annie W. MD 4; Clark, John R. MD 2; Ellisen, Leif W. MD, PhD 2; Wirth, Lori J. MD 2
[Article]
Head & Neck.
36(8):1181-1188, August 2014.
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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. (C) 2014 Wiley Periodicals, Inc. Head Neck 36: 1181-1188, 2014
(C) 2014 John Wiley & Sons, Ltd