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Mutation frequency in 15 common cancer genes in high‐risk head and neck squamous cell carcinoma
Author(s) -
McBride Sean M.,
Rothenberg S. Michael,
Faquin William C.,
Chan Annie W.,
Clark John R.,
Ellisen Leif W.,
Wirth Lori J.
Publication year - 2014
Publication title -
head and neck
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.012
H-Index - 127
eISSN - 1097-0347
pISSN - 1043-3074
DOI - 10.1002/hed.23430
Subject(s) - head and neck squamous cell carcinoma , mutation , oncology , epidermal growth factor receptor , head and neck cancer , medicine , cancer research , cancer , gene , biology , genetics
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. © 2014 Wiley Periodicals, Inc. Head Neck 36: 1181–1188, 2014