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- Title
Mutation frequency in 15 common cancer genes in high-risk head and neck squamous cell carcinoma.
- Authors
McBride, Sean M.; Rothenberg, S. Michael; Faquin, William C.; Chan, Annie W.; Clark, John R.; Ellisen, Leif W.; Wirth, Lori J.
- 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. © 2014 Wiley Periodicals, Inc. Head Neck 36: 1181-1188, 2014
- Subjects
SQUAMOUS cell carcinoma; NECK injury complications; CANCER education; INCURABLE diseases; CANCER genetics; MOLECULAR genetics; ETIOLOGY of diseases; CANCER risk factors
- Publication
Head & Neck, 2014, Vol 36, Issue 8, p1181
- ISSN
1043-3074
- Publication type
Article
- DOI
10.1002/hed.23430