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PIK3CA mutations in head and neck squamous cell carcinoma
Wanglong Qiu1, Frank Schönleben, Xiaojun Li
1Department of Otolaryngology/Head and Neck Surgery, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA.
Summary
Mutations in the PIK3CA gene were found in 11% of head and neck squamous cell carcinoma (HNSCC) cases, particularly in pharyngeal cancer. These PIK3CA mutations may drive cancer development, suggesting PIK3CA inhibitors as potential therapies.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Somatic mutations in the phosphoinositide-3-kinase catalytic alpha (PIK3CA) gene are frequent in human solid tumors.
- While PIK3CA gene amplifications are known in head and neck squamous cell carcinoma (HNSCC), its small mutations have not been previously assessed.
Purpose of the Study:
- To determine the frequency of PIK3CA gene mutations in HNSCC.
- To investigate the role of PIK3CA in HNSCC tumorigenesis.
Main Methods:
- Direct genomic DNA sequencing was used to analyze key exons (1, 4, 5, 6, 7, 9, and 20) of the PIK3CA gene.
- The study included 38 HNSCC specimens, focusing on regions known to harbor somatic mutations (exons 9 and 20).
Main Results:
- Four missense mutations in PIK3CA were identified in 11% (4 out of 38) of HNSCC specimens.
- Three known hotspot mutations (H1047R, E542K, E545K) and one novel mutation (Y343C) were detected.
- Three mutations were somatic, and three of the four identified mutations were found in pharyngeal cancer samples.
Conclusions:
- The findings suggest that oncogenic PIK3CA mutations contribute to the development of human head and neck cancers, with a notable prevalence in pharyngeal cancer.
- Targeting PIK3CA with specific kinase inhibitors could offer a potential therapeutic strategy for HNSCC, particularly for pharyngeal cancer.
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