Molecular characterization of oral squamous cell carcinoma using targeted next-generation sequencing

• Published in: Oral diseases 2015-10, Vol.21 (7), p.872-878
• Main Authors: Er, Tze-Kiong, Wang, Yen-Yun, Chen, Chih-Chieh, Herreros-Villanueva, Marta, Liu, Ta-Chih, Yuan, Shyng-Shiou F.
• Format: Article
• Language: English
• Subjects: Adenomatous Polyposis Coli Protein - genetics; Asian Continental Ancestry Group - genetics; Cadherins - genetics; Carcinoma, Squamous Cell - genetics; Cell Cycle Proteins - genetics; Class I Phosphatidylinositol 3-Kinases; Dentistry; DNA Mutational Analysis - methods; F-Box Proteins - genetics; F-Box-WD Repeat-Containing Protein 7; Humans; Mouth Neoplasms - genetics; next-generation sequencing; Oral cancer; Oral squamous cell carcinoma; Pathogenesis; Phosphatidylinositol 3-Kinases - genetics; PIK3CA mutation; Population genetics; Proto-Oncogene Proteins c-met - genetics; Taiwan; TP53 mutation; Tumor Suppressor Protein p53 - genetics; Tumors; Ubiquitin-Protein Ligases - genetics
• ISSN: 1354-523X; 1601-0825
• DOI: 10.1111/odi.12357

Objectives Many genetic factors play an important role in the development of oral squamous cell carcinoma. The aim of this study was to assess the mutational profile in oral squamous cell carcinoma using formalin‐fixed, paraffin‐embedded tumors from a Taiwanese population by performing targeted sequencing of 26 cancer‐associated genes that are frequently mutated in solid tumors. Methods Next‐generation sequencing was performed in 50 formalin‐fixed, paraffin‐embedded tumor specimens obtained from patients with oral squamous cell carcinoma. Genetic alterations in the 26 cancer‐associated genes were detected using a deep sequencing (>1000X) approach. Results TP53, PIK3CA, MET, APC, CDH1, and FBXW7 were most frequently mutated genes. Most remarkably, TP53 mutations and PIK3CA mutations, which accounted for 68% and 18% of tumors, respectively, were more prevalent in a Taiwanese population. Other genes including MET (4%), APC (4%), CDH1 (2%), and FBXW7 (2%) were identified in our population. Conclusions In summary, our study shows the feasibility of performing targeted sequencing using formalin‐fixed, paraffin‐embedded samples. Additionally, this study also reports the mutational landscape of oral squamous cell carcinoma in the Taiwanese population. We believe that this study will shed new light on fundamental aspects in understanding the molecular pathogenesis of oral squamous cell carcinoma and may aid in the development of new targeted therapies.