Somatic mutations in tumor and plasma of locoregional recurrent and/or metastatic head and neck cancer using a next‐generation sequencing panel: A preliminary study

• Published in: Cancer medicine (Malden, MA) MA), 2023-03, Vol.12 (6), p.6615-6622
• Main Authors: Rapado‐González, Óscar, Brea‐Iglesias, Jenifer, Rodríguez‐Casanova, Aitor, Bao‐Caamano, Aida, López‐Cedrún, José‐Luis, Triana‐Martínez, Gabriel, Díaz‐Peña, Roberto, Santos, María Arminda, López‐López, Rafael, Muinelo‐Romay, Laura, Martínez‐Fernández, Mónica, Díaz‐Lagares, Ángel, Suárez‐Cunqueiro, María Mercedes
• Format: Article
• Language: English
• Subjects: Biomarkers, Tumor - genetics; Biopsy; Cancer therapies; Cell-Free Nucleic Acids; cell‐free DNA; droplet digital PCR; Genes; Genomes; Head & neck cancer; Head and neck carcinoma; Head and Neck Neoplasms - genetics; head and neck squamous cell carcinoma; High-Throughput Nucleotide Sequencing; Human papillomavirus; Humans; Laboratories; liquid biopsy; Metastases; Metastasis; Mutation; Next-generation sequencing; Patients; Plasma; Precision medicine; Saliva; somatic mutations; Squamous cell carcinoma; Squamous Cell Carcinoma of Head and Neck - genetics; Tumors
• ISSN: 2045-7634; 2045-7634
• DOI: 10.1002/cam4.5436

Background We explore the utility of TruSight Tumor 170 panel (TST170) for detecting somatic mutations in tumor and cfDNA from locoregional recurrent and/or metastatic head and neck squamous cell carcinoma (HNSCC). Methods Targeted NGS of tumor DNA and plasma cfDNA was performed using TST170 panel. In addition, a set of somatic mutations previously described in HNSCC were selected for validating in tumor, plasma, and saliva by digital droplet PCR. Results The TST170 panel identified 13 non‐synonymous somatic mutations, of which five were detected in tumoral tissue, other five in plasma cfDNA, and three in both tissue and plasma cfDNA. Of the eight somatic mutations identified in tissue, three were also identified in plasma cfDNA, showing an overall concordance rate of 37.5%. Conclusions This preliminary study shows the possibility to detect somatic mutations in tumor and plasma of HNSCC patients using a single assay that would facilitate the clinical implementation of personalized medicine in the clinic. This study aims to explore whether a NGS panel (TST170) could be suitable for detecting somatic mutations in tumor and cfDNA from locoregional recurrent and/or metastatic HNSCC patients. Furthermore, we also carried out an orthogonal validation of somatic mutations in tumor, plasma cfDNA, and salivary DNA.