Molecular profiling of head and neck squamous cell carcinoma


Rebecca Feldman, Zoran Gatalica, Joseph Knezetic, Sandeep Reddy, Cherie-Ann Nathan, Nader Javadi, Theodoros Teknos

Background: Head and neck squamous cell carcinoma (HNSCC) exhibits high rates of recurrence, and with few approved targeted agents, novel treatments are needed. We analyzed a molecular profiling database for the distribution of biomarkers predictive of chemotherapies and targeted agents.

Methods: Seven hundred thirty-five patients with advanced HNSCC (88 with known human papillomavirus [HPV] status), were profiled using multiple platforms (gene sequencing, gene copy number, and protein expression).

Results: Among the entire patient population studied, epidermal growth factor receptor (EGFR) was the protein most often overexpressed (90%), TP53 gene most often mutated (41%), and phosphatidylinositol 3-kinase (PIK3CA) most often amplified (40%; n = 5). With the exception of TP53 mutation, other biomarker frequencies were not significantly different among HPV-positive or HPV-negative patients. PIK3CA mutations and phosphatase and tensin homolog (PTEN) loss are frequent events, independent of HPV status. The immune response-modulating programmed cell death 1 (PD1) and programmed cell death ligand 1 (PDL1) axis was active across sites, stages, and HPV status.

Conclusion: Molecular profiling utilizing multiple platforms provides a range of therapy options beyond standard of care.

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