Molecular profiling of head and neck squamous cell carcinoma

Head Neck. 2016 Apr;38 Suppl 1(Suppl 1):E1625-38. doi: 10.1002/hed.24290. Epub 2015 Nov 28.

Abstract

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. © 2015 Wiley Periodicals, Inc. Head Neck 38: E1625-E1638, 2016.

Keywords: DNA sequencing; biomarkers; head and neck squamous cell carcinoma; molecular profiling; protein expression.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • B7-H1 Antigen / genetics
  • Biomarkers, Tumor / genetics
  • Carcinoma, Squamous Cell / diagnosis*
  • Carcinoma, Squamous Cell / genetics*
  • Class I Phosphatidylinositol 3-Kinases / genetics
  • ErbB Receptors / genetics
  • Female
  • Head and Neck Neoplasms / diagnosis*
  • Head and Neck Neoplasms / genetics*
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Neoplasm Recurrence, Local
  • PTEN Phosphohydrolase / genetics
  • Papillomaviridae
  • Papillomavirus Infections
  • Programmed Cell Death 1 Receptor / genetics
  • Tumor Suppressor Protein p53 / genetics
  • Young Adult

Substances

  • B7-H1 Antigen
  • Biomarkers, Tumor
  • CD274 protein, human
  • PDCD1 protein, human
  • Programmed Cell Death 1 Receptor
  • TP53 protein, human
  • Tumor Suppressor Protein p53
  • Class I Phosphatidylinositol 3-Kinases
  • PIK3CA protein, human
  • EGFR protein, human
  • ErbB Receptors
  • PTEN Phosphohydrolase
  • PTEN protein, human