Molecular diagnostic alterations in squamous cell carcinoma of the head and neck and potential diagnostic applications

Eur Arch Otorhinolaryngol. 2014 Feb;271(2):211-23. doi: 10.1007/s00405-013-2400-9. Epub 2013 Mar 7.

Abstract

Head and neck squamous cell carcinoma (HNSCC) is a common malignancy that continues to be difficult to treat and cure. In many organ systems and tumor types, there have been significant advances in the understanding of the molecular basis for tumorigenesis, disease progression and genetic implications for therapeutics. Although tumorigenesis pathways and the molecular etiologies of HNSCC have been extensively studied, there are still very few diagnostic clinical applications used in practice today. This review discusses current clinically applicable molecular markers, including viral detection of Epstein-Barr virus and human papillomavirus, and molecular targets that are used in diagnosis and management of HNSCC. The common oncogenes EGFR, RAS, CCND1, BRAF, and PIK3CA and tumor suppressor genes p53, CDKN2A and NOTCH are discussed for their associations with HNSCC. Discussion of markers with potential future applications is also included, with a focus on molecular alterations associated with targeted therapy resistance.

Publication types

  • Review

MeSH terms

  • Biomarkers, Tumor / genetics*
  • Carcinoma, Squamous Cell / diagnosis
  • Carcinoma, Squamous Cell / genetics*
  • Carcinoma, Squamous Cell / virology
  • Class I Phosphatidylinositol 3-Kinases
  • Cyclin D1 / genetics
  • Epstein-Barr Virus Infections / diagnosis
  • Gene Expression Regulation, Neoplastic*
  • Genes, erbB-1
  • Genes, p16
  • Genes, p53
  • Genes, ras
  • Head and Neck Neoplasms / diagnosis
  • Head and Neck Neoplasms / genetics*
  • Head and Neck Neoplasms / virology
  • Humans
  • Papillomavirus Infections / diagnosis
  • Phosphatidylinositol 3-Kinases / genetics
  • Proto-Oncogene Proteins B-raf / genetics
  • Receptors, Notch / genetics
  • Squamous Cell Carcinoma of Head and Neck

Substances

  • Biomarkers, Tumor
  • CCND1 protein, human
  • Receptors, Notch
  • Cyclin D1
  • Phosphatidylinositol 3-Kinases
  • Class I Phosphatidylinositol 3-Kinases
  • PIK3CA protein, human
  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf