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

Jennifer L. Hunt, Leon Barnes, James S. Lewis, Magdy E. Mahfouz, Pieter J. Slootweg, Lester D.R. Thompson, Antonio Cardesa, Kenneth O. Devaney, Douglas R. Gnepp, William H. Westra, Juan P. Rodrigo, Julia A. Woolgar, Alessandra Rinaldo, Asterios Triantafyllou, Robert P. Takes, Alfio Ferlito

Research output: Contribution to journalReview articlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)211-223
Number of pages13
JournalEuropean Archives of Oto-Rhino-Laryngology
Volume271
Issue number2
DOIs
StatePublished - Feb 2014

Keywords

  • Carcinogenesis
  • Diagnostic test
  • Gene expression
  • Head and neck squamous cell carcinoma
  • Molecular biology
  • Oncogenes
  • Targeted therapy
  • Tumor suppressor genes

ASJC Scopus subject areas

  • Otorhinolaryngology

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