Molecular and cytogenetic subgroups of oropharyngeal squamous cell carcinoma

Clin Cancer Res. 2006 Nov 15;12(22):6643-51. doi: 10.1158/1078-0432.CCR-06-1759.

Abstract

Purpose: The aim of this study was to acquire further insights into the pathogenetic pathways of head and neck squamous cell carcinomas (HNSCC) that may be useful for identifying new biomarkers instrumental in developing more specific treatment approaches.

Experimental design: Cell cycle regulators and epidermal growth factor receptor (EGFR) and BRAF genes were analyzed in a series of 90 oropharyngeal SCCs of a cohort of surgically treated patients from a single institution, and the results were matched with the presence of high-risk human papillomavirus (HR-HPV) DNA and the TP53 status.

Results: At least four distinct groups of tumors were identified sharing a common histology but displaying different molecular/cytogenetic patterns: (a) 19% were HPV-positive SCCs whose lack of alterations of the investigated genes could explain their particular natural history, which requires less aggressive treatment; (b) 37% were HPV-negative SCCs carrying TP53 mutations, which may be more effectively treated by drugs acting through p53-independent apoptosis; (c) 34% were HPV-negative SCCs carrying wild-type TP53 and loss of 9p21 (p16INK4a and p15INK4b) and/or cyclin D1 overexpression that justify treatment with DNA-damaging drugs followed by cell cycle inhibitors; and (d) 10% were HPV-negative lacking tumor suppressor genes and cell cycle alterations. The second, third, and fourth groups also showed an increased copy number of EGFR and chromosome 7 (43%) that might justify the additional or alternative use of EGFR inhibitors.

Conclusions: Our findings suggest that assessing HPV, TP53, 9p21, and EGFR status may be crucial to finding more tailored and beneficial treatments for oropharyngeal SCCs.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biomarkers, Tumor / analysis
  • Carcinoma, Squamous Cell / classification*
  • Carcinoma, Squamous Cell / genetics*
  • Carcinoma, Squamous Cell / virology
  • Cell Cycle Proteins / physiology
  • Chromosome Aberrations
  • Chromosomes, Human, Pair 9
  • Cyclin D1 / metabolism
  • Cyclin-Dependent Kinase 4 / metabolism
  • Cytogenetic Analysis*
  • ErbB Receptors / metabolism
  • Genes, Tumor Suppressor / physiology
  • Human papillomavirus 16 / isolation & purification
  • Human papillomavirus 16 / metabolism
  • Humans
  • Oropharyngeal Neoplasms / classification*
  • Oropharyngeal Neoplasms / genetics*
  • Oropharyngeal Neoplasms / virology
  • Proto-Oncogene Proteins B-raf / metabolism

Substances

  • Biomarkers, Tumor
  • Cell Cycle Proteins
  • Cyclin D1
  • ErbB Receptors
  • Proto-Oncogene Proteins B-raf
  • Cyclin-Dependent Kinase 4