Several specific genetic mutations appear to be associated with development of smoking-related skin cancers of the head and neck, according to an article in the January 10 issue of the Journal of the American Medical Association.

Despite its slowly declining incidence rate and a modest improvement in 5-year survival, squamous cell carcinoma of the head and neck continues to be a clinical challenge. Even with the use of modern therapeutic options that include surgery, radiation therapy, and chemotherapeutic intervention, 50 percent of all patients ultimately die of their disease.

Charis Eng, MD, PhD, of the Genomic Medicine Institute at the Cleveland Clinic Foundation, Cleveland, and colleagues conducted a study to determine the extent of genomic alterations in the stroma of head and neck squamous cell carcinoma.
Tumor epithelium and surrounding stroma were isolated from 122 patients with oral cavity and oropharyngeal or hypopharyngeal tumors; tissues were subjected to whole genome analysis.

Tumor-associated stroma tissues from smokers were found to have a high degree of genomic alterations. A correlation between tumor aggressiveness could be found for a specific set of 5 loci. Three stroma-specific loci were associated with tumor size and regional node metastases. In addition, 2 specific genomic alterations positively correlated with node metastases and clinical stage.

"Stroma-specific genetic alterations are associated with smoking-related head and neck squamous cell carcinoma genesis," the authors wrote. "We hope that our genomic observations, which point to genomic regions that may harbor many genes, will guide future in-depth functional and mechanistic studies. Nevertheless, our current observations can be used to identify new biomarkers for prediction of clinical outcome and potentially novel compartments for targeted therapy and prevention."