Using Comprehensive Genomic Profiling to Identify Rare Subsets of Merkel Cell Carcinoma

Ryan C. DeCoste, MD, QEII Health Sciences Centre, Nova Scotia Health Authority, Halifax, Nova Scotia, Canada, discusses how comprehensive genomic profiling can be used to identify rare subsets of patients with Merkel cell carcinoma.

Merkel cell carcinoma is a relatively rare but highly aggressive skin cancer, according to DeCoste. A previous publication identified a subset of these patients, making up approximately 80% of cases, are associated with a viral oncogenic pathogenesis, which incorporates Merkel cell papilloma virus DNA into precursor cells for subsequent tumorigenesis. However, subsequent to this, a smaller subset was thought not to be associated with this virus and more likely due to UV-induced DNA damage.

Based on these observations, Merkel cell carcinoma can be classified in 1 of 2 categories: virus-positive or virus-negative, and these subsets each have distinct mutational profiles, DeCoste notes.