Journal of Clinical & Experimental Pathology
Open Access

Abstract

Aggressive cutaneous squamous cell carcinoma (cSCC) occurs frequently in the head and neck region resulting in disfiguration and even death. Furthermore, the incidence of cutaneous squamous cell carcinoma is increasing. At present time, little is known about the mutations that drive aggressive cSCC. We performed whole-exome sequencing on 39 cases of aggressive cSCC to identify driver mutations and potential therapeutic targets. Besides the well-known cancer-associated genes TP53, CDKN2A, NOTCH1, AJUBA, HRAS, CASP8, FAT1, KMT2C (MLL3), we identified 3 novel candidate tumor suppressors, NOTCH2, PARD3 and RASA1 of which germ line mutations are known to cause diseases. In addition, we found that KMT2C mutations were associated with poor outcome and increased bone invasion. These findings improve our understanding of aggressive cutaneous squamous cell carcinoma and guide the direction of further study of this disease.

Biography