302 Molecular and mutational signatures of squamous cell carcinomas in epidermolysis bullosa

Epidermolysis bullosa (EB) comprises rare genodermatoses associated with widespread blistering due to fragility of the skin. Squamous cell carcinomas (SCC) are major complications of EB. We analysed molecular and mutational signatures of 48 SCC obtained from patients with EB, 10 with recessive dystrophic epidermolysis bullosa (RDEB), seven with Kindler syndrome (KS) and one patient with junctional epidermolysis bullosa (JEB). Although we observed significant tumour heterogeneity, some common characteristics emerged.

Source: Journal of Investigative Dermatology - August 31, 2019 Category: Dermatology Authors: S. Lu, M.E. Hess, A. Reimer, D. Castiglia, Y. He, D.A. Rafei-Shamsabadi, Dv Bubnoff, F. Meiss, M. Boerries, C. Has Tags: Genetics and Cell Based Therapy Source Type: research