483 PTCH1 inactivation is sufficient to cause basaloid follicular hamartoma in pediatric Nevoid basal cell carcinoma syndrome

Abstract

Nevoid basal cell carcinoma syndrome (NBCS, Gorlin syndrome) is a rare autosomal-dominant entity and the most common hereditary form of basal cell cancer (BCC). Aberrant activation of Sonic hedgehog pathway underlies BCC onset, and germline mutations of its components, mostly tumor suppressor PTCH1, are causing NBCS. Basaloid lesions from pediatric patients with NBCS differ from adult BCCs, both clinically and histologically. Here, we report results of a whole exome sequencing of 15 basaloid lesions from three unrelated pediatric patients with NBCS, which correspond to basaloid follicular hamartomas (BFH).