Nevoid basal cell carcinoma syndrome: Clinical features and implications of development of basal cell carcinoma in skin and keratocystic odontogenic tumor in jaw and their gene expressions

In the present report, we review the clinical features and biophysiological roles, including gene expression, of nevoid basal cell carcinoma syndrome (NBCCS) in Japanese cases. The frequency of clinical findings of Japanese cases (n = 186) was reported in NBCCS including keratocystic odontogenic tumors (KOTs). The syndromes resulted from mutation in the patched (PTCH1) gene in both neoplastic lesion basal cell carcinoma (BCCs) and KOTs. BCCs originate from hair follicles and express Gli gene; KOTs, classically known as odontogenic keratocysts, originate from odontogenic epithelial rest cells and considerable variation in the recurrence rate after surgery. PTCH1 gene alteration may have significant roles in the pathogenesis of NBCCS and sporadic KOTs. However, their histogenetic origin was found to differ: basal cell carcinoma in the skin originated from hair follicle cells and KOTs originated from odontogenic epithelial rest cells in the jaw.