Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)

• Published in: Head & neck pathology (Totowa, N.J.) Vol. 10; no. 2; pp. 119 - 124
• Main Authors: Bresler, Scott C., Padwa, Bonnie L., Granter, Scott R.
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.06.2016
• Subjects: 2016; Basal Cell Nevus Syndrome - metabolism; Dentistry; Hedgehog Proteins - metabolism; Humans; March 13; Medicine; Medicine & Public Health; Oral and Maxillofacial Surgery; Otorhinolaryngology; Pathology; Proceedings of the North American Society of Head and Neck Pathology Companion Meeting; Seattle; Washington; Gorlin syndrome; SMO; PTCH1; SUFU; Keratocystic odontogenic tumor; Basal cell nevus syndrome; Vismodegib; Nevoid basal cell carcinoma syndrome
• ISSN: 1936-055X; 1936-0568
• DOI: 10.1007/s12105-016-0706-9

Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor cell proliferation. As sporadic basal cell carcinomas also commonly harbor hedgehog pathway aberrations, therapeutic agents targeting key signaling constituents have been developed and tested against advanced sporadically occurring tumors or syndromic disease, leading in 2013 to FDA approval of the first hedgehog pathway-targeted small molecule, vismodegib. The elucidation of the molecular pathogenesis of nevoid basal cell carcinoma syndrome has resulted in further understanding of the most common human malignancy.