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.
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Originally posted at NCBI.nih.gov
Authors: Bresler SC1,2, Padwa BL3,4, Granter SR5
1Department of Pathology, Brigham and Women’s Hospital, 75 Francis St., Boston, MA, 02115, USA.2Harvard Medical School, Boston, MA, USA.3Department of Plastic and Oral Surgery, Boston Children’s Hospital, Boston, MA, USA.4Harvard School of Dental Medicine, Boston, MA, USA.5Department of Pathology, Brigham and Women’s Hospital, 75 Francis St., Boston, MA, 02115, USA. sgranter@partners.org.6Harvard Medical School, Boston, MA, USA. sgranter@partners.org.
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