PTCH mutations in sporadic and Gorlin-syndrome-related odontogenic keratocysts

Odontogenic keratocysts are relatively common lesions that may occur in isolation or in association with nevoid basal cell carcinoma syndrome ( or Gorlin syndrome). The PTCH gene has been reported to be associated with Gorlin syndrome. We investigated 10 cases of non-syndromic keratocysts and two other cases associated with Gorlin syndrome, looking for PTCH mutations. Four novel and 1 known PTCH mutations were identified in five individual patients. Of the 5 mutations identified, 2 were germ-line mutations ( 2619C > A; 1338_ 1339insGCG) in 2 cysts associated with Gorlin syndrome, and 3 were somatic mutations (3124_ 3129dupGTGTGC; 1361_ 1364delGTCT; 3913G > T) in 3 nonsyndromic cysts. This report describes PTCH mutations in both non-syndromic and Gorlinsyndromerelated odontogenic keratocysts in Chinese patients, and suggests that defects of PTCH are associated with the pathogenesis of syndromic as well as a subset of non-syndromic keratocysts.