Identification of Known and Novel PTCH Mutations in Both Syndromic and Non-syndromic Keratocystic Odontogenic Tumors

Abstract

Aim

To clarify the role of PTCH in patients with NBCCS-related and non-sydromic keratocystic odontogenic tumors.

Methodology

Mutation analysis was undertaken in 8 sporadic and 4 NBCCS-associated KCOTs.

Results

Four novel and two known mutations were identified in 2 sporadic and 3 syndromic cases, two of which being germline mutations (c.2179delT, c.2824delC) and 4 somatic mutations (c.3162dupG, c.1362–1374dup, c.1012 C>T, c.403C>T).

Conclusion

Our findings suggest that defects of PTCH are associated with the pathogenesis of syndromic as well as a subset of non-syndromic KCOTs.