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Media type:
E-Article
Title:
PTCH1 and SMO Gene Alterations in Keratocystic Odontogenic Tumors
Contributor:
Sun, L.-S.;
Li, X.-F.;
Li, T.-J.
Published:
SAGE Publications, 2008
Published in:
Journal of Dental Research, 87 (2008) 6, Seite 575-579
Language:
English
DOI:
10.1177/154405910808700616
ISSN:
0022-0345;
1544-0591
Origination:
Footnote:
Description:
Keratocystic odontogenic tumors (KCOTs, previously known as odontogenic keratocysts) are aggressive jaw lesions that may occur in isolation or in association with nevoid basal cell carcinoma syndrome (NBCCS). Mutations in the PTCH1 ( PTCH) gene are responsible for NBCCS and are related in tumors associated with this syndrome. Mutations in the SMO gene have been identified in basal cell carcinoma and in medulloblastoma, both of which are features of NBCCS. To clarify the role of PTCH1 and SMO in KCOTs, we undertook mutational analysis of PTCH1 and SMO in 20 sporadic and 10 NBCCS-associated KCOTs, and for SMO, 20 additional cases of KCOTs with known PTCH1 status were also included. Eleven novel (1 of which occurred twice) and 5 known PTCH1 mutations were identified. However, no pathogenic mutation was detected in SMO. Our findings suggest that mutations are rare in SMO, but frequent in PTCH1 in sporadic and NBCCS-associated KCOTs. Abbreviations: NBCCS, nevoid basal cell carcinoma syndrome; KCOTs, keratocystic odontogenic tumors; BCCs, basal cell carcinomas.