Patched homolog 1 gene mutation (p.G1093R) induces nevoid basal cell carcinoma syndrome and non-syndromic keratocystic odontogenic tumors: A case report

Multiple keratocystic odontogenic tumors (KCOT) occurred in a young child is challenging problem in the field of pediatric dentistry, and might have been related to nevoid basal cell carcinoma syndrome (NBCCS). Because of high recurrence rate of KCOTs, complete surgical resection is generally accepted as definitive treatment. However, complete surgical resection could induce negative effect on the development of permanent teeth and growth of jaw. Herein, we reported successful treatment case of young KCOT patient with NBCCS. Although multiple KCOTs occurred continually, the majority of the lesions healed well by decompression and important anatomical structures and permanent teeth were successfully preserved. The purpose of this paper is to report more conservative treatment of multiple keratocystic odontogenic tumors (KCOTs) by repeated decompressions with later peripheral ostectomy during a 7-year follow-up.

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Synchronous Occurrence of Odontogenic Myxoma With Multiple Keratocystic Odontogenic Tumors in Nevoid Basal Cell Carcinoma Syndrome

Journal of Craniofacial Surgery ◽

10.1097/scs.0b013e318275eb4b ◽

2013 ◽

Vol 24 (5) ◽

pp. 1840-1842 ◽

Cited By ~ 2

Author(s):

Zhe Shao ◽

Bing Liu ◽

WenFeng Zhang ◽

XinMing Chen

Keyword(s):

Basal Cell Carcinoma ◽

Cell Carcinoma ◽

Basal Cell ◽

Odontogenic Tumors ◽

Odontogenic Myxoma ◽

Keratocystic Odontogenic Tumors

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PTCH1 and SMO Gene Alterations in Keratocystic Odontogenic Tumors

Journal of Dental Research ◽

10.1177/154405910808700616 ◽

2008 ◽

Vol 87 (6) ◽

pp. 575-579 ◽

Cited By ~ 46

Author(s):

L.-S. Sun ◽

X.-F. Li ◽

T.-J. Li

Keyword(s):

Basal Cell Carcinoma ◽

Cell Carcinoma ◽

Basal Cell ◽

Mutational Analysis ◽

Pathogenic Mutation ◽

Odontogenic Tumors ◽

Basal Cell Carcinomas ◽

Keratocystic Odontogenic Tumors ◽

Gene Alterations

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.

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