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Updated: Aug 9, 2026
06:53
Cell Population Analyses During Skin Carcinogenesis
Published on: August 21, 2013
[PTCH gene mutations in odontogenic keratocysts]
Jun-wei Yuan1, Tie-jun Li, Hao-hao Zhong
1Department of Oral Pathology, Peking University School and Hospital of Stomatology, Beijing 100081, China.
Summary
PTCH gene mutations are common in nevoid basal cell carcinoma syndrome (NBCCS)-related odontogenic keratocysts (OKCs) and also occur in sporadic OKCs. These mutations may play a role in the development of OKCs.
Area of Science:
- Genetics
- Oral Pathology
- Molecular Biology
Background:
- Odontogenic keratocysts (OKCs) are developmental cysts with a high recurrence rate.
- Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder associated with various tumors and developmental abnormalities, including OKCs.
- The PTCH gene is a tumor suppressor gene frequently mutated in NBCCS.
Purpose of the Study:
- To determine the frequency, type, and distribution of PTCH gene mutations in OKC lesions.
- To analyze the molecular pathological relationship between sporadic OKCs and OKCs associated with NBCCS.
Main Methods:
- Genomic DNA was extracted from 8 OKC lesions (4 sporadic, 4 NBCCS-related).
- PTCH gene mutations were identified using PCR-direct sequencing.
Main Results:
- Six novel PTCH mutations were found in 6 of 8 cases (2 sporadic, 4 NBCCS-related).
- Mutations included missense, insertion, and deletion types, with some causing premature protein truncation.
- All identified mutations were novel.
Conclusions:
- PTCH gene mutation is a frequent occurrence in NBCCS-related OKCs and is also present in some sporadic OKCs.
- Alterations in the PTCH gene are implicated in the pathogenesis of OKC.
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