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Updated: Apr 24, 2026
Cell Population Analyses During Skin Carcinogenesis
Published on: August 21, 2013
Smoothened gene alterations in keratocystic odontogenic tumors
Zhang Rui, Peng Li-Ying, Qu Jia-Fei
1Department of Oral Pathology, Peking University School and Hospital of Stomatology, 22 Zhongguancun Avenue South, Haidian District, Beijing 100081, China. moleculecf@gmail.com.
Background:
It has been widely demonstrated that the hedgehog pathway is strongly associated with basal cell carcinoma of the skin (NBCCS). To assess potential DNA alterations related to keratocystic odontogenic tumors (KCOTs), we sequenced smoothened (SMO) genes in 12 sporadic KCOTs.
Methods:
Polymerase chain reaction (PCR), capillary electrophoresis and dideoxy chain-termination sequencing were used to examine potential DNA alterations in sporadic KCOTs.
Results:
Five alterations in SMO genes were detected. Four of these mutations consisted of two synonymous and three missense mutations; two of which have not been reported to date (c.T776A, c.T1281G).
Conclusions:
SMO genes may play an important role in the sonic hedgehog (SHH) pathway and could also be responsible for generating KCOTs and NBCCS. However, their influence on SHH signaling remains to be elucidated.
Insights
Smoothened (SMO) gene alterations were found in keratocystic odontogenic tumors (KCOTs). These mutations may contribute to KCOTs and basal cell carcinoma development via the sonic hedgehog (SHH) pathway.
Area of Science:
- Genetics
- Oncology
- Oral Pathology
Background:
- The hedgehog signaling pathway is implicated in nevoid basal cell carcinoma syndrome (NBCCS).
- Keratocystic odontogenic tumors (KCOTs) are cystic jaw lesions with potential for recurrence.
Purpose of the Study:
- To investigate DNA alterations in the smoothened (SMO) gene in sporadic KCOTs.
- To explore the potential role of SMO gene mutations in KCOT pathogenesis.
Main Methods:
- DNA was extracted from 12 sporadic KCOT samples.
- Polymerase chain reaction (PCR) and dideoxy chain-termination sequencing were employed to analyze SMO gene sequences.
Main Results:
- Five distinct alterations were identified within the SMO gene.
- These included two synonymous and three missense mutations, with two novel mutations (c.T776A, c.T1281G) reported.
Conclusions:
- SMO gene mutations may contribute to the development of KCOTs.
- These findings suggest a potential role for SMO in the sonic hedgehog (SHH) pathway in KCOT and NBCCS pathogenesis.
- Further research is needed to fully elucidate the impact of SMO alterations on SHH signaling.
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