Abstract
BackgroundIt 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.MethodsPolymerase chain reaction (PCR), capillary electrophoresis and dideoxy chain-termination sequencing were used to examine potential DNA alterations in sporadic KCOTs.ResultsFive 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).ConclusionsSMO 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.
Highlights
It has been widely demonstrated that the hedgehog pathway is strongly associated with basal cell carcinoma of the skin (NBCCS)
The great majority of keratocysts occur in isolation as single, non-syndromic cysts, they may present as multiple cysts as a feature of the nevoid basal cell carcinoma syndrome (Gorlin syndrome, OMIM#109400) [4]
There are many manuscripts that focus on the relationship between keratocystic odontogenic tumors (KCOTs) and PTCH1 gene mutations, demonstrating that PTCH1, the gene responsible for NBCCS, may play an important role in sporadic KCOTs [5,6,7,8]
Summary
Odontogenic keratocyst (OKC) is an aggressive, cystic jaw lesion with strong growth potential and a high recurrence rate. The World Health Organization (WHO) revised its name to keratocystic odontogenic tumor (KCOT). This reclassification is based on its aggressive behavior and high recurrence rate, emphasizing that KCOT is a benign tumor rather than a cyst [1,2,3]. There are many manuscripts that focus on the relationship between KCOT and PTCH1 (patched) gene mutations, demonstrating that PTCH1, the gene responsible for NBCCS, may play an important role in sporadic KCOTs [5,6,7,8]. SMO, the main activator of the HH pathway may serve as a catalyst during the generation of cysts, and genetic mutations of SMO are of great importance
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