Abstract
BackgroundThe keratocystic odontogenic tumor (KCOT) is a locally aggressive cystic jaw lesion that occurs sporadically or in association with nevoid basal cell carcinoma syndrome (NBCCS). PTCH1, the gene responsible for NBCCS, may play an important role in sporadic KCOTs. In this study, we analyzed and compared the distribution pattern of PTCH1 mutations in patients with sporadic and NBCCS-associated KCOTs.MethodsWe detected PTCH1 mutations in 14 patients with NBCCS-associated KCOTs and 29 patients with sporadic KCOTs by direct sequencing. In addition, five electronic databases were searched for studies detecting PTCH1 mutations in individuals with NBCCS-associated or sporadic KCOTs, published between January 1996 and June 2013 in English language.ResultsWe identified 15 mutations in 11 cases with NBCCS-associated KCOTs and 19 mutations in 13 cases with sporadic KCOTs. In addition, a total of 204 PTCH1 mutations (187 mutations from 210 cases with NBCCS-associated and 17 mutations from 57 cases with sporadic KCOTs) were compiled from 78 published papers.ConclusionsOur study indicates that mutations in transmembrane 2 (TM2) are closely related to the development of sporadic KCOTs. Moreover, for the early diagnosis of NBCCS, a genetic analysis of the PTCH1 gene should be included in the new diagnostic criteria.
Highlights
Described as cysts [1], odontogenic keratocysts (OKCs) were recategorized as neoplastic lesions under the name ‘‘karatocystic odontogenic tumors’’ (KCOTs) in the 2005 edition of the World Health Organization Classification of Head and Neck Tumors [2]
KCOTs are locally aggressive jaw cystic lesions that have putative growth potential and a propensity for recurrence [3,4]. They may occur in isolation or in association with nevoid basal cell carcinoma syndrome (NBCCS, known as Gorlin syndrome; OMIM No 109400)
Affected patients present with a spectrum of developmental abnormalities, including palmar or plantar pits, calcification of the falx cerebri, bifid ribs, and an increased susceptibility to different neoplasms, such as multiple basal cell carcinomas (BCCs), KCOTs, medulloblastoma, and ovarian fibroma [7,8,9]
Summary
Described as cysts [1], odontogenic keratocysts (OKCs) were recategorized as neoplastic lesions under the name ‘‘karatocystic odontogenic tumors’’ (KCOTs) in the 2005 edition of the World Health Organization Classification of Head and Neck Tumors [2]. KCOTs are locally aggressive jaw cystic lesions that have putative growth potential and a propensity for recurrence [3,4]. They may occur in isolation or in association with nevoid basal cell carcinoma syndrome (NBCCS, known as Gorlin syndrome; OMIM No 109400). The human homolog of the Drosophila segment polarity gene PTCH1 (OMIM No 601309) has been identified as the gene responsible for NBCCS [10,11,12]. The keratocystic odontogenic tumor (KCOT) is a locally aggressive cystic jaw lesion that occurs sporadically or in association with nevoid basal cell carcinoma syndrome (NBCCS). We analyzed and compared the distribution pattern of PTCH1 mutations in patients with sporadic and NBCCS-associated KCOTs
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