Identification of Known and Novel PTCH Mutations in Both Syndromic and Non-syndromic Keratocystic Odontogenic Tumors  

作　　者：Shuang Pan Li-li Xu Li-sha Sun Tie-jun Li 

机构地区：[1]Department of Oral Pathology, Peking University School and Hospital of Storaatology, Beijing, China

出　　处：《International Journal of Oral Science》2009年第1期34-38,共5页国际口腔科学杂志（英文版）

基　　金：supported by Research Grants from the National Nature Science Foundation of China(30625044,30572048 and 30872900);Specialized Research Fund for the Doctoral Program of Higher Education(20050001110)

摘　　要：Aim To clarify the role of PTCH in patients with NBCCS- related and non-sydromic keratocystic odontogenic tumors. Methodology Mutation analysis was undertaken in 8 sporadic and 4 NBCCS-associated KCOTs. Results Four novel and two known mutations were identifled in 2 sporadic and 3 syndromic cases, two of which being germline mutations （c.2179delT, c.2824delC） and 4 somatic mutations （c.3162dupG, c.1362-1374dup, c.1012 C〉T, c.403C〉T）. Conclusion Our findings suggest that defects of PTCH are associated with the pathogenesis of syndromic as well as a subset of non-syndromic KCOTs.Aim To clarify the role of PTCH in patients with NBCCS- related and non-sydromic keratocystic odontogenic tumors. Methodology Mutation analysis was undertaken in 8 sporadic and 4 NBCCS-associated KCOTs. Results Four novel and two known mutations were identifled in 2 sporadic and 3 syndromic cases, two of which being germline mutations （c.2179delT, c.2824delC） and 4 somatic mutations （c.3162dupG, c.1362-1374dup, c.1012 C〉T, c.403C〉T）. Conclusion Our findings suggest that defects of PTCH are associated with the pathogenesis of syndromic as well as a subset of non-syndromic KCOTs.

关 键 词：keratocystic odontogenic tumor mutation nevoid basal cell carcinoma syndrome PTCH 

分 类 号：R780.1[医药卫生—口腔医学]