牙源性角化囊肿SMO基因突变检测  

Detection of SMO gene mutations in odontogenic keratocyst

作　　者：翟洁梅 王珊[2] 洪瑛瑛 曲佳菲 杨春[2] 李铁军[1] Zhai Jiemei;Wang Shan;Hong Yingying;Qu Jiafei;Yang Chun;Li Tiejun(Department of Oral Pathology,Peking University School and Hospital of Stomatology&National Center of Stomatology&National Clinical Research Center for Oral Diseases&National Engineering Research Center of Oral Biomaterials and Digital Medical Devices&Beijing Key Laboratory of Digital Stomatology,Beijing 100081,China;Department of Basic Science,School of Stomatology,Kunming Medical University,Kunming 650500,China;First Clinical Division,Peking University School and Hospital of Stomatology&National Center of Stomatology&National Clinical Research Center for Oral Diseases&National Engineering Research Center of Oral Biomaterials and Digital Medical Devices&Beijing Key Laboratory of Digital Stomatology,Beijing 100081,China;Department of International VIP Dental Clinic,Tianjin Stomatological Hospital,Tianjin Key Laboratory of Oral and Maxillofacial Function Reconstruction,Tianjin 300041,China)

机构地区：[1]北京大学口腔医学院·口腔医院病理科,国家口腔医学中心,国家口腔疾病临床医学研究中心,口腔生物材料和数字诊疗装备国家工程研究中心,口腔数字医学北京市重点实验室,北京100081 [2]昆明医科大学口腔医学院口腔基础医学教研室,昆明650500 [3]北京大学口腔医学院·口腔医院门诊部,国家口腔医学中心,国家口腔疾病临床医学研究中心,口腔生物材料和数字诊疗装备国家工程研究中心,口腔数字医学北京市重点实验室,北京100081 [4]天津市口腔医院国际诊疗中心,天津市口腔功能重建重点实验室,天津300041

出　　处：《中华口腔医学杂志》2022年第2期149-153,共5页Chinese Journal of Stomatology

基　　金：国家自然科学基金(81960203,81700945,82101032);云南省科技厅-昆明医科大学联合专项(2019FE001-089)。

摘　　要：目的检测牙源性角化囊肿(odontogenic keratocyst,OKC)是否存在SMO基因突变,进一步完善对OKC发病机制的认识。方法收集2012年9月至2017年6月就诊于北京大学口腔医学院·口腔医院口腔颌面外科的OKC患者,10例为痣样基底细胞癌综合征性OKC(女性4例,男性6例),20例为散发性OKC(女性7例,男性13例)。采集患者的病变组织,分离衬里上皮和纤维间质,采用Sanger测序法分别检测上皮与间质DNA中SMO基因突变情况。结果检测发现3个SMO基因突变位点,即1例综合征性OKC携带c.2081C>G(p.P694R)突变,2例散发性OKC分别携带c.907C>T(p.L303F)突变和c.1247_1248delinsAA(p.G416E)突变,前2例突变为未被报道过的SMO新突变,且2例散发性OKC均不伴PTCH1突变。结论除PTCH1突变外,OKC还存在SMO基因突变,可能与OKC的发病机制有关。Objective To detect the SMO mutations in odontogenic keratocyst(OKC)and to explore the mechanism behind.Methods Patients with OKC who received treatment in the Department of Oral and Maxillofacial Surgery,School and Hospital of Stomatology,Peking University,from September 2012 to June 2017 were enrolled.OKC samples from 10 patients diagnosed as naevoid basal cell carcinoma syndrome(NBCCS)-related OKC(4 females and 6 males)and 20 patients diagnosed as sporadic OKC(7 females and 13 males)were collected.Genomic DNAs were extracted from fibrous capsules and epithelial lining respectively.SMO mutations were detected and analyzed by Sanger sequencing.Results Three SMO mutations were found in one NBCCS-associated OKC who carrying c.2081C>G(p.P694R)mutation)and two sporadic OKC who carrying c.907C>T(p.L303F)mutation and c.1247_1248delinsAA(p.G416E),respectively),among which the first two mutations were novel mutations that had not been reported before.Besides,two mutations in sporadic OKC were not paired with PTCH1 mutations.Conclusions In addition to PTCH1 gene mutations,SMO gene mutations also exist in OKC which might be related to the development of OKC.

关 键 词：牙源性囊肿 牙源性角化囊肿 SMO基因 基因突变 SHH通路抑制剂 

分 类 号：R781[医药卫生—口腔医学]