牙源性角化囊肿SMO基因突变检测

Detection of SMO gene mutations in odontogenic keratocyst

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.