摘要
目的:通过两种方法检测GNAS基因突变在纤维结构不良(fibrous dysplasia,FD)中的发生频率并通过文献复习获得骨化纤维瘤(ossifying fibroma,OF)中GNAS的突变率,为其鉴别诊断提供新的方法。方法:收集20例FD的石蜡组织样本,提取标本中的基因组DNA,采用全外显子测序方法(whole exome sequencing,WES)检测病变骨组织中GNAS基因突变并用Sanger测序验证。通过文献复习,明确GNAS在OF中的检出率。比较GNAS基因在FD和OF中的突变情况。结果:20例FD患者中,19例(95%)检测到GNAS突变;但在文献复习中获得的45例OF病变中,未检测到GNAS突变。报告1例由于临床病理特征重叠,仅根据常规临床和病理检查难以区分为FD或OF的疑难病例,通过GNAS检测,该病例携带特征性的R201C突变,协助明确了FD的诊断。结论:WES和Sanger测序检测GNAS突变,均可辅助FD和OF的鉴别诊断。
PURPOSE:To determine the frequency of GNAS mutations in fibrous dysplasia(FD)by two methods and to obtain the mutation rate of GNAS in ossifying fibroma(OF)through literature review,providing a new approach for their differential diagnosis.METHODS:Paraffin tissue samples from 20 FD patients were collected,and genomic DNA was extracted.GNAS gene mutations in the affected bone tissues were detected by whole exome sequencing(WES)and verified by Sanger sequencing.The detection rate of GNAS in OF was determined through literature review.The mutation status of GNAS in FD and OF was compared.RESULTS:GNAS mutations were detected in 19 out of 20 FD patients(95%),while no GNAS mutations were found in the 45 OF lesions obtained from literature review.A difficult case with overlapping clinical and pathological features that was difficult to distinguish FD or OF based on routine clinical and pathological examination alone was reported.Through GNAS testing,this case was found to carry the characteristic R201C mutation,thus assisting in the diagnosis of FD.CONCLUSIONS:Both WES and Sanger sequencing for GNAS mutations can assist in the differential diagnosis of FD and OF.
作者
王辰睿
李岩
李江
张志愿
Wang Chenrui;Li Yan;Li Jiang;Zhang Zhiyuan(Department of Oral Surgery,Shanghai Ninth People’s Hospital,Shanghai Jiao Tong University School of Medicine,College of Stomatology,Shanghai Jiao Tong University,National Center for Stomatology,National Clinical Research Center for Oral Diseases,Shanghai Key Laboratory of Stomatology,Shanghai Research Institute of Stomatology,Research Unit of Oral and Maxillofacial Regenerative Medicine,Chinese Academy of Medical Sciences,Shanghai 200011,China;Department of Oral Pathology,Shanghai Ninth People’s Hospital,Shanghai Jiao Tong University School of Medicine,College of Stomatology,Shanghai Jiao Tong University,National Center for Stomatology,National Clinical Research Center for Oral Diseases,Shanghai Key Laboratory of Stomatology,Shanghai Research Institute of Stomatology,Research Unit of Oral and Maxillofacial Regenerative Medicine,Chinese Academy of Medical Sciences,Shanghai 200011,China;Department of Oromaxillofacial Head and Neck Oncology,Shanghai Ninth People’s Hospital,Shanghai Jiao Tong University School of Medicine,College of Stomatology,Shanghai Jiao Tong University,National Center for Stomatology,National Clinical Research Center for Oral Diseases,Shanghai Key Laboratory of Stomatology,Shanghai Research Institute of Stomatology,Research Unit of Oral and Maxillofacial Regenerative Medicine,Chinese Academy of Medical Sciences,Shanghai 200011,China)
出处
《中国口腔颌面外科杂志》
2025年第4期361-368,共8页
China Journal of Oral and Maxillofacial Surgery
基金
上海市重中之重研究项目(2022ZZ01017)。
