基于WES的GNAS基因突变分析在纤维结构不良与骨化纤维瘤鉴别诊断中的价值

doi:10.19438/j.cjoms.2025.04.008

中国口腔颌面外科杂志 ›› 2025, Vol. 23 ›› Issue (4): 361-368.doi: 10.19438/j.cjoms.2025.04.008

基于WES的GNAS基因突变分析在纤维结构不良与骨化纤维瘤鉴别诊断中的价值

王辰睿¹, 李岩¹, 李江², 张志愿³

1.上海交通大学医学院附属第九人民医院口腔外科,2.口腔病理科,3.口腔颌面-头颈肿瘤科,上海交通大学口腔医学院,国家口腔医学中心,国家口腔疾病临床医学研究中心,上海市口腔医学重点实验室,上海市口腔医学研究所,中国医学科学院口腔颌面再生医学创新单元,上海 200011

收稿日期:2024-11-05 修回日期:2025-03-18 出版日期:2025-07-20 发布日期:2025-08-04
通讯作者: 张志愿,E-mail: zhzhy0502@163.com
作者简介:王辰睿（1999-）,男,硕士,E-mail: 908562857@qq.com
基金资助:
上海市重中之重研究项目（2022ZZ01017）

Exploration of the value of GNAS mutation analysis based on whole exome sequencing in the differential diagnosis between fibrous dysplasia and ossifying fibroma

Wang Chenrui¹, Li Yan¹, Li Jiang², Zhang Zhiyuan³

1. Department of Oral Surgery, 2. Department of Oral Pathology, 3. 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

Received:2024-11-05 Revised:2025-03-18 Online:2025-07-20 Published:2025-08-04

摘要/Abstract

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。

关键词: 纤维结构不良, 骨化纤维瘤, 全外显子测序, Sanger测序

Abstract: 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.

Key words: Fibrous dysplasia, Ossifying fibroma, WES, Sanger suquencing

中图分类号:

R739.8
R682

王辰睿, 李岩, 李江, 张志愿. 基于WES的GNAS基因突变分析在纤维结构不良与骨化纤维瘤鉴别诊断中的价值[J]. 中国口腔颌面外科杂志, 2025, 23(4): 361-368.

Wang Chenrui, Li Yan, Li Jiang, Zhang Zhiyuan. Exploration of the value of GNAS mutation analysis based on whole exome sequencing in the differential diagnosis between fibrous dysplasia and ossifying fibroma[J]. China J Oral Maxillofac Surg, 2025, 23(4): 361-368.

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基于WES的GNAS基因突变分析在纤维结构不良与骨化纤维瘤鉴别诊断中的价值

Exploration of the value of GNAS mutation analysis based on whole exome sequencing in the differential diagnosis between fibrous dysplasia and ossifying fibroma

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