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

doi:10.19438/j.cjoms.2025.04.008

Abstract

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

CLC Number:

R739.8
R682

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 Journal of Oral and Maxillofacial Surgery, 2025, 23(4): 361-368.

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