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GNAS mutation analysis assists in differentiating chronic diffuse sclerosing osteomyelitis from fibrous dysplasia in the jaw


Chronic diffuse sclerosing osteomyelitis of the mandible (DSOM) and fibrous dysplasia (FD) are distinct lesions with overlapping clinicopathological features that complicate their diagnosis. This study aimed to evaluate the efficacy of GNAS mutation analysis in differentiating between these two conditions. DNA samples from patients with DSOM (n = 35) and FD (n = 29) were collected to analyze the presence of GNAS mutations in exons 8 and 9, the two previously reported hotspot regions, using polymerase chain reaction and direct sequencing. Twenty-four of 29 patients (83%) with FD showed missense mutations in codon 201 in exon 8, whereas no mutation was detected in exon 9. No mutations were found in any of the 35 cases with DSOM. We also identified one case with an uncertain diagnosis due to overlapping clinicopathological features of DSOM and FD. A Q227H mutation was detected in this case, that confirmed the diagnosis of FD. Taken together, the findings indicate that mutational analysis of the GNAS is a reliable approach to differentiate between DSOM and FD of the jaw.

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Fig. 1: Mutational analysis of GNAS at the Arg201 codon.
Fig. 2: GNAS mutational analysis in one case with overlapping clinical characteristics of FD and DSOM.

Data availability

The datasets used and/or analyzed during the current study are available from the corresponding author on reasonable request.


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This work was supported in part by Research Unit of Precision Pathologic Diagnosis in Tumors of the Oral and Maxillofacial Regions, Chinese Academy of Medical Sciences (2019RU034). We would like to thank Dr. Ruirui Shi, Ms. Xuefen Li, and the Central Laboratory of Peking University School and Hospital of Stomatology for their support. This work was supported by CAMS Innovation Fund for Medical Sciences (2019-12M-5-038).

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Authors and Affiliations



J.A. and J.Z. performed study concept and design; J.X. and K.J. performed development of methodology and writing, review and revision of the paper; J.X. and K.J. provided acquisition, analysis and interpretation of data; J.A., T.L. and J.Z. provided technical and material support.

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Correspondence to Jianyun Zhang or Jingang An.

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Competing interests

The regional Ethical Review Board of Peking University School and Hospital of Stomatology approved this study (PKUSSIRB-202272025), and the study was performed in accordance with the Declaration of Helsinki. The authors declare no competing interests.

Ethics approval and consent to participate

The regional Ethical Review Board of Peking University School and Hospital of Stomatology approved this study (PKUSSIRB-202272025), and the study was performed in accordance with the Declaration of Helsinki.

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Xue, J., Jia, K., Li, T. et al. GNAS mutation analysis assists in differentiating chronic diffuse sclerosing osteomyelitis from fibrous dysplasia in the jaw. Mod Pathol (2022).

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