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CDC73 gene mutations in sporadic ossifying fibroma of the jaws
Yan Chen1, Da-Yan Hu2, Ting-Ting Wang3
1Department of Oral Pathology, Peking University School and Hospital of Stomatology, 22 South Zhongguancun Avenue, Haidian District, Beijing, 100081, People's Republic of China.
Background:
The tumor suppressor gene CDC73 was found to be associated with hyperparathyroidism-jaw tumor syndrome (HPT-JT), which is characterized by parathyroid adenoma or carcinoma, ossifying fibroma (OF) of the jaws, and renal and uterine lesions. Mutations in CDC73 have also been frequently detected in sporadic parathyroid carcinomas and renal tumors. However, the prevalence and range of CDC73 mutations in sporadic OFs have not been established.
Methods:
We directly sequenced coding and flanking splice junctional regions of CDC73 in 40 cases of sporadic OF of the jaws. We also used immunohistochemistry to detect parafibromin, the protein product of CDC73, in those cases.
Results:
Two novel CDC73 mutations were identified in 2 of the 40 cases (5 %). Both were somatic mutations located in exon 1 of the coding region. Strong parafibromin expression was detected in all 40 cases, irrespective of the presence of CDC73 mutations.
Conclusions:
Mutations inCDC73 were rare in sporadic OF of the jaws, but may affect the pathogenesis of a small subset of tumors of this type.
Insights
Mutations in the tumor suppressor gene CDC73 are rare in sporadic ossifying fibromas (OF) of the jaws. These CDC73 mutations may contribute to the development of a small fraction of these jaw tumors.
Area of Science:
- Oncology
- Genetics
- Pathology
Background:
- The tumor suppressor gene CDC73 is linked to hyperparathyroidism-jaw tumor syndrome (HPT-JT).
- CDC73 mutations are found in parathyroid and renal tumors.
- The role of CDC73 mutations in sporadic ossifying fibromas (OF) of the jaws is not well understood.
Purpose of the Study:
- To investigate the prevalence and spectrum of CDC73 mutations in sporadic OF of the jaws.
- To analyze the expression of parafibromin, the protein product of CDC73, in these tumors.
Main Methods:
- Direct sequencing of the CDC73 gene's coding and splice junctional regions in 40 sporadic OF cases.
- Immunohistochemistry was used to assess parafibromin protein expression in the tumor samples.
Main Results:
- Two novel CDC73 mutations were identified in 5% (2 out of 40) of sporadic OF cases.
- Both identified mutations were somatic and located in exon 1 of the CDC73 gene.
- Parafibromin expression was consistently strong in all 40 cases, regardless of CDC73 mutation status.
Conclusions:
- CDC73 mutations are infrequent in sporadic ossifying fibromas of the jaws.
- These rare mutations may play a role in the pathogenesis of a small subset of OF.
- Parafibromin expression is maintained even in the presence of CDC73 mutations in OF.
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