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DNA analysis of the SH3BP2 gene in patients with aggressive central giant cell granuloma
Jan de Lange1, Merel C van Maarle, Hans P van den Akker
1Department of Oral and Maxillofacial Surgery, Academic Medical Center/Academic Center for Dentistry (ACTA), University of Amsterdam, The Netherlands.
Insights
Genetic analysis revealed no SH3BP2 gene mutations in aggressive giant cell granuloma, suggesting it is distinct from cherubism. Further tissue analysis is recommended to investigate potential somatic mutations.
Area of Science:
- Genetics
- Oral pathology
- Oncology
Background:
- Cherubism is a genetic disorder caused by SH3BP2 gene mutations.
- Central giant cell granuloma (CGCG) shares clinical and histopathological similarities with cherubism.
- Aggressive CGCG presents with pain, paraesthesia, rapid growth, or root resorption.
Purpose of the Study:
- To investigate the role of the SH3BP2 gene in aggressive central giant cell granuloma.
- To determine if SH3BP2 gene mutations differentiate CGCG from cherubism.
Main Methods:
- Constitutional DNA analysis of the SH3BP2 gene was performed on four patients with aggressive CGCG.
- Clinical and histopathological features of the patients were documented.
Main Results:
- No mutations in the SH3BP2 gene were detected in the constitutional DNA of patients with aggressive CGCG.
- The findings suggest that cherubism and CGCG are distinct entities.
Conclusions:
- The SH3BP2 gene is not implicated in the development of aggressive CGCG.
- Cherubism is a separate condition from CGCG.
- Somatic mutations within specific cells could potentially cause focal lesions in CGCG, warranting further investigation.
Abstract:
A mutation of the SH3BP2 gene is known to cause cherubism. As there are clinical and histopathological similarities between central giant cell granuloma and cherubism, we made a constitutional DNA analysis of the SH3BP2 gene in four patients with aggressive giant cell granuloma (having one or more of the following features pain, paraesthesia, rapid growth, or root resorption). We found no mutations in the SH3BP2 gene, which indicates that cherubism is a separate entity. However, a somatic mutation in a specific group of cells could cause the focal lesions in giant cell granuloma. Further DNA analysis of the tissue of giant cell granulomas therefore seems indicated.
