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Updated: Aug 12, 2025

Characterize Disease-related Mutants of RAF Family Kinases by Using a Set of Practical and Feasible Methods
Published on: July 17, 2019
Cemento-osseous dysplasia is caused by RAS-MAPK activation
Simon Haefliger1, Daniel Turek1, Vanghelita Andrei1
1Bone Tumour Reference Centre, Institute of Medical Genetics and Pathology, University Hospital Basel, University of Basel, Basel, Switzerland.
Cemento-osseous dysplasia (COD) is a benign jaw lesion. Pathogenic mutations in the RAS-MAPK pathway were identified in 28% of COD samples, suggesting this pathway drives lesion development.
Area of Science:
- Oral pathology
- Molecular biology
- Genetics
Background:
- Cemento-osseous dysplasia (COD) comprises benign fibro-osseous lesions exclusively in the jaws.
- Subtypes include periapical, focal, and florid COD, all sharing similar histomorphology.
- COD typically follows an asymptomatic, self-limited course with progressive mineralization.
Purpose of the Study:
- To explore the molecular pathogenesis of Cemento-osseous Dysplasia (COD).
- To identify genetic mutations driving COD development.
Main Methods:
- Targeted sequencing of 31 COD samples.
- Analysis of mutations within the RAS-MAPK signaling pathway and associated genes.
Main Results:
- Pathogenic hotspot mutations were detected in 28% (5/18) of evaluable COD cases.
- Mutations involved key genes in the RAS-MAPK pathway: BRAF, HRAS, KRAS, NRAS, and FGFR3.
- Findings implicate RAS-MAPK pathway activation in COD pathogenesis.
Conclusions:
- Cemento-osseous dysplasia is likely driven by RAS-MAPK pathway activation.
- The precise mechanism for the spontaneous growth arrest observed in most COD lesions remains undetermined.
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