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Updated: Sep 11, 2025
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Stimulation of Notch Signaling in Mouse Osteoclast Precursors
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Cemento-osseous dysplasia with a NOTCH4 mutation: a case report
Gerben E Breimer1, Nard G Janssen2, Anne M L Jansen3
1Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands. g.e.breimer-2@umcutrecht.nl.
Virchows Archiv : an International Journal of Pathology
|August 15, 2025
Summary
A novel NOTCH4 mutation was discovered in a case of cemento-osseous dysplasia (COD), a jaw lesion. This finding suggests Notch signaling may play a role in COD pathogenesis and aids in differentiating it from cemento-ossifying fibroma (COF).
Area of Science:
- Oral pathology
- Genetics
- Oncology
Background:
- Cemento-osseous dysplasia (COD) is a benign jaw lesion that can be mistaken for cemento-ossifying fibroma (COF).
- While RAS-MAPK pathway mutations are linked to COD, its full molecular profile is unclear.
Purpose of the Study:
- To identify the molecular underpinnings of COD.
- To explore potential genetic differences between COD and COF.
Main Methods:
- Case report of a 32-year-old woman with a mandibular lesion.
- Radiographic and histopathological analysis.
- Next-generation sequencing using the TSO500 panel.
Main Results:
- Histopathology confirmed COD features.
- Next-generation sequencing revealed a novel NOTCH4 mutation.
- This mutation was previously unreported in COD.
Conclusions:
- The identified NOTCH4 mutation expands the known genetic alterations in COD.
- Notch signaling may be involved in the pathogenesis of COD.
- Molecular profiling could improve COD and COF differentiation.
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