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Updated: Jan 29, 2026

Employing Digital Droplet PCR to Detect BRAF V600E Mutations in Formalin-fixed Paraffin-embedded Reference Standard Cell Lines
Published on: October 8, 2015
[BRAF gene mutations in ameloblastic fibromas].
1Department of Central Laboratory, Peking University School and Hospital of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Laboratory for Digital and Material Technology of Stomatology & Beijing Key Laboratory of Digital Stomatology, Beijing 100081, China.
Ameloblastic fibroma (AF) frequently harbors the BRAF V600E mutation, a key activator of the MAPK pathway. This study found the mutation in 100% of AF cases, though its exact role in AF pathogenesis requires further investigation.
Area of Science:
- Oral Pathology
- Molecular Oncology
- Genetics
Background:
- Ameloblastic fibroma (AF) is a rare odontogenic tumor.
- Understanding the molecular drivers of AF is crucial for its diagnosis and treatment.
- The BRAF gene is frequently mutated in various cancers, influencing cell signaling pathways.
Purpose of the Study:
- To identify BRAF gene mutations in ameloblastic fibroma (AF) cases.
- To analyze the correlation between BRAF mutations and clinical characteristics of AF.
- To contribute to the molecular pathology understanding of AF.
Main Methods:
- Retrospective analysis of 16 diagnosed AF cases.
- DNA extraction from formalin-fixed, paraffin-embedded tissues.
- Polymerase chain reaction (PCR) and direct sequencing to detect BRAF mutations.
Main Results:
- BRAF V600E mutation was identified in 100% of the analyzed AF samples.
- The mutation is a thymine-adenine transversion at nucleotide 1799, leading to a V600E substitution.
- No statistically significant correlation was found between BRAF mutation and clinical factors like age, sex, location, or recurrence.
Conclusions:
- High prevalence of BRAF V600E mutation in ameloblastic fibroma (AF) is demonstrated.
- The specific pathogenic role of BRAF V600E in AF requires further elucidation.
- This finding provides a new reference for the molecular pathology of AF.
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