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Investigation of Oncogenic Gene Mutation and Associated Protein Expression in Ameloblastic Carcinoma
Puangwan Lapthanasupkul1, Jintana Pankam2, Siribang-On Piboonniyom Khovidhunkit3
1Department of Oral and Maxillofacial Pathology, Faculty of Dentistry, Mahidol University, Bangkok, Thailand.
Objective:
This study aimed to investigate gene mutations in ameloblastic carcinoma (AC) including BRAF, KRAS, and PIK3CA, along with associated protein expressions of BRAF V600E, p-ERK1/2, and p-mTOR, which represent activation of MAPK/ERK and PI3K/mTOR pathways, respectively.
Materials And Methods:
Ten formalin-fixed, paraffin-embedded AC tissue samples were collected. Tumor area samples were manually micro-dissected for DNA extraction. All samples then underwent gene amplification using polymerase chain reaction and were subsequently sent for DNA sequencing. The investigation of protein expressions was assessed using immunohistochemistry.
Results:
Heterozygous mutations in BRAF, KRAS, and PIK3CA were observed in 40.0%, 30.0%, and 30.0% of AC cases, respectively. Notably, 75.0% of BRAF-mutated cases (3/4) co-harbored either KRAS or PIK3CA mutations. Immunohistochemical analysis revealed BRAF V600E expression in 40.0% of cases. AC also expressed mild immunostaining for p-ERK1/2 (mean IRS ± SD; 2.50 ± 2.526) and moderate immunostaining for p-mTOR (mean IRS ± SD; 7.62 ± 2.869), within both the cytoplasm and nucleus of the tumor cells.
Conclusion:
The presence of these oncogenic gene mutations and protein expressions suggests that MAPK/ERK and PI3K/mTOR pathways may contribute to AC pathogenesis. However, further studies with larger sample sizes are needed to confirm these findings.
Insights
Gene mutations in BRAF, KRAS, and PIK3CA were found in ameloblastic carcinoma (AC), suggesting involvement of MAPK/ERK and PI3K/mTOR pathways in AC development. Further research is needed to confirm these findings.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Ameloblastic carcinoma (AC) is a rare odontogenic tumor.
- Understanding the molecular drivers of AC is crucial for targeted therapies.
Purpose of the Study:
- To investigate gene mutations (BRAF, KRAS, PIK3CA) and protein expression (BRAF V600E, p-ERK1/2, p-mTOR) in AC.
- To assess the activation of MAPK/ERK and PI3K/mTOR pathways in AC pathogenesis.
Main Methods:
- Analysis of 10 AC tissue samples using DNA sequencing for gene mutations.
- Immunohistochemistry was employed to evaluate protein expression levels.
Main Results:
- Mutations in BRAF (40.0%), KRAS (30.0%), and PIK3CA (30.0%) were identified.
- BRAF V600E expression was observed in 40.0% of cases.
- Evidence of activated MAPK/ERK and PI3K/mTOR pathways through p-ERK1/2 and p-mTOR expression.
Conclusions:
- The identified gene mutations and protein expressions suggest a role for MAPK/ERK and PI3K/mTOR pathways in AC.
- Larger studies are recommended to validate these preliminary findings and their clinical implications.
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