期刊
JOURNAL OF ORAL PATHOLOGY & MEDICINE
卷 50, 期 5, 页码 478-484出版社
WILEY
DOI: 10.1111/jop.13155
关键词
ameloblastoma; BRAF; BRAF p.V600E; dentigerous cyst; odontogenic tumour
资金
- Fundacao de Amparo a Pesquisa do Estado de Minas Gerais (FAPEMIG)
- Coordination for the Improvement of Higher Education Personel (CAPES) [001]
This study found a high homogeneity of BRAF p.V600E mutation in unicystic ameloblastoma, regardless of different histopathological features observed under light microscopy. This suggests that molecular testing for BRAF p.V600E may aid in accurately diagnosing cases resembling other odontogenic lesions.
Background: BRAF p.V600E is reported in up to 80% of ameloblastomas. Despite the high frequency, the presence of this mutation in different histopathological areas of the tumour has not been investigated. This information has an important role in the use of BRAF p.V600E assessment as an auxiliary tool in the differential diagnosis between unicystic ameloblastoma and other odontogenic cystic lesions, especially when only incisional biopsies are available. Therefore, the purpose of the present study was to investigate BRAF p.V600E heterogeneity in unicystic ameloblastoma. Methods: Five cases of ameloblastoma and two dentigerous cysts were analysed. The regions exhibiting different microscopic characteristics were selected from each ameloblastoma case and manually dissected. TaqMan allele-specific qPCR or Sanger sequencing was performed to determine BRAF p.V600E status. Results: We screened the mutation in a small cohort of UA and no molecular heterogeneity was found. Four cases of ameloblastoma (80%) exhibited BRAF p.V600E in all different areas evaluated. One case did not harbour the mutation in any microscopic region analysed. The BRAF mutation was absent in the dentigerous cysts. Conclusion: Ameloblastomas appear to exhibit a homogeneous profile regarding the BRAF p.V600E no matter what histological feature is observed under light microscopy, suggesting that this molecular test may contribute to establish the correct diagnosis in cases microscopically resembling other odontogenic lesions.
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