Braf and Ras Mutations in Vietnamese Patients With Ameloblastoma

Background Ameloblastoma is a benign but locally aggressive odontogenic tumor. Genetic mutations in the mitogen-activated protein kinase (MAPK) signaling pathway, particularly those in BRAF and RAS , have been increasingly implicated in its pathogenesis, but remain underreported in Vietnamese patients. Methods Ninety-six formalin-fixed paraffin-embedded (FFPE) ameloblastoma samples from Vietnamese patients were retrospectively analyzed. Targeted exons of BRAF and RAS genes were amplified by PCR and sequenced using Sanger sequencing on an ABI 3500 Genetic Analyzer. Mutation frequencies, the prevalence of BRAF ^V600E , and their associations with clinical, radiographic, and histopathological features were evaluated. Results MAPK pathway mutations were identified in 63.5% of cases. BRAF ^V600E was the most frequent alteration, detected in 52.1% (50/96) of tumors. BRAF ^V600E mutations were significantly associated with radiographic radiolucent patterns, and were more common in female than in male patients (p< 0.05). Notably, a novel HRAS mutation, c.22G>A (p.V8M) (HRAS ^V8M ), was identified in this study, which has not been previously reported in ameloblastoma or in mutation databases. Conclusions BRAF and RAS mutations are prevalent in Vietnamese patients with ameloblastoma, with BRAF ^V600E mutation accounting for more than half of the cases. The significant association with BRAF ^V600E with distinct radiographic features and female gender supports its potential value as a biomarker. In addition, the identification of a novel HRAS mutation, warranting the need for further investigation. Trial registration Not applicable Clinical trial number Not applicable