Prevalence and clinicopathological correlation of BRAF V600E mutations in ameloblastoma: A PCR study from a tertiary centre in South India.

BACKGROUND

Ameloblastoma is a locally aggressive, benign epithelial odontogenic tumor characterized by unpredictable biological behavior and a high recurrence rate. The recent WHO 5th edition classification (2022) has integrated key molecular advances, prominently featuring MAPK pathway mutations such as BRAF V600E. Understanding the prevalence with its clinicopathological associations with BRAF mutations is crucial for prognostication and targeted therapy planning.

OBJECTIVES

To determine the status of BRAF V600E mutation in ameloblastoma cases using quantitative real-time PCR and to correlate mutation status with demographic and clinicopathological parameters over a five-year period from a tertiary care centre.

METHODS

A retrospective cross-sectional study was conducted on 40 cases of histologically confirmed ameloblastoma and 5 samples of normal odontogenic epithelium (control), using archived formalin-fixed paraffin-embedded tissue. Genomic DNA was isolated and subjected to qRT-PCR for BRAF V600E mutation analysis. Associations with age, gender, site, recurrence, and histopathological type were evaluated using chi-square, Fisher's exact, and Student's t-tests.

RESULTS

BRAF V600E mutations were detected in 28 of 40 ameloblastoma cases (70.0 %) and were absent in all control samples. Solid ameloblastoma demonstrated the highest mutation rate (87.5 %), followed by unicystic ameloblastoma (56.5 %), and adenomatoid ameloblastoma (100 %). No cases of peripheral or metastasizing ameloblastoma were observed.

CONCLUSION

BRAF V600E mutation is prevalent in ameloblastoma and varies across histopathological subtypes. Although statistical associations with clinicopathological features were limited, the mutation's high frequency underscores its diagnostic and therapeutic significance in ameloblastoma, justifying routine screening as part of a personalized management approach.