Genetic study of the BRAF gene reveals a new variants and high frequency of the V600E mutation among Iranian ameloblastoma patients

Abstract

Background

Ameloblastoma is a benign, slow-growing, locally invasive tumor. It is one of the most prevalent odontogenic tumors, with an incidence rate of 1% of all oral tumors and approximately 18% of odontogenic tumors. A group of genes has been investigated in patients with ameloblastoma. The BRAF V600E mutation has been implicated as the most common mutation in ameloblastoma. The presence or absence of this mutation has been associated with several clinopathological properties, including location, age at diagnosis, histology, and prognosis. Although some populations have been investigated so far, little data are available on the Iranian population. The current research was launched to study the BRAF V600E mutation among a cohort of Iranian patients with ameloblastoma.

Methods

In this clinopathological and molecular biologic study, a total of 19 formalin-fixed, paraffin-embedded tissues were studied. DNA extraction was performed, followed by PCR-sequencing of exons 10 and 15 of the BRAF gene to identify mutations. In silico analysis was done for the identified variants. Results were analyzed by T-test, Chi-square, and Fisher's exact test.

Results

Totally, 12 out of 19 samples (63%) harbored the p. V600E hotspot mutation. In addition, we identified several variants, two of which were novel. The c.1769T>G (p. V590G) and c.1751C>T (p.L584F) as the novel variants showed a possible damaging effect by in silico analysis. No variant was found within exon 10.

Conclusions

Our study confirms the role of BRAF mutations in ameloblastoma in the Iranian patients studied.

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