Genetic Study of V600E and L412F Mutations in Japanese Patients with Ameloblastoma.

. Ameloblastoma is a benign, intraosseous, progressively growing, epithelial, odontogenic neoplasm. and mutations have been reported in ameloblastoma. In this study, we evaluated V600E and L412F mutations; and assessed the relationship between V600E mutant expression and the clinicopathological features in Japanese patients with ameloblastoma. . We examined 24 formalin-fixed paraffin-embedded samples. All specimens were from patients with mandibular ameloblastoma: 20 were conventional ameloblastoma and 4 were unicystic ameloblastoma. The V600E mutation was assessed by Sanger sequencing and immunohistochemistry, and the L412F mutation was assessed only by Sanger sequencing. . Twenty of the 24 (83%) ameloblastoma samples carried the V600E mutation; 22 of the 24 (92%) samples were immunohistochemically positive for BRAF V600E. However, the L412F mutation was not detected in any of them. The V600E mutation status did not correlate with the clinicopathological features, such as age, sex, location, method, recurrence, and subtype. . BRAF inhibitors could be a potential treatment option for Japanese patients with ameloblastoma, harboring the V600E mutation.