Ameloblastoma is an odontogenic tumor of the jaw. It most frequently occurs in the mandible, and less often in the maxilla. Mandibular ameloblastoma harbors a BRAF mutation that causes a valine (V) to glutamic acid (E) substitution at codon 600 (BRAF(V600E) ). We examined specimens from 32 Japanese patients to detect the prevalence of the BRAF(V600E) mutation, and to evaluate the relationship between immunohistochemical (IHC) expression and genetic results, of BRAF(V600E+) ameloblastoma. Among the 32 cases, 22 (69%) were IHC positive for BRAF(V600E) protein, and 10 (31%) were IHC negative; and polymerase chain reaction showed 16 of 21 tested cases (76%) carried the BRAF(V600E) mutation. Our findings indicate that that samples that stain IHC positive for BRAF(V600E) protein are more likely to carry the BRAF(V600E) mutation. These results support assessments for BRAF mutations, and the use of BRAF inhibitors as targeted therapy for ameloblastoma in Japanese patients.
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