Identification of Recurrent SMO and BRAF Mutations in Ameloblastomas

RNA-seq data from two cases of ameloblastoma was analyzed for candidate gene fusions and point mutations. Recurrent point mutations identified in the RNA-seq data, as well as mutations identified with limited panel targeted deep sequencing, were validated as somatic. Expanding to a larger cohort of 28, one of two activating mutations was found in 80% of cases. No recurrent gene fusions events were identified.]]> Cases of ameloblastoma were selected from the pathology archives. The diagnosis was confirmed. Exclusion criteria was documentation that the material had been subjected to decalcification for tissue processing because the decalcification solution severely degrades nucleic acids.]]>