Aberrant β-catenin expression and adenomatous polyposis coli gene mutation in ameloblastoma and odontogenic carcinoma

SummaryThe Wnt pathway is involved in carcinogenesis and three regulatory genes of the Wnt pathway, APC (adenomatous polyposis coli), β-catenin and Axin are frequently mutated in some primary human cancers. This study was conducted to clarify the relation of β-catenin accumulation and the mutation of the CTNNB1 (β-catenin) gene with the mutation of APC gene in the process of development of odontogenic tumors including ameloblastoma and odontogenic carcinoma (OC). β-Catenin accumulation was examined by immunohistochemistry in formalin-fixed, paraffin-embedded samples of six ameloblastomas and eight OCs. We also performed a mutation analysis of CTNNB1 and APC to examine the cause of β-catenin accumulation. All ameloblastoma cases and six out of eight (75%) OC cases exhibited β-catenin accumulation in the nucleus. CTNNB1 mutation was only found in one OC case, whereas three of six (50%) ameloblastoma cases and two out of eight (25%) OC cases had APC mutations within the mutational cluster region. Our findings suggest that aberrant β-catenin expression and APC missense mutation may play an important role for the pathogenesis of epithelial odontogenic tumors.