CTNNB1 and APC mutations in odontogenic carcinoma with dentinoid

Abstract

The purpose of the present study is to report 2 cases of odontogenic carcinoma with dentinoid, a rare low-grade odontogenic carcinoma associated with facial deformity and bone loss, and to investigate the presence of pathogenic mutations in these samples. By using a next-generation sequencing approach, we sequenced a panel of 50 oncogenes and tumor suppressor genes commonly mutated in human cancer. Microscopic features of both cases revealed solid areas of malignant odontogenic tumor with a large amount of dentinoid material. We identified pathogenic mutations in the genes CTNNB1 and APC, both of which are part of the Wnt-signaling pathway. Consistent with Wnt-signaling activation, both tumors showed strong β-catenin accumulation in the cytoplasm and in the nuclei. The molecular profile of odontogenic carcinoma with dentinoid may help in its diagnosis, as well as in the identification of potential molecular targets for therapy in the future.