Clinical and Histopathological Manifestations of Odontogenic Tumors and Recent Advancement for Genetic Characteristics of Ameloblastoma and Odontogenic Keratocyst

Odontogenic tumors are neoplasms that develop in the jawbone and are derived from cells involved in odontogenesis. Most odontogenic tumors are benign neoplasms, but some lesions are locally invasive and likely to recur. Odontogenic tumors are diagnosed by clinical, imaging and histopathological findings, but these vary and it can be difficult to make a definitive diagnosis. Advances in genetics and molecular biology have led to identification of genetic abnormalities involved in development and progression of odontogenic tumors, and may be useful for diagnosis. Clinically, identification of molecules related to tumorigenesis and cell differentiation in odontogenic tumors may improve the accuracy of diagnosis. Next-generation sequencing (NGS) of whole exons of SMO, BRAF, PTCH1 and GNAS genes in patients with odontogenic diseases is useful for differential diagnosis and tumor identification in odontogenic diseases. In fact, we detected several mutations in odontogenic tumors as well as in odontogenic cysts histopathologically. We would like to propose that diagnosis of odontogenic tumors may require a combination of histopathology and genetic mutation analysis.