Affiliation:
1. Unit of Oral and Maxillofacial Medicine, Pathology and Surgery University of Sheffield Sheffield UK
2. Facultad de Odontología y Ciencias de la Rehabilitación Universidad San Sebastián Puerto Montt Chile
3. Department of Neuroscience Sheffield Institute for Translational Neuroscience, University of Sheffield Sheffield UK
4. Liverpool Head and Neck Centre, Molecular and Clinical Cancer Medicine University of Liverpool Liverpool UK
Abstract
AbstractAmeloblastoma (AM) is a benign, although aggressive, epithelial odontogenic tumour originating from tooth‐forming tissues or remnants. Its aetiopathogenesis remains unclear; however, molecular analysis techniques have allowed researchers to progress in understanding its genetic basis. The high frequency of BRAF p.V600E as a main driver mutation in AM is well established; nevertheless, it is insufficient to explain its tumourigenesis. In this review, we aimed to integrate the current knowledge about the biology of AM and to describe the main genetic alterations reported, focusing on the findings of large‐scale sequencing and gene expression profiling techniques. Current evidence shows that besides BRAF mutation and activation of the MAPK pathway, alterations in Hedgehog and Wnt/β‐catenin pathway‐related genes are also involved in AM pathogenesis. Recently, a tumour suppressor gene, KMT2D, has been reported as mutated by different research groups. The biological impact of these mutations in the pathogenesis of AM has yet to be elucidated. Further studies are needed to clarify the impact of these findings in the identification of novel biomarkers that could be useful for diagnosing, classifying, and molecular targeting this neoplasm.
Funder
Agencia Nacional de Investigación y Desarrollo