Molecular genetics and epigenetics of ameloblastoma

Ameloblastoma is an odontogenic tumor with characteristics of local aggressiveness, potentially aggressive, high recurrences and morbidity compared to other odontogenic tumors. These characteristics have been related to the treatment modality, especially with surgical approach. The discovery of molecular genetics and epigenetics of ameloblastoma shed new insights into new treatment approach, which is therapeutic targeting. This paper will review recent discovery of the molecular genetics, including mutations in MAPK pathway and SHH pathway, and epigenetics of ameloblastoma. Ameloblastoma is an uncommon and has a characteristic of its locally invasiveness located in the maxilla and/or mandible [1]. It is believed to come from dental lamina and enamel organ, which are part of epithelial cells of developing tooth [2]. Among other odontogenic tumor, Ameloblastoma is the most important subtype because of its local aggressiveness, potentially aggressive, and its high risk of recurrences and morbidity [3]. Depending on the treatment modality, the recurrence is up to 70% [4]. There is equal incidence between gender, men and women, and commonly diagnosed at 36 years on average. Most cases occur in the posterior maxilla (up to 80%) [1]. Up to 2% of cases have a potential to become malignant and metastasizing, they are classified as metastasizing ameloblastoma [1,4]. Patient with a small ameloblastoma may not feel any symptom, while bigger one may give a notable expansion of the jaw. It may also cause a root resorption. Ameloblastoma is seen as radiolucency in the jaw with a form of unilocular or multilocular, radiographically. It is sometimes related to an unerupted tooth, seen as a radiolucency on the crown surroundings [5]. World Health Organization classified ameloblastomas to several sub¬types based on the location and histopathology, namely solid or multicytic (91%), unicystic (6%), extra-osseous (2%), and desmoplastic (1%) [1]. However, In the 4th edition of WHO Classification of Head and Neck Tumors 2017, Ameloblastomas are only classified into two, namely unicystic and extraosseous/peripheral types.6Based on several studies of ameloblastoma, it is found numerous mutations with different prevalence [1,7-11]. In this literature review, we sought to describe the mutations and also the epigenetic mechanism related to ameloblastoma.