Ameloblastin gene ( AMBN) mutations associated with epithelial odontogenic tumors

• Published in: Oral oncology Vol. 40; no. 8; pp. 841 - 846
• Main Authors: Perdigão, P.F, Gomez, R.S, Pimenta, F.J.G.S, De Marco, L
• Format: Journal Article
• Language: English
• Published: Oxford Elsevier Ltd 01.09.2004; Elsevier
• Subjects: AMBN; Ameloblastin; Ameloblastoma; Ameloblastoma - genetics; Ameloblastoma - pathology; Base Sequence; Biological and medical sciences; Dental Enamel Proteins - genetics; Epithelial Cells - pathology; Epithelial odontogenic tumors; Exons - genetics; Facial bones, jaws, teeth, parodontium: diseases, semeiology; Humans; Medical sciences; Molecular Sequence Data; Mouth Mucosa - pathology; Mouth Neoplasms - genetics; Mouth Neoplasms - pathology; Mutation; Odontogenic Tumors - genetics; Odontogenic Tumors - pathology; Otorhinolaryngology. Stomatology; Tumors; Ameloblastin; Ameloblastoma; Epithelial odontogenic tumors; AMBN; Human; Stomatology; Diseases of the osteoarticular system; Malignant tumor; Adamantinoma; Cancerology; Odontogenic tumor; Gene; Mutation; Maxillary disease
• ISSN: 1368-8375; 1879-0593
• DOI: 10.1016/j.oraloncology.2004.03.004

Ameloblastin ( AMBN, MIM ∗601259) gene expresses an important protein (AMBN), present in the organic matrix of enamel. The AMBN protein has an important role in the differentiation of ameloblast cells and epithelium-mesenchyme signaling during odontogenesis which prompted us to investigate this gene in aggressive epithelial odontogenic tumors, such as ameloblastomas, and in some non-aggressive ones, such as the adenomatoid odontogenic tumor and the squamous odontogenic tumor. Six cases of epithelial odontogenic tumors were studied and normal cells of the patient's mucosa were used as negative controls. The results demonstrated novel mutations in all tumors, while mucosal cells showed the wild type DNA sequence. Our data demonstrates that AMBN gene has an important role in the tumorigenesis of subtypes of epithelial odontogenic tumors and that this phenotypic heterogeneity could be caused by genetic heterogeneity.