Ameloblastin gene ( AMBN) mutations associated with epithelial odontogenic tumors

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...

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Bibliographic Details
Published in:Oral oncology 2004-09, Vol.40 (8), p.841-846
Main Authors: Perdigão, P.F, Gomez, R.S, Pimenta, F.J.G.S, De Marco, L
Format: Article
Language:English
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
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Summary: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.
ISSN:1368-8375
1879-0593
DOI:10.1016/j.oraloncology.2004.03.004