Ameloblastin gene (AMBN) mutations associated with epithelial odontogenic tumors

Perdigão, Paôlla Freitas; Gomez, Ricardo Santiago; Pimenta, Flávio Juliano; Marco, Luiz

doi:10.1016/j.oraloncology.2004.03.004

Cited by 44 publications

(51 citation statements)

References 29 publications

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“…genetic alterations were already observed in certain odontogenic cysts and tumours (9,10). Although a recent study showed the methylation of tumour suppressor genes in odontogenic keratocysts (oKcs) (11), the expression of DnMts has yet to be investigated in odontogenic tumours.…”

Section: Introductionmentioning

confidence: 99%

DNA methyltransferase expression in odontogenic cysts and tumours

Gomes

Brito²,

Andrade³

et al. 2010

Oncology Letters

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Abstract. epigenetic silencing of gene expression by promoter cpg island hypermethylation is promoted by the enzymes, DnA methyltransferases (DnMts). DnMt3a is mainly involved in de novo methylation, whereas DnMt1 acts mainly as a maintenance methyltransferase. the purpose of this study was to investigate the immunoexpression of DnMt1 and DnMt3a in a set of odontogenic cysts and tumours. Formalin-fixed and paraffin-embedded tissue samples of eight radicular cysts, 10 odontogenic keratocysts (oKc), eight adenomatoid odontogenic tumours (Aot), 16 ameloblastomas and eight samples of normal mucosae were included in the study. The DNMT1 and DNMT3a proteins were identified by using a highly sensitive polymer-based system. We found that the normal oral mucosa, oKc, Aot, radicular cyst and ameloblastomas samples showed a widespread nuclear and cytoplasmic immunopositivity for DnMt1. some radicular cysts, ameloblastomas, Aot and oKc samples presented a positive cytoplasmic reaction for DnMt3a, while negative staining was observed in the normal oral mucosa. nuclear positivity was found only in the suprabasal cell layers of three oKc samples. our study shows an increased expression of DNMT3a in odontogenic cysts and tumours, confirming that epigenetic mechanisms are involved in the development of these tumours.

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Section: Introductionmentioning

confidence: 99%

DNA methyltransferase expression in odontogenic cysts and tumours

Gomes

Brito²,

Andrade³

et al. 2010

Oncology Letters

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“…The AMBN gene expresses a protein that has an important role in the epithelium-mesenchyme signaling during odontogenesis. Mutations in this gene have been identified by capillary electrophoresis in AOTs and ameloblastomas [26]. Both AOT and CEOT cells are descended from epithelial odontogenic cell lineages and, if such neoplastic cells receive appropriate stimuli, they could perhaps give rise to similar ''reprogrammed'' neoplastic daughter cells in either lesion or even any odontogenic tumor of epithelial origin for that matter, as previously shown in other cells and tissues [27][28][29].…”

Section: Discussionmentioning

confidence: 70%

A Combined Epithelial Odontogenic Tumor? A 7-Year Follow-Up Case

Rosa

Soares

Furuse

et al. 2016

Head and Neck Pathol

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Adenomatoid odontogenic tumor (AOT) is a benign epithelial odontogenic tumor characterized by slow and progressive growth. When central lesions are associated with an unerupted permanent tooth, they are also known as the follicular type. Histological variants of AOT may complicate diagnosis with possible adverse effects on treatment and prognosis. The aim of this study is to report a case of a follicular AOT with extensive calcifying epithelial odontogenic tumor (CEOT)-like histopathological areas in the anterior region of the mandible that was treated by enucleation. The teeth displaced by the tumor were repositioned with orthodontic treatment, and after 7 years of follow-up, the bone trabeculae were normal with no evidence of recurrence. The clinical, radiographic and histopathologic aspects of these tumors are discussed and the debate surrounding whether these cases are true combined lesions or histologic variants of the primary tumor is raised.

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“…A number of genetic, molecular and immunohistochemical studies have attempted to elucidate the mechanism involved in the development of SOT. For instance, mutation of the ameloblastin gene has been documented in SOT, as well as in adenomatoid odontogenic tumor and ameloblastoma [49,50]. This gene is located in chromosome 4q21 [49].…”

Section: Discussionmentioning

confidence: 99%

Multicentric Squamous Odontogenic Tumor: A Case Report and Review of the Literature

Elmuradi

Mair

DeSantis

et al. 2016

Head and Neck Pathol

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Squamous odontogenic tumor (SOT) is a rare benign epithelial odontogenic neoplasm of the jaws. Both intraosseous and peripheral SOTs have been described in the English language literature. While most intraosseous SOTs occur as solitary lesions, a multicentric variant has also been previously described. Although the radiographic and microscopic features are identical for both solitary and multicentric clinical presentations, there are three significant differences between them. More specifically, multicentric SOT presents at an earlier age (third decade of life), has a slightly higher male to female ratio than the solitary type and has a marked predilection for African-Americans. Here we document the eighth reported case of multicentric SOT, which was diagnosed in a 43-year-old AfricanAmerican male. In addition, we feature focal sebaceous metaplasia, a heretofore unknown microscopic feature of SOT. Clinical, radiological, and histopathological findings are discussed. The differential diagnosis, biological behavior and management modalities for SOT are also addressed.

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Ameloblastin gene (AMBN) mutations associated with epithelial odontogenic tumors

Cited by 44 publications

References 29 publications

DNA methyltransferase expression in odontogenic cysts and tumours

DNA methyltransferase expression in odontogenic cysts and tumours

A Combined Epithelial Odontogenic Tumor? A 7-Year Follow-Up Case

Multicentric Squamous Odontogenic Tumor: A Case Report and Review of the Literature

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