Journal article
Adenoid ameloblastoma harbors beta-catenin mutations
Modern pathology, Vol.35(11), pp.1562-1569
11/2022
DOI: 10.1038/s41379-022-01125-4
PMID: 35840721
Abstract
Adenoid ameloblastoma is a very rare benign epithelial odontogenic tumor characterized microscopically by epithelium resembling conventional ameloblastoma, with additional duct-like structures, epithelial whorls, and cribriform architecture. Dentinoid deposits, clusters of clear cells, and ghost-cell keratinization may also be present. These tumors do not harbor BRAF or KRAS mutations and their molecular basis appears distinct from conventional ameloblastoma but remains unknown. We assessed CTNNB1 (beta-catenin) exon 3 mutations in a cohort of 11 samples of adenoid ameloblastomas from 9 patients. Two of the 9 patients were female and 7 male and in 7/9 patients the tumors occurred in the maxilla. Tumors of 4 of these 9 patients harbored CTNNB1 mutations, specifically p.Ser33Cys, p.Gly34Arg, and p.Ser37Phe. Notably, for one patient 3 samples were analyzed including the primary tumour and two consecutive recurrences, and results were positive for the mutation in all three tumors. Therefore, 6/11 samples tested positive for the mutation. In the 6 mutation-positive samples, ghost cells were present in only 2/6, indicating beta-catenin mutations are not always revealed by ghost cell formation. Dentinoid matrix deposition was observed in 5/6 mutation-positive samples and clear cells in all 6 cases. None of the cases harbored either BRAF or KRAS mutations. Beta-catenin immunoexpression was assessed in the samples of 8 patients. Except for one wild-type case, all cases showed focal nuclear expression irrespective of the mutational status. Together with the absence of BRAF mutation, the detection of beta-catenin mutation in adenoid ameloblastomas supports its classification as a separate entity, and not as a subtype of ameloblastoma. The presence of this mutation may help in the diagnosis of challenging cases.
Details
- Title: Subtitle
- Adenoid ameloblastoma harbors beta-catenin mutations
- Creators
- Victor Coutinho Bastos - Universidade Federal de Minas GeraisBruna Pizziolo Coura - Universidade Federal de Minas GeraisLetícia Martins Guimarães - Universidade Federal de Minas GeraisBianca Gomes Fernandes - Universidade Federal de Minas GeraisAlexander Chak-Lam Chan - Department of Pathology, Queen Elizabeth Hospital, Hong Kong Special Administrative Region, Hong Kong, ChinaPablo Agustin Vargas - Oral Diagnosis Department, Piracicaba Dental School, Universidade de Campinas, Piracicaba, BrazilLuciana Bastos-Rodrigues - Universidade Federal de Minas GeraisLuiz Armando De Marco - Universidade Federal de Minas GeraisJohn Hellstein - University of IowaSelvam Thavaraj - King's College LondonJohn M Wright - Diagnostic Sciences Department, TAMU College of Dentistry, Dallas, TX, USAEdward William Odell - King's College LondonRicardo Santiago Gomez - Universidade Federal de Minas GeraisCarolina Cavaliéri Gomes - Universidade Federal de Minas Gerais
- Resource Type
- Journal article
- Publication Details
- Modern pathology, Vol.35(11), pp.1562-1569
- DOI
- 10.1038/s41379-022-01125-4
- PMID
- 35840721
- ISSN
- 0893-3952
- eISSN
- 1530-0285
- Grant note
- DOI: 10.13039/501100004901, name: Fundação de Amparo à Pesquisa do Estado de Minas Gerais, award: REDE 0019-16, REDE 0019-16, REDE 0019-16, REDE 0019-16, PPM-00022-17
- Language
- English
- Date published
- 11/2022
- Academic Unit
- Oral Pathology, Radiology and Medicine
- Record Identifier
- 9984367630202771
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