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Adenoid ameloblastoma harbors beta-catenin mutations
by
Bastos, Victor Coutinho
, Thavaraj, Selvam
, Chan, Alexander Chak-Lam
, Gomez, Ricardo Santiago
, Gomes, Carolina Cavaliéri
, Guimarães, Letícia Martins
, Odell, Edward William
, Fernandes, Bianca Gomes
, De Marco, Luiz Armando
, Vargas, Pablo Agustin
, Wright, John M.
, Bastos-Rodrigues, Luciana
, Hellstein, John
, Coura, Bruna Pizziolo
in
14/63
/ 45/23
/ 692/420/755
/ 692/699/67
/ Adenoid
/ Adenoids - metabolism
/ Adenoids - pathology
/ Ameloblastoma
/ Ameloblastoma - genetics
/ Ameloblastoma - pathology
/ beta Catenin - genetics
/ beta Catenin - metabolism
/ Clear cells
/ Epithelium
/ Female
/ Humans
/ Keratinization
/ Laboratory Medicine
/ Male
/ Maxilla
/ Medicine
/ Medicine & Public Health
/ Mutation
/ Odontogenic tumors
/ Odontogenic Tumors - pathology
/ Pathology
/ Proto-Oncogene Proteins B-raf - genetics
/ Proto-Oncogene Proteins p21(ras) - genetics
/ Proto-Oncogene Proteins p21(ras) - metabolism
/ Tumors
/ β-Catenin
2022
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Adenoid ameloblastoma harbors beta-catenin mutations
by
Bastos, Victor Coutinho
, Thavaraj, Selvam
, Chan, Alexander Chak-Lam
, Gomez, Ricardo Santiago
, Gomes, Carolina Cavaliéri
, Guimarães, Letícia Martins
, Odell, Edward William
, Fernandes, Bianca Gomes
, De Marco, Luiz Armando
, Vargas, Pablo Agustin
, Wright, John M.
, Bastos-Rodrigues, Luciana
, Hellstein, John
, Coura, Bruna Pizziolo
in
14/63
/ 45/23
/ 692/420/755
/ 692/699/67
/ Adenoid
/ Adenoids - metabolism
/ Adenoids - pathology
/ Ameloblastoma
/ Ameloblastoma - genetics
/ Ameloblastoma - pathology
/ beta Catenin - genetics
/ beta Catenin - metabolism
/ Clear cells
/ Epithelium
/ Female
/ Humans
/ Keratinization
/ Laboratory Medicine
/ Male
/ Maxilla
/ Medicine
/ Medicine & Public Health
/ Mutation
/ Odontogenic tumors
/ Odontogenic Tumors - pathology
/ Pathology
/ Proto-Oncogene Proteins B-raf - genetics
/ Proto-Oncogene Proteins p21(ras) - genetics
/ Proto-Oncogene Proteins p21(ras) - metabolism
/ Tumors
/ β-Catenin
2022
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Adenoid ameloblastoma harbors beta-catenin mutations
by
Bastos, Victor Coutinho
, Thavaraj, Selvam
, Chan, Alexander Chak-Lam
, Gomez, Ricardo Santiago
, Gomes, Carolina Cavaliéri
, Guimarães, Letícia Martins
, Odell, Edward William
, Fernandes, Bianca Gomes
, De Marco, Luiz Armando
, Vargas, Pablo Agustin
, Wright, John M.
, Bastos-Rodrigues, Luciana
, Hellstein, John
, Coura, Bruna Pizziolo
in
14/63
/ 45/23
/ 692/420/755
/ 692/699/67
/ Adenoid
/ Adenoids - metabolism
/ Adenoids - pathology
/ Ameloblastoma
/ Ameloblastoma - genetics
/ Ameloblastoma - pathology
/ beta Catenin - genetics
/ beta Catenin - metabolism
/ Clear cells
/ Epithelium
/ Female
/ Humans
/ Keratinization
/ Laboratory Medicine
/ Male
/ Maxilla
/ Medicine
/ Medicine & Public Health
/ Mutation
/ Odontogenic tumors
/ Odontogenic Tumors - pathology
/ Pathology
/ Proto-Oncogene Proteins B-raf - genetics
/ Proto-Oncogene Proteins p21(ras) - genetics
/ Proto-Oncogene Proteins p21(ras) - metabolism
/ Tumors
/ β-Catenin
2022
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Journal Article
Adenoid ameloblastoma harbors beta-catenin mutations
2022
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Overview
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.
Publisher
Elsevier Inc,Nature Publishing Group US,Elsevier Limited
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