BRAFV600E mutation in the diagnosis of unicystic ameloblastoma

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dc.creatorNubia Braga Pereira
dc.creatorKaruza Maria Alves Pereira
dc.creatorBruna Pizziolo Coura
dc.creatorMarina Gonçalves Diniz
dc.creatorWagner Henriques de Castro
dc.creatorCarolina Cavalieri Gomes
dc.creatorRicardo Santiago Gomez
dc.date.accessioned2025-05-23T19:27:48Z
dc.date.accessioned2025-09-09T01:25:23Z
dc.date.available2025-05-23T19:27:48Z
dc.date.issued2016-11
dc.description.sponsorshipCNPq - Conselho Nacional de Desenvolvimento Científico e Tecnológico
dc.description.sponsorshipFAPEMIG - Fundação de Amparo à Pesquisa do Estado de Minas Gerais
dc.description.sponsorshipCAPES - Coordenação de Aperfeiçoamento de Pessoal de Nível Superior
dc.format.mimetypepdf
dc.identifier.doihttps://doi.org/10.1111/jop.12443
dc.identifier.issn1600-0714
dc.identifier.urihttps://hdl.handle.net/1843/82484
dc.languageeng
dc.publisherUniversidade Federal de Minas Gerais
dc.relation.ispartofJournal of oral pathology and medicine
dc.rightsAcesso Restrito
dc.subjectAmeloblastoma
dc.subjectDentigerous cyst
dc.subjectOdontogenic tumors
dc.subjectRadicular cyst
dc.subjectColor
dc.subjectMutation
dc.subjectGenes
dc.subjectImmunohistochemistry
dc.subject.otherBRAF V600E mutation
dc.subject.otherAmeloblastoma
dc.subject.otherDentigerous cyst
dc.subject.otherOdontogenic tumors
dc.subject.otherRadicular cyst
dc.titleBRAFV600E mutation in the diagnosis of unicystic ameloblastoma
dc.typeArtigo de periódico
local.citation.epage785
local.citation.issue10
local.citation.spage780
local.citation.volume45
local.description.resumoBackground: Unicystic ameloblastoma, an odontogenic neoplasm, presents clinical and radiographic similarities with dentigerous and radicular cysts, non-neoplastic lesions. It is not always possible to reach a final diagnosis with the incisional biopsy, leading to inappropriate treatment. The BRAFV600E activating mutation has been reported in a high proportion of ameloblastomas. The purpose of the study was to assess the utility of the detection of the BRAFV600E mutation in the differential diagnosis of unicystic ameloblastoma with dentigerous and radicular cysts. Methods: Twenty-six archival samples were included, comprising eight unicystic ameloblastomas (UAs), nine dentigerous and nine radicular cysts. The mutation was assessed in all samples by anti-BRAFV600E (clone VE1) immunohistochemistry (IHC) and by TaqMan mutation detection qPCR assay. Sanger sequencing was further carried out when samples showed conflicting results in the IHC and qPCR. Results: Although all UAs (8/8) showed positive uniform BRAFV600E staining along the epithelial lining length, the mutation was not confirmed by qPCR and Sanger sequencing in three samples. Positive staining for the BRAFV600E protein was observed in one dentigerous cyst, but it was not confirmed by the molecular methods. Furthermore, 2/9 dentigerous cysts and 2/9 radicular cysts showed non-specific immunostaining of the epithelium or plasma cells. None of the dentigerous or radicular cysts cases presented the BRAFV600E mutation in the qPCR assay. Conclusions: The BRAFV600E antibody (clone VE1) IHC may show non-specific staining, but molecular assays may be useful for the diagnosis of unicystic ameloblastoma, in conjunction with clinical, radiological and histopathological features.
local.identifier.orcidhttps://orcid.org/0000-0002-6714-3124
local.identifier.orcidhttps://orcid.org/0000-0002-2880-6466
local.identifier.orcidhttps://orcid.org/0000-0002-9987-5311
local.identifier.orcidhttps://orcid.org/0000-0002-4212-1172
local.identifier.orcidhttps://orcid.org/0000-0003-2745-2878
local.identifier.orcidhttps://orcid.org/0000-0003-1580-4995
local.identifier.orcidhttps://orcid.org/0000-0001-8770-8009
local.publisher.countryBrasil
local.publisher.departmentFAO - DEPARTAMENTO DE CLÍNICA
local.publisher.departmentICB - DEPARTAMENTO DE MORFOLOGIA
local.publisher.departmentICB - DEPARTAMENTO DE PATOLOGIA
local.publisher.initialsUFMG
local.url.externahttps://onlinelibrary.wiley.com/doi/10.1111/jop.12443

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