Rare copy number alterations and copy-neutral loss of heterozygosity revealed in ameloblastomas by high-density whole-genome microarray analysis

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dc.creatorMarina Gonçalves Diniz
dc.creatorAlessandra Pires Carceroni Duarte
dc.creatorRolando André Rios Villacis
dc.creatorBruna Viana Antonini Guimarães
dc.creatorLuiz Cláudio Pires Duarte
dc.creatorSílvia Regina Rogatto
dc.creatorRicardo Santiago Gomez
dc.creatorCarolina Cavaliéri Gomes
dc.date.accessioned2025-06-30T19:37:34Z
dc.date.accessioned2025-09-09T00:28:42Z
dc.date.available2025-06-30T19:37:34Z
dc.date.issued2017-05
dc.description.sponsorshipCNPq - Conselho Nacional de Desenvolvimento Científico e Tecnológico
dc.description.sponsorshipFAPEMIG - Fundação de Amparo à Pesquisa do Estado de Minas Gerais
dc.format.mimetypepdf
dc.identifier.doihttps://doi.org/10.1111/jop.12505
dc.identifier.issn1600-0714
dc.identifier.urihttps://hdl.handle.net/1843/83229
dc.languageeng
dc.publisherUniversidade Federal de Minas Gerais
dc.relation.ispartofJournal of Oral Pathology & Medicine
dc.rightsAcesso Restrito
dc.subjectAmeloblastoma
dc.subjectOdontogenic tumors
dc.subjectMutation
dc.subjectGenes
dc.subjectGene expression
dc.subjectMitogen-Activated Protein Kinases
dc.subjectFibrosarcoma
dc.subjectGenome
dc.subjectNeoplasms
dc.subjectLoss of heterozygosity
dc.subject.otherAmeloblastic carcinoma
dc.subject.otherAmeloblastoma
dc.subject.otherWhole-genome microarray
dc.subject.otherOdontogenic tumor
dc.titleRare copy number alterations and copy-neutral loss of heterozygosity revealed in ameloblastomas by high-density whole-genome microarray analysis
dc.typeArtigo de periódico
local.citation.epage376
local.citation.issue5
local.citation.spage371
local.citation.volume46
local.description.resumoBackground: Ameloblastoma (unicystic, UA, or multicystic, MA) is a rare tumor associated with bone destruction and facial deformity. Its malignant counterpart is the ameloblastic carcinoma (AC). The BRAFV600E mutation is highly prevalent in all these tumors subtypes and cannot account for their different clinical behaviors. Methods: We assessed copy number alterations (CNAs) and copy-neutral loss of heterozygosity (cnLOH) in UA (n = 2), MA (n = 3), and AC (n = 1) using the CytoScan HD Array (Affymetrix) and the BRAFV600E status. RT-qPCR was applied in four selected genes (B4GALT1, BAG1, PKD1L2, and PPP2R5A) covered by rare alterations, also including three MA and four normal oral tissues. Results: Fifty-seven CNAs and cnLOH were observed in the ameloblastomas and six CNAs in the AC. Seven of the CNAs were rare (six in UA and one in MA), four of them encompassing genes (gains of 7q11.21, 1q32.3, and 9p21.1 and loss of 16q23.2). We found positive correlation between rare CNA gene dosage and the expression of B4GALT1, BAG1, PKD1L2, and PPP2R5A. The AC and 1 UA were BRAF wild-type; however, this UA showed rare genomic alterations encompassing genes associated with RAF/MAPK activation. Conclusion: Ameloblastomas show rare CNAs and cnLOH, presenting a specific genomic profile with no overlapping of the rare alterations among UA, MA, and AC. These genomic changes might play a role in tumor evolution and in BRAFV600E-negative tumors.
local.identifier.orcidhttps://orcid.org/0000-0002-4212-1172
local.identifier.orcidhttps://orcid.org/0000-0003-3851-2696
local.identifier.orcidhttps://orcid.org/0000-0003-4637-5687
local.identifier.orcidhttps://orcid.org/0000-0001-8770-8009
local.identifier.orcidhttps://orcid.org/0000-0003-1580-4995
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.12505

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