DNA rare copy number alterations in Reinke's Edema

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Autor(es): dc.contributorFaculdade de Ciências Médicas da Santa Casa de São Paulo-
Autor(es): dc.contributorSão Camilo Oncologia-
Autor(es): dc.contributorUniversidade Estadual Paulista (UNESP)-
Autor(es): dc.contributorLaboratory of Molecular Physiology-
Autor(es): dc.contributorUniversidade de Brasília (UnB)-
Autor(es): dc.contributorUniversity Hospital of Southern Denmark-
Autor(es): dc.contributorInstitute of Regional Health Research-
Autor(es): dc.creatorMóz, Luis Eduardo Silva-
Autor(es): dc.creatorMartins, Regina Helena Garcia-
Autor(es): dc.creatorLapa, Rainer Marco Lopez-
Autor(es): dc.creatorVillacis, Rolando André Rios-
Autor(es): dc.creatordos Reis, Patricia Pintor-
Autor(es): dc.creatorRogatto, Silvia Regina-
Data de aceite: dc.date.accessioned2025-08-21T18:26:49Z-
Data de disponibilização: dc.date.available2025-08-21T18:26:49Z-
Data de envio: dc.date.issued2023-07-29-
Data de envio: dc.date.issued2023-07-29-
Data de envio: dc.date.issued2023-03-01-
Fonte completa do material: dc.identifierhttp://dx.doi.org/10.1016/j.bjorl.2022.09.002-
Fonte completa do material: dc.identifierhttp://hdl.handle.net/11449/247741-
Fonte: dc.identifier.urihttp://educapes.capes.gov.br/handle/11449/247741-
Descrição: dc.descriptionIntroduction: Reinke's Edema (RE) is a laryngeal lesion related to excessive tobacco smoking, voice overuse, and laryngopharyngeal reflux. Although the risk of malignancy has been considered low in literature, RE is classified among precancerous lesions. Objectives: We investigated DNA Copy Number Alterations (CNAs) in specimens of RE and its potential association with malignant progression. Methods: We used array-based comparative genomic hybridization (aCGH, Agilent 4 × 180 K platform) to study eight RE cases. All patients were heavy tobacco users for at least 30 years, and none of them progressed to cancer in the follow-up (>8 years). Two RE presented mild dysplasia, one moderate dysplasia, and no histological alterations were found in the remaining five cases. CNAs were compared with the Database of Genomic Variants (DGV) and genes mapped on altered regions had their functions annotated. Results: Six of eight patients showed different rare copy number alterations on chromosomes 2q37.3, 4q13.1, 4q13.3, 7q11.22, 10p14, and 13q34. A gain of the whole chromosome 8 were detected in one case. Of interest, four of eight RE cases showed copy number imbalances involving genes previously described in several tumor types (RASA3, COL6A3, LINC00707, LINP1, SMR3A, and SMR3B). Conclusion: The genomic imbalances herein found in RE have the potential to contribute to the phenotype but with limited or no risk of cancer. A long-term follow-up in a large series of patients could clarify the mechanisms involved in the malignant progression of RE. Level of evidence: 4.-
Descrição: dc.descriptionFaculdade de Ciências Médicas da Santa Casa de São Paulo, SP-
Descrição: dc.descriptionSão Camilo Oncologia-
Descrição: dc.descriptionUniversidade Estadual Paulista (UNESP) Faculdade de Medicina Departamento de Especialidades Cirúrgicas e Anestesiologia, SP-
Descrição: dc.descriptionNational University Toribio Rodríguez de Mendoza of Amazonas Institute of Livestock and Biotechnology Laboratory of Molecular Physiology-
Descrição: dc.descriptionUniversidade de Brasília (UnB) Instituto de Ciências Biológicas Departamento de Genética e Morfologia, DF-
Descrição: dc.descriptionUniversidade Estadual Paulista (UNESP) Faculdade de Medicina Departamento de Cirurgia e Ortopedia, SP-
Descrição: dc.descriptionUniversity Hospital of Southern Denmark Department of Clinical Genetics-
Descrição: dc.descriptionUniversity of Southern Denmark Institute of Regional Health Research-
Descrição: dc.descriptionUniversidade Estadual Paulista (UNESP) Faculdade de Medicina Departamento de Especialidades Cirúrgicas e Anestesiologia, SP-
Descrição: dc.descriptionUniversidade Estadual Paulista (UNESP) Faculdade de Medicina Departamento de Cirurgia e Ortopedia, SP-
Formato: dc.format279-284-
Idioma: dc.languageen-
Relação: dc.relationBrazilian Journal of Otorhinolaryngology-
???dc.source???: dc.sourceScopus-
Palavras-chave: dc.subjectDNA copy number variations-
Palavras-chave: dc.subjectGenomic medicine-
Palavras-chave: dc.subjectLaryngeal edema-
Palavras-chave: dc.subjectMicroarray analysis-
Palavras-chave: dc.subjectPreneoplastic condition-
Título: dc.titleDNA rare copy number alterations in Reinke's Edema-
Tipo de arquivo: dc.typelivro digital-
Aparece nas coleções:Repositório Institucional - Unesp

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