DNA rare copy number alterations in Reinke's Edema

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dc.contributor.authorMóz, Luis Eduardo Silva
dc.contributor.authorMartins, Regina Helena Garcia [UNESP]
dc.contributor.authorLapa, Rainer Marco Lopez
dc.contributor.authorVillacis, Rolando André Rios
dc.contributor.authordos Reis, Patricia Pintor [UNESP]
dc.contributor.authorRogatto, Silvia Regina
dc.contributor.institutionFaculdade de Ciências Médicas da Santa Casa de São Paulo
dc.contributor.institutionSão Camilo Oncologia
dc.contributor.institutionUniversidade Estadual Paulista (UNESP)
dc.contributor.institutionLaboratory of Molecular Physiology
dc.contributor.institutionUniversidade de Brasília (UnB)
dc.contributor.institutionUniversity Hospital of Southern Denmark
dc.contributor.institutionInstitute of Regional Health Research
dc.date.accessioned2023-07-29T13:24:33Z
dc.date.available2023-07-29T13:24:33Z
dc.date.issued2023-03-01
dc.description.abstractIntroduction: 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.en
dc.description.affiliationFaculdade de Ciências Médicas da Santa Casa de São Paulo, SP
dc.description.affiliationSão Camilo Oncologia
dc.description.affiliationUniversidade Estadual Paulista (UNESP) Faculdade de Medicina Departamento de Especialidades Cirúrgicas e Anestesiologia, SP
dc.description.affiliationNational University Toribio Rodríguez de Mendoza of Amazonas Institute of Livestock and Biotechnology Laboratory of Molecular Physiology
dc.description.affiliationUniversidade de Brasília (UnB) Instituto de Ciências Biológicas Departamento de Genética e Morfologia, DF
dc.description.affiliationUniversidade Estadual Paulista (UNESP) Faculdade de Medicina Departamento de Cirurgia e Ortopedia, SP
dc.description.affiliationUniversity Hospital of Southern Denmark Department of Clinical Genetics
dc.description.affiliationUniversity of Southern Denmark Institute of Regional Health Research
dc.description.affiliationUnespUniversidade Estadual Paulista (UNESP) Faculdade de Medicina Departamento de Especialidades Cirúrgicas e Anestesiologia, SP
dc.description.affiliationUnespUniversidade Estadual Paulista (UNESP) Faculdade de Medicina Departamento de Cirurgia e Ortopedia, SP
dc.format.extent279-284
dc.identifierhttp://dx.doi.org/10.1016/j.bjorl.2022.09.002
dc.identifier.citationBrazilian Journal of Otorhinolaryngology, v. 89, n. 2, p. 279-284, 2023.
dc.identifier.doi10.1016/j.bjorl.2022.09.002
dc.identifier.issn1808-8686
dc.identifier.issn1808-8694
dc.identifier.scopus2-s2.0-85139849162
dc.identifier.urihttp://hdl.handle.net/11449/247741
dc.language.isoeng
dc.relation.ispartofBrazilian Journal of Otorhinolaryngology
dc.sourceScopus
dc.subjectDNA copy number variations
dc.subjectGenomic medicine
dc.subjectLaryngeal edema
dc.subjectMicroarray analysis
dc.subjectPreneoplastic condition
dc.titleDNA rare copy number alterations in Reinke's Edemaen
dc.typeArtigo
unesp.author.orcid0000-0001-9402-7682 0000-0001-9402-7682[1]
unesp.author.orcid0000-0003-0772-1962[2]
unesp.author.orcid0000-0002-2879-5138[3]
unesp.author.orcid0000-0003-3851-2696[4]
unesp.author.orcid0000-0003-3775-3797[5]
unesp.author.orcid0000-0003-4637-5687 0000-0003-4637-5687[6]

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Artigos - Anestesiologia - FMB
Artigos - Cirurgia e Ortopedia - FMB