DNA rare copy number alterations in Reinke's Edema
Autor(a) principal: | |
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Data de Publicação: | 2023 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNESP |
Texto Completo: | http://dx.doi.org/10.1016/j.bjorl.2022.09.002 http://hdl.handle.net/11449/247741 |
Resumo: | Introduction: 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. |
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DNA rare copy number alterations in Reinke's EdemaDNA copy number variationsGenomic medicineLaryngeal edemaMicroarray analysisPreneoplastic conditionIntroduction: 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.Faculdade de Ciências Médicas da Santa Casa de São Paulo, SPSão Camilo OncologiaUniversidade Estadual Paulista (UNESP) Faculdade de Medicina Departamento de Especialidades Cirúrgicas e Anestesiologia, SPNational University Toribio Rodríguez de Mendoza of Amazonas Institute of Livestock and Biotechnology Laboratory of Molecular PhysiologyUniversidade de Brasília (UnB) Instituto de Ciências Biológicas Departamento de Genética e Morfologia, DFUniversidade Estadual Paulista (UNESP) Faculdade de Medicina Departamento de Cirurgia e Ortopedia, SPUniversity Hospital of Southern Denmark Department of Clinical GeneticsUniversity of Southern Denmark Institute of Regional Health ResearchUniversidade Estadual Paulista (UNESP) Faculdade de Medicina Departamento de Especialidades Cirúrgicas e Anestesiologia, SPUniversidade Estadual Paulista (UNESP) Faculdade de Medicina Departamento de Cirurgia e Ortopedia, SPFaculdade de Ciências Médicas da Santa Casa de São PauloSão Camilo OncologiaUniversidade Estadual Paulista (UNESP)Laboratory of Molecular PhysiologyUniversidade de Brasília (UnB)University Hospital of Southern DenmarkInstitute of Regional Health ResearchMóz, Luis Eduardo SilvaMartins, Regina Helena Garcia [UNESP]Lapa, Rainer Marco LopezVillacis, Rolando André Riosdos Reis, Patricia Pintor [UNESP]Rogatto, Silvia Regina2023-07-29T13:24:33Z2023-07-29T13:24:33Z2023-03-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article279-284http://dx.doi.org/10.1016/j.bjorl.2022.09.002Brazilian Journal of Otorhinolaryngology, v. 89, n. 2, p. 279-284, 2023.1808-86861808-8694http://hdl.handle.net/11449/24774110.1016/j.bjorl.2022.09.0022-s2.0-85139849162Scopusreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengBrazilian Journal of Otorhinolaryngologyinfo:eu-repo/semantics/openAccess2024-08-14T14:18:54Zoai:repositorio.unesp.br:11449/247741Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-14T14:18:54Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false |
dc.title.none.fl_str_mv |
DNA rare copy number alterations in Reinke's Edema |
title |
DNA rare copy number alterations in Reinke's Edema |
spellingShingle |
DNA rare copy number alterations in Reinke's Edema Móz, Luis Eduardo Silva DNA copy number variations Genomic medicine Laryngeal edema Microarray analysis Preneoplastic condition |
title_short |
DNA rare copy number alterations in Reinke's Edema |
title_full |
DNA rare copy number alterations in Reinke's Edema |
title_fullStr |
DNA rare copy number alterations in Reinke's Edema |
title_full_unstemmed |
DNA rare copy number alterations in Reinke's Edema |
title_sort |
DNA rare copy number alterations in Reinke's Edema |
author |
Móz, Luis Eduardo Silva |
author_facet |
Móz, Luis Eduardo Silva Martins, Regina Helena Garcia [UNESP] Lapa, Rainer Marco Lopez Villacis, Rolando André Rios dos Reis, Patricia Pintor [UNESP] Rogatto, Silvia Regina |
author_role |
author |
author2 |
Martins, Regina Helena Garcia [UNESP] Lapa, Rainer Marco Lopez Villacis, Rolando André Rios dos Reis, Patricia Pintor [UNESP] Rogatto, Silvia Regina |
author2_role |
author author author author author |
dc.contributor.none.fl_str_mv |
Faculdade de Ciências Médicas da Santa Casa de São Paulo São Camilo Oncologia Universidade Estadual Paulista (UNESP) Laboratory of Molecular Physiology Universidade de Brasília (UnB) University Hospital of Southern Denmark Institute of Regional Health Research |
dc.contributor.author.fl_str_mv |
Móz, Luis Eduardo Silva Martins, Regina Helena Garcia [UNESP] Lapa, Rainer Marco Lopez Villacis, Rolando André Rios dos Reis, Patricia Pintor [UNESP] Rogatto, Silvia Regina |
dc.subject.por.fl_str_mv |
DNA copy number variations Genomic medicine Laryngeal edema Microarray analysis Preneoplastic condition |
topic |
DNA copy number variations Genomic medicine Laryngeal edema Microarray analysis Preneoplastic condition |
description |
Introduction: 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. |
publishDate |
2023 |
dc.date.none.fl_str_mv |
2023-07-29T13:24:33Z 2023-07-29T13:24:33Z 2023-03-01 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://dx.doi.org/10.1016/j.bjorl.2022.09.002 Brazilian Journal of Otorhinolaryngology, v. 89, n. 2, p. 279-284, 2023. 1808-8686 1808-8694 http://hdl.handle.net/11449/247741 10.1016/j.bjorl.2022.09.002 2-s2.0-85139849162 |
url |
http://dx.doi.org/10.1016/j.bjorl.2022.09.002 http://hdl.handle.net/11449/247741 |
identifier_str_mv |
Brazilian Journal of Otorhinolaryngology, v. 89, n. 2, p. 279-284, 2023. 1808-8686 1808-8694 10.1016/j.bjorl.2022.09.002 2-s2.0-85139849162 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Brazilian Journal of Otorhinolaryngology |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
279-284 |
dc.source.none.fl_str_mv |
Scopus reponame:Repositório Institucional da UNESP instname:Universidade Estadual Paulista (UNESP) instacron:UNESP |
instname_str |
Universidade Estadual Paulista (UNESP) |
instacron_str |
UNESP |
institution |
UNESP |
reponame_str |
Repositório Institucional da UNESP |
collection |
Repositório Institucional da UNESP |
repository.name.fl_str_mv |
Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP) |
repository.mail.fl_str_mv |
|
_version_ |
1808128147415105536 |