Evidence map›Paper›PMID 36243603›Full record

ArticleBrazilian journal of otorhinolaryngology

DNA rare copy number alterations in Reinke's Edema.

Luis Eduardo Silva Móz, Regina Helena Garcia Martins, Rainer Marco Lopez Lapa, Rolando André Rios Villacis, Patricia Pintor Dos Reis, Silvia Regina Rogatto

Abstract read
In one paragraph

Article in Brazilian journal of otorhinolaryngology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Luis Eduardo Silva MózFaculdade de Ciências Médicas da Santa Casa de São Paulo, São Paulo, SP, Brazil; São Camilo Oncologia.
Regina Helena Garcia MartinsUniversidade Estadual Paulista (UNESP), Faculdade de Medicina, Departamento de Especialidades Cirúrgicas e Anestesiologia, Botucatu, SP, Brazil. Electronic address: regina.g.martins@unesp.br.
Rainer Marco Lopez LapaNational University Toribio Rodríguez de Mendoza of Amazonas, Institute of Livestock and Biotechnology, Laboratory of Molecular Physiology, Chachapoyas, Peru.
Rolando André Rios VillacisUniversidade de Brasília (UnB), Instituto de Ciências Biológicas, Departamento de Genética e Morfologia, Brasília, DF, Brazil.
Patricia Pintor Dos ReisUniversidade Estadual Paulista (UNESP), Faculdade de Medicina, Departamento de Cirurgia e Ortopedia, Botucatu, SP, Brazil.
Silvia Regina RogattoUniversity Hospital of Southern Denmark, Department of Clinical Genetics, Vejle, Denmark; University of Southern Denmark, Institute of Regional Health Research, Odense, Denmark. Electronic address: silvia.regina.rogatto@rsyd.dk.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionReinke'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.

objectivesWe investigated DNA Copy Number Alterations (CNAs) in specimens of RE and its potential association with malignant progression.

methodsWe 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.

resultsSix 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).

conclusionThe 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:

Indexed as

Laryngeal EdemaNeoplasmsComparative Genomic HybridizationDNADNA Copy Number VariationsEdemaHumansDNADNA copy number variationsGenomic medicineLaryngeal edemaMicroarray analysisPreneoplastic condition

Identifiers

PMID36243603
PMCPMC10071534

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