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DNA rare copy number alterations in Reinke’s Edema

Brazilian journal of otorhinolaryngology, 2023-03, Vol.89 (2), p.279-284 [Peer Reviewed Journal]

2022 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial ;Copyright © 2022 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier España, S.L.U. All rights reserved. ;2022 Associac¸˜ao Brasileira de Otorrinolaringologia e Cirurgia C´ervico-Facial. Published by Elsevier Editora Ltda. This is an open. 2022 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial ;This work is licensed under a Creative Commons Attribution 4.0 International License. ;ISSN: 1808-8694 ;ISSN: 1808-8686 ;EISSN: 1808-8686 ;DOI: 10.1016/j.bjorl.2022.09.002 ;PMID: 36243603

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  • Title:
    DNA rare copy number alterations in Reinke’s Edema
  • Author: Móz, Luis Eduardo Silva ; Martins, Regina Helena Garcia ; Lapa, Rainer Marco Lopez ; Villacis, Rolando André Rios ; dos Reis, Patricia Pintor ; Rogatto, Silvia Regina
  • Subjects: Comparative Genomic Hybridization ; DNA ; DNA copy number variations ; DNA Copy Number Variations - genetics ; Edema - complications ; Genomic medicine ; Humans ; Laryngeal edema ; Laryngeal Edema - complications ; Laryngeal Edema - pathology ; Microarray analysis ; Neoplasms - complications ; Original ; OTORHINOLARYNGOLOGY ; Preneoplastic condition
  • Is Part Of: Brazilian journal of otorhinolaryngology, 2023-03, Vol.89 (2), p.279-284
  • Description: •Copy Number Alterations (CNAs) was investigated in specimens of Reinke’s Edema (RE).•Microarray analysis revealed different rare CNAs in six of eight RE cases evaluated.•Four RE samples presented CNAs encompassing genes related to cancer development. 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. We investigated DNA Copy Number Alterations (CNAs) in specimens of RE and its potential association with malignant progression. 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. 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). 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. 4.
  • Publisher: Brazil: Elsevier España, S.L.U
  • Language: English;Portuguese
  • Identifier: ISSN: 1808-8694
    ISSN: 1808-8686
    EISSN: 1808-8686
    DOI: 10.1016/j.bjorl.2022.09.002
    PMID: 36243603
  • Source: SciELO
    GFMER Free Medical Journals
    MEDLINE
    PubMed Central
    DOAJ Directory of Open Access Journals
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