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. 2023 Mar-Apr;89(2):279-284.
doi: 10.1016/j.bjorl.2022.09.002. Epub 2022 Sep 22.

DNA rare copy number alterations in Reinke's Edema

Luis Eduardo Silva Móz  1 , Regina Helena Garcia Martins  2 , Rainer Marco Lopez Lapa  3 , Rolando André Rios Villacis  4 , Patricia Pintor Dos Reis  5 , Silvia Regina Rogatto  6
Affiliations

DNA rare copy number alterations in Reinke's Edema

Luis Eduardo Silva Móz et al. Braz J Otorhinolaryngol. 2023 Mar-Apr.

Abstract

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.

Keywords: DNA copy number variations; Genomic medicine; Laryngeal edema; Microarray analysis; Preneoplastic condition.

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Figures

Figure 1
Figure 1
Rare copy number alterations detected in six of eight patients with Reinke’s edema. (A) Gain of 13q34 in case 2. (B) Loss of 10p14 in case 3. (C) Gain of 2q37.3 in case 4. (D) Loss of 4q13.3 in case 7.
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