Upper aerodigestive tract carcinoma: Development of a (epi)genomic predictive model for recurrence and metastasis

Ribeiro,Ilda Patrícia; Caramelo,Francisco; Ribeiro,Margarida; Machado,Ana; Miguéis,Jorge; Marques,Francisco; Carreira,Isabel Marques; Melo,Joana Barbosa

doi:10.3892/ol.2020.11459

Upper aerodigestive tract carcinoma: Development of a (epi)genomic predictive model for recurrence and metastasis

Authors:
- Ilda Patrícia Ribeiro
- Francisco Caramelo
- Margarida Ribeiro
- Ana Machado
- Jorge Miguéis
- Francisco Marques
- Isabel Marques Carreira
- Joana Barbosa Melo
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Affiliations: Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, 3000‑354 Coimbra, Portugal, iCBR‑CIMAGO‑Coimbra Institute for Clinical and Biomedical Research/Center of Investigation on Environment Genetics and Oncobiology‑Faculty of Medicine, University of Coimbra, 3001‑301 Coimbra, Portugal, Department of Otorhinolaryngology‑Head and Neck Surgery, Coimbra Hospital and University Centre, CHUC‑Coimbra Hospital and University Centre, EPE, 3000‑075 Coimbra, Portugal
Published online on: March 12, 2020 https://doi.org/10.3892/ol.2020.11459
Pages: 3459-3468
Copyright: © Ribeiro et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Despite the increased molecular knowledge and the diagnostic and therapeutic improvements, the survival of patients with upper aerodigestive tract carcinoma remains poor. The identification of early diagnostic and prognostic biomarkers and the development of molecular models to distinguish patients that will recur and/or develop metastasis after treatment as well as to benefit with target therapies can be important to decrease mortality, improve survival rates and improve the quality of life of these patients. The current study analyzed 21 upper aerodigestive tract carcinomas through array comparative genomic hybridization and methylation‑specific multiplex ligation‑dependent probe amplification techniques. A number of chromosomal regions and genes were observed with copy number alterations and methylation. A predictive (epi)genomic model that comprises the 3p chromosomal region and WT1, VHL and THBS1 genes was built, highlighting a molecular signature with possible clinical use. The current study may aid in the development of a more individualized patient management and targeted drug design. The power of this genomic and epigenetic model to predict the recurrence and metastasis development should be evaluated and validated in future larger cohort study.

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