Ribeiro Ilda Patrícia, Caramelo Francisco, Ribeiro Margarida, Machado Ana, Miguéis Jorge, Marques Francisco, Carreira Isabel Marques, Melo Joana Barbosa
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.
Oncol Lett. 2020 May;19(5):3459-3468. doi: 10.3892/ol.2020.11459. Epub 2020 Mar 12.
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 and 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.
尽管分子知识不断增加，诊断和治疗也有所改善，但上消化道癌患者的生存率仍然很低。识别早期诊断和预后生物标志物以及开发分子模型，以区分治疗后会复发和/或发生转移的患者，以及从靶向治疗中获益的患者，对于降低死亡率、提高生存率和改善这些患者的生活质量可能很重要。本研究通过阵列比较基因组杂交和甲基化特异性多重连接依赖探针扩增技术分析了21例上消化道癌。观察到多个染色体区域和基因存在拷贝数改变和甲基化。构建了一个包含3p染色体区域和 以及 基因的预测性（表观）基因组模型，突出了一个可能具有临床应用价值的分子特征。本研究可能有助于制定更个性化的患者管理方案和靶向药物设计。这种基因组和表观遗传模型预测复发和转移发展的能力应在未来更大规模的队列研究中进行评估和验证。
