Chicco Davide, Sanavia Tiziana, Jurman Giuseppe
Institute of Health Policy Management and Evaluation, University of Toronto, 155 College Street, M5T 3M7, Toronto, Ontario, Canada.
Dipartimento di Scienze Mediche, Università di Torino, Via Verdi 8, 10124, Turin, Italy.
BioData Min. 2023 Mar 4;16(1):7. doi: 10.1186/s13040-023-00325-1.
Neuroblastoma is a childhood neurological tumor which affects hundreds of thousands of children worldwide, and information about its prognosis can be pivotal for patients, their families, and clinicians. One of the main goals in the related bioinformatics analyses is to provide stable genetic signatures able to include genes whose expression levels can be effective to predict the prognosis of the patients. In this study, we collected the prognostic signatures for neuroblastoma published in the biomedical literature, and noticed that the most frequent genes present among them were three: AHCY, DPYLS3, and NME1. We therefore investigated the prognostic power of these three genes by performing a survival analysis and a binary classification on multiple gene expression datasets of different groups of patients diagnosed with neuroblastoma. Finally, we discussed the main studies in the literature associating these three genes with neuroblastoma. Our results, in each of these three steps of validation, confirm the prognostic capability of AHCY, DPYLS3, and NME1, and highlight their key role in neuroblastoma prognosis. Our results can have an impact on neuroblastoma genetics research: biologists and medical researchers can pay more attention to the regulation and expression of these three genes in patients having neuroblastoma, and therefore can develop better cures and treatments which can save patients' lives.
神经母细胞瘤是一种儿童期神经肿瘤,全球影响着数十万儿童,其预后信息对患者、其家庭和临床医生至关重要。相关生物信息学分析的主要目标之一是提供稳定的基因特征,能够纳入那些表达水平可有效预测患者预后的基因。在本研究中,我们收集了生物医学文献中发表的神经母细胞瘤预后特征,并注意到其中最常见的三个基因是:AHCY、DPYLS3和NME1。因此,我们通过对诊断为神经母细胞瘤的不同患者组的多个基因表达数据集进行生存分析和二元分类,研究了这三个基因的预后能力。最后,我们讨论了文献中关于这三个基因与神经母细胞瘤相关的主要研究。我们在这三个验证步骤中的每一步的结果都证实了AHCY、DPYLS3和NME1的预后能力,并突出了它们在神经母细胞瘤预后中的关键作用。我们的结果可能会对神经母细胞瘤遗传学研究产生影响:生物学家和医学研究人员可以更加关注这三个基因在患有神经母细胞瘤的患者中的调控和表达,从而开发出更好的治愈方法和治疗手段,挽救患者生命。