通过RNA测序和共同表达分析识别儿科上腺皮质瘤的预后枢纽基因和关键途径
Luciana Chain Veronez1, Alcides Euzebio Tavares Xavier2, Luiz Fernando Nagano2
1Departments of Pediatrics and Ribeirão Preto Medical School, University of São Paulo, 14049-900, Ribeirão Preto, SP, Brazil.
Molecular and cellular endocrinology
|October 16, 2024
概括
研究人员在儿科上腺皮质瘤 (ACTs) 中确定了预测患者结果的关键基因. 这些发现为诊断和了解这些罕见的儿童癌症的进展提供了潜在的新标志物.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 儿科医学 儿科医学
背景情况:
- 儿科上腺皮层瘤 (ACT) 是罕见的,由于瘤异质性,预后具有挑战性.
- 在巴西南部和东南部,儿科ACT的发病率很高.
- 为儿科ACT建立可靠的预后标志物对于患者管理至关重要.
研究的目的:
- 在儿科上腺皮层瘤中识别预后显著的基因.
- 为了比较儿科ACT病例与有利和不利的临床结果之间的基因表达特征.
- 验证潜在的诊断标记,以预测ACT结果.
主要方法:
- 对14个儿科ACT样本进行了转录组分析.
- 进行了差异基因表达分析,比较了有利和不利的结局情况.
- 与无事件生存 (EFS) 相关的枢纽基因在一个独立的数据集 (GSE76019) 中被识别和验证.
主要成果:
- 在有利和不利的儿科ACT病例之间确定了1257个差异表达的基因.
- 在60个中心基因中,15个基因与五年EFS显著相关.
- 十个枢纽基因在预测儿科上腺皮质癌结果方面表现出诊断价值.
- 特定基因过度表达 (N4BP2,HSPB6,JUN,APBB1IP,STK17B,CSNK1D,KDM3A) 与较差的EFS相关.
- 其他基因 (ISCU,PTPR,PRKAB2,CD48,PRF1,ITGAL,KLK15,HIST1H3J) 的表达较低与更糟糕的结果有关.
结论:
- 已识别的枢纽基因对儿科ACT具有显著的预后价值.
- 这些基因可能在儿科上腺皮层瘤的进展中发挥作用.
- 这项研究表明,这些基因是儿科ACT患者临床结果的潜在预测因素.
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