视网母细胞瘤:使用下一代序列面板对瘤样本,水性水分和外周血液进行分子评估
Thais Biude Mendes1, Indhira Dias Oliveira1, Francine Tesser Gamba1,2
1Genetics Laboratory, Pediatric Oncology Institute (IOP/GRAACC), Federal University of Sao Paulo, Sao Paulo 04023-062, SP, Brazil.
International journal of molecular sciences
|May 7, 2025
概括
使用水性幽默和血液的液体活检可以检测视网膜母细胞瘤的遗传变化,帮助诊断. 这种非侵入性方法对改善癌症治疗策略有前途.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
背景情况:
- 视网母细胞瘤是一种与RB1基因相关的遗传疾病.
- 瘤可访问性挑战需要非侵入性诊断方法.
- 液体活检为癌症诊断和预后提供了一个有希望的替代方案.
研究的目的:
- 用液体活检样本调查视网膜母细胞瘤中的分子变化.
- 评估下一代测序 (NGS) 对视网膜母细胞瘤诊断和预后的有用性.
- 评估使用水性幽默和外围血液进行分子分析的可行性.
主要方法:
- 来自76名视网膜母细胞瘤患者的162个样本 (瘤,水性幽默,外周血液) 的基因组分析.
- 使用了Oncomine儿童癌症研究小组 (OCCRA®) 进行下一代测序 (NGS).
- 分析了配对的瘤,水性幽默和外周血液样本,以检测基因变异.
主要成果:
- 在所有样本类型中检测到22个改变的基因和54个变异.
- 在29个配对样本病例中的16个中确定了RB1基因变异.
- 在3名患者的三种样本类型和12名患者的瘤/水性幽默中发现了一致的RB1变化.
结论:
- 该OCCRA小组成功检测到RB1,MYCN,ABL2和MDM4基因中的分子变异.
- 尽管cfDNA度有限,但水性幽默是分析难以接近的瘤的可行替代方案.
- 液体活检显示出改善视网膜母细胞瘤诊断和治疗指导的巨大潜力.
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