全基因组和转录组的综合分析指导了对儿科预后不佳的癌症的临床护理
Rebecca J Deyell1, Yaoqing Shen2, Emma Titmuss2
1Department of Pediatrics, BC Children's Hospital and Research Institute, Vancouver, BC, Canada. rdeyell@cw.bc.ca.
Nature communications
|May 16, 2024
概括
整个基因组和转录组分析 (WGTA) 识别了预后不佳的恶性瘤儿童的可操作的癌症变异. 综合分析提供了显著的临床益处,指导向治疗以改善结果.
科学领域:
- 基因组学就是基因组学.
- 儿科瘤学 儿科瘤学
- 癌症基因组学 癌症基因组学
背景情况:
- 对预后不佳的儿科癌症进行综合基因组分析的实用性尚未得到充分证实.
- 复发性,耐药性或高风险的儿科恶性瘤存在重大治疗挑战.
研究的目的:
- 评估常规全基因组和转录组分析 (WGTA) 在确定儿科癌症治疗点中的作用.
- 评估基于WGTA的分子信息化疗法的临床效用和结果.
主要方法:
- 实体WGTA和匹配的生殖序列测序在79名患有癌症预后不佳的儿科参与者身上进行.
- 分析包括体质突变,结构重组,拷贝数变异,基因表达,免疫特征和生殖系癌症倾向变异.
- 确定了治疗点,并进行了分子知情疗法.
主要成果:
- 在12%的参与者中发现了生殖系致病变体,其中60%以前是未知的.
- 可操作变异从32% (向面板) 和62% (整个基因组) 增加到96%的WGTA和转录组数据集成.
- 在28名参与者中进行了分子信息化疗法,达到54%的临床益处率 (客观反应或稳定疾病≥6个月).
结论:
- 综合WGTA在几乎所有儿科预后不佳的瘤中识别治疗可行的变体方面非常有效.
- 这些发现证明了WGTA对晚期癌症儿童临床决策的直接可转化性.
- 常规WGTA对改善儿科瘤学治疗策略和治疗结果具有重大前景.
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