在Desmoid瘤中基因组,表观基因组和转录基因组间和内瘤异质性
Chelsea De Bellis1,2, Sujay Vennam3, Christopher Eeles4
1Department of Surgery, McGill University, Montreal, Quebec, Canada.
概括
瘤表现出瘤内部和瘤之间显著的分子变异性,影响复发预测. 复发性瘤会产生新的变化,突出显示异质性.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 分子病理学分子病理学
背景情况:
- 德斯莫伊德瘤是局部侵略性的纤维细胞瘤,复发率高.
- 之前的研究表明,转录组签名可用于复发预测.
- 在desmoid瘤中的分子变异性仍然在很大程度上未被探索.
研究的目的:
- 通过转录基因分析识别可预测瘤复发的基因.
- 通过使用多原子分析,研究原发性和复发性desmoid瘤内部和之间的分子变异性.
主要方法:
- 31个瘤样本的转录组分析.
- 在来自不同瘤区域的24个标本上进行多原子分析 (DNA甲基化,拷贝数变化,突变,基因表达).
- 对三名患者的原发性和复发性瘤的分析.
主要成果:
- 转录组预后签名在个体瘤内和患者之间显示出很高的变异性.
- 在同一瘤的不同区域发现了有利和不利的结局标志.
- 在基因组,表观基因组和转录基因组模式中观察到显著的瘤内和瘤间异质性.
结论:
- 德斯莫伊德瘤表现出显著的瘤内和瘤间分子异质性.
- 单次活检分子分析可能低估了desmoid瘤的变化.
- 复发性desmoid瘤获得新的分子变化,强调异质性在药物开发和生物标志物验证中的作用.
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