突变特征,癌症驱动基因突变和转录基因子组预测肝细胞母细胞瘤存活率
Aurore Pire1, Theo Z Hirsch2, Guillaume Morcrette3
1Centre de Recherche des Cordeliers, Université Paris Cité, Sorbonne Université, Inserm, F-75006 Paris, France; Equipe Labellisée Ligue Nationale Contre le Cancer, Labex Onco-Immunology, Institute du Cancer Paris CARPEM, AP-HP, F-75015 Paris, France; Institut de Recherche Expérimentale et Clinique, Université Catholique de Louvain, Bruxelles, Belgium.
概括
肝母细胞瘤的分子特征可以预测治疗反应和存活率. 识别 识别 识别 识别
科学领域:
- 儿科瘤学 儿科瘤学
- 分子病理学分子病理学
背景情况:
- 肝母细胞瘤是最常见的儿科肝癌.
- 目前的治疗方法可以达到80%的5年生存率.
- 这项研究研究了用于预测治疗耐药性,复发和死亡率的分子标志物.
研究的目的:
- 评估肝细胞瘤分子特征的临床相关性.
- 为了识别有化学抗药,复发和与疾病相关的死亡风险的患者.
- 发现治疗反应和生存的分子预测因子.
主要方法:
- 对86名患有肝母细胞瘤的儿童的临床数据进行了回顾性分析.
- 对病理幻灯片和综合性瘤分子剖析 (DNA测序和转录组学) 的审查.
- 调查临床,病理和分子数据之间的关联.
主要成果:
- 主要是WNT/β-catenin通路的改变 (98%) 和11p15.5位点的变化 (74%).
- "肝脏原始体"和"免疫感冒"的转录基因亚型,SBS35西斯普拉丁突变特征,罕见的驱动基因突变和胚胎组织学与糟糕的结果有关.
- 分子标记物,包括"免疫感冒"和"肝脏原始体"亚型,独立预测生存率.
结论:
- 肝细胞瘤的治疗反应和存活率受到基因组和病理特征的影响.
- 分子标记提供了超出临床特征的独立预测价值.
- 这项研究突出了改善肝细胞母细胞瘤患者结果的关键分子见解.
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