从中枢神经系统-PNET的分子分类中出现了新的脑瘤实体
Dominik Sturm1,2, Brent A Orr3, Umut H Toprak4
1Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK), 69120 Heidelberg, Germany.
Cell
|February 27, 2016
概括
这项研究重新分类了攻击性中枢神经系统原始神经外皮瘤 (CNS-PNET). 具有明显基因变化的新分子实体为这些罕见的儿童和成人脑瘤提供了改进的诊断和向治疗.
科学领域:
- 神经瘤学
- 分子病理学
- 儿童瘤学
背景情况:
- 中枢神经系统原始神经外皮瘤 (CNS-PNETs) 是一种侵袭性的胚胎瘤.
- 准确的诊断对于有效的治疗至关重要,但由于重叠的特征,这可能是具有挑战性的.
研究的目的:
- 通过分子重新分类机构诊断的中枢神经系统-PNET.
- 识别具有明显遗传变异和临床特征的新型中枢神经系统瘤实体.
- 为改善中枢神经系统差异化瘤的诊断和治疗策略提供便利.
主要方法:
- 中枢神经系统-PNET的综合分子分析.
- 与已确定的中枢神经系统瘤实体进行比较分析.
- 基因病理和临床数据的相关性.
主要成果:
- 一个重要的中枢神经网络子集被重新分类为已知的瘤类型.
- 发现了四种新的中枢神经系统瘤实体:具有FOXR2激活的中枢神经系统神经母细胞瘤 (CNS NB-FOXR2),具有CIC变异的中枢神经系统尤инг肉瘤家族瘤 (CNS EFT-CIC),具有MN1变异的中枢神经系统高度神经皮质瘤 (CNS HGNET-MN1) 和具有BCOR变异的中枢神经系统高度神经皮质瘤 (CNS HGNET-BCOR).
- 每一个新的实体都与反复发生的基因变异和独特的病理学和临床特征有关.
结论:
- 分子重新分类精确了中枢神经网络的诊断.
- 这些新实体的识别为开发有针对性的治疗提供了基础.
- 这项工作将为差异化中枢神经系统瘤患者进行更精确的临床试验.
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