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拷贝数变化的明显模式可能预测中枢神经系统生殖细胞瘤的不良结果

Hirokazu Takami¹, Kaishi Satomi², Kohei Fukuoka³

¹Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, 7-3-1, Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan. takami-tky@umin.ac.jp.

Scientific reports

|September 21, 2023

概括

像3p25.3增益和12p增益这样的拷贝数变化可能预测中枢神经系统生殖细胞瘤 (GCTs) 的预后不佳. 具体来说,3p25.3的增长与非细菌性GCT和较短的无进展生存时间有关.

科学领域:

神经瘤学神经瘤学
癌症基因组学癌症基因组学
细菌细胞瘤的发生.

背景情况:

12p增益是已知的中枢神经系统生殖细胞瘤 (CNS GCTs) 的不良预后标志物.
3p25.3的增加最近已经成为丸GCT中预后不佳的独立预测因素.

研究的目的:

调查中枢神经系统GCT中3p25.3增益的临床意义.
评估中枢神经系统GCT中3p25.3增益和12p增益的综合预后值.

主要方法:

在81个中枢神经系统GCT病例中使用甲基化阵列对副本数量变化的分析.
3p25.3增长与GCT亚型,组织学组成部分和临床结果 (无进展生存) 的相关性.

主要成果:

在6.2%的中枢神经系统GCT中观察到3p25.3的增益,特别是12.5%的非生殖性GCT (NGGCT).
含黄囊瘤成分的NGGCT显示3p25.3增益的频率更高 (18.2%).
3p25.3的增长与NGGCT中无进展生存时间显著缩短有关 (p=0.047).
3p25.3增益和/或12p增益的组合在具有恶性成分的NGGCT中更频繁 (69%).

结论:

3p25.3 gain可能是特定于NGGCTs的副本编号更改.
结合3p25.3增益和12p增益可以作为中枢神经系统GCT中负面预后或治疗耐药性的标记.
经常出现染色体不稳定的胚芽瘤代表了一个不利的子组.

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