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俄罗斯患者中MYCC和MYCN瘤扩增的预后价值

Alexander Chernov^1,2, Ekaterina Batotsyrenova¹, Sergey Zheregelya¹

¹Federal State Budgetary Educational Institution of Higher Education, "Saint Petersburg State Pediatric Medical University of the Ministry of Health of Russia",194100 Saint Petersburg, Russia.

Diseases (Basel, Switzerland)

|August 27, 2025

概括

俄罗斯脑髓母细胞瘤患者的MYC基因放大预示着生存率较低和复发风险较高. 这一发现有助于更好地分层患者的风险,以量身定制治疗强度和持续时间.

科学领域:

癌症学
遗传学
分子生物学

背景情况:

骨髓母细胞瘤 (MB) 的预后与遗传改变有关.
关键的预后因素包括MYC瘤基因放大和染色体异常,如1q,17q增加和10q,21p删除.
俄罗斯人口中这些遗传变化的患病率仍然很大程度上未被确定.

研究的目的:

在俄罗斯 MB 患者中调查 MYCC/ MYCN 放大, 17q 增益和 17p 删除的频率.
确定这些基因异常的预后意义.

主要方法:

在18MB患者样本中使用FISH测定检测细胞遗传异常.
探针包括MYCC-SO,MYCN-SO,MYCN-SG/cen2,cen7/p53和PML/RARα.
使用单向ANOVA和费舍尔F测试进行统计分析,p<0.05被认为是显著的.

主要成果:

在22. 2%的俄罗斯MB患者中发现了MYC基因放大,与整体存活率明显差 (0%对68%,p=0.0004).
在58. 3%的患者中观察到染色体17的染色体变化,在23. 1%的患者中观察到17p的缺失,在46. 2%的患者中观察到17q的增加.
整体存活时间与17q增加或17p删除没有显著差异.

结论:

MYC基因放大是预后不佳的关键预测因素,并增加了脑髓母细胞瘤转移复发的风险.
这种基因标记可以更准确地分类患者的风险.
根据风险分层,可以优化治疗强度和持续时间,从而改善患者的治疗结果.

关键词:

十七个美国 17q的收益在MYCC MYCN放大器在现场的光混合骨髓母细胞瘤儿童大脑瘤总生存率的预后值

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