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大脑脊髓液cfDNA测序用于中央神经系统质瘤的分类

Florian Iser¹, Felix Hinz^2,3, Dirk C Hoffmann^1,4

¹Clinical Cooperation Unit Neurooncology, German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.

Clinical cancer research : an official journal of the American Association for Cancer Research

|January 31, 2024

概括

从脑脊液 (CSF) 中分析无细胞DNA (cfDNA) 能够对脑质瘤进行分子分类. 这种方法可以识别瘤特异性变化,有助于诊断和分类中枢神经系统 (CNS) 质瘤.

科学领域:

神经瘤学神经瘤学
基因组学就是基因组学.
分子诊断学分子诊断

背景情况:

主要的中枢神经系统 (CNS) 质瘤按遗传变异进行分类.
固体瘤组织是基因组分析的传统来源.
脑脊液 (CSF) 中的无细胞DNA (cfDNA) 提供了基因组分析的替代来源.

研究的目的:

开发和验证一个针对CSFcfDNA的定向测序工作流程.
使用CSFcfDNA建立一个分子引导的瘤分类策略,用于质瘤.
评估CSFcfDNA在初级和复发性质瘤中识别遗传变化的实用性.

主要方法:

向下一代测序 (NGS) 的CSFcDNA在85名怀疑质瘤的患者身上进行.
分析了副本数变异 (CNV),单核酸变异 (SNV) 和插入/删除 (indel) 配置文件.
分子分类与38例匹配实体瘤组织的结果进行了比较.

主要成果:

通过分子引导的分类,在75%的质母细胞瘤和52.6%的其他质母细胞瘤病例中确定了瘤实体或癌症特异性变化.
脑液cfDNA和固体瘤组织之间的重叠在CNVs (26%-48%) 和SNVs (44%) 在预定义的位置上最高.
在23.5%的病例中,分子分类是可以实现的,最初的结果没有诊断.

结论:

成功开发了一个针对CSFcfDNA的定向测序工作流.
通过使用CSF cfDNA进行分子导向瘤分类的策略已为质瘤建立.
中枢神经系统cfDNA分析为中枢神经系统质瘤的基因组特征提供了一个可行的替代方案.

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