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光在现场杂交,下一代测序和DNA甲基化微阵列的比较,用于对质瘤的拷贝数变异评估

Jiao Wang¹, Yang Lan¹, Hao-Yue Qi¹

¹Institute of Pathology and Southwest Cancer Center, Southwest Hospital, Third Military Medical University (Army Medical University) and Key Laboratory of Tumor Immunopathology, The Ministry of Education of China, Chongqing, China.

Laboratory investigation; a journal of technical methods and pathology

|April 10, 2025

概括

通过比较质瘤的复制数变异 (CNV) 检测方法,这项研究发现下一代测序 (NGS) 和DNA甲基化微阵列 (DMM) 高度一致,与传统的光在位杂交 (FISH) 不同. 不一致的结果与高度质瘤有关.

科学领域:

在瘤学瘤学.
遗传学遗传学是一个
分子诊断学分子诊断

背景情况:

基因水平和染色体拷贝数变异 (CNV) 的评估对于结质瘤诊断至关重要.
传统的光现场杂交 (FISH) 是常用的,但新方法如下一代测序 (NGS) 和DNA甲基化微阵列 (DMM) 正在出现.
这些在质瘤中检测CNV检测试验的比较性能和一致性尚未得到充分证实.

研究的目的:

系统地比较FISH,NGS和DMM的性能和一致性,以检测质瘤中关键的CNV参数.
确定与这些诊断方法之间的差异相关的因素.
为临床质瘤诊断中的综合多平台测试提供建议.

主要方法:

对104名质瘤患者进行了回顾性队列研究.
对6个CNV参数的FISH,NGS和DMM进行系统比较:EGFR,CDKN2A/B,1p,19q,染色体7和染色体10.
统计分析以评估一致性并确定与不一致结果相关的因素.

主要成果:

对于表皮生长因子受体 (EGFR) 的评估,在FISH,NGS和DMM之间观察到很高的一致性.
与其他CNV参数相比,FISH与NGS/DMM的一致性较低,而NGS和DMM的一致性较强.
不一致的病例显着与高度质瘤 (3/4级) 和高比例的基因组改变有关,这表明恶性瘤和基因组不稳定性更高.

结论:

与传统的FISH相比,NGS和DMM在质瘤中对CNV评估的一致性更高.
在CNV检测中的差异与瘤等级和基因组不稳定性有关.
综合的多平台测定建议用于精确的临床诊断和结质瘤的预后.

关键词:

一个DNA甲基化微阵列.副本数量的变化副本数量的变化光在现场混合化光.质瘤是一种质瘤.这是下一代测序.

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