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Updated: Sep 9, 2025

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通过RNA测序评估非典型的FISH发现

Beth A Pitel¹, Saba Alvand¹, Mark A Montanari¹

¹Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.

The Journal of molecular diagnostics : JMD

|September 3, 2025

概括

在瘤中检测基因重组时,分离探针光 (FISH) 是关键. RNA测序 (RNA-seq) 证明在临床上有用,用于澄清罕见的模两可的FISH结果,在40.7%的测试瘤中确定融合.

科学领域:

癌症学
分子诊断
遗传学

背景情况:

用分离探头 (BAP) 进行现场光杂交 (FISH) 是检测甲固定,嵌 (FFPE) 瘤中的基因重组的标准方法.
虽然BAP FISH测定通常提供了明确的结果,但有些瘤呈现出模两可的结果,需要进一步调查.

研究的目的:

分析大量FFPE固体瘤的典型和非典型BAP FISH结果.
评估RNA测序 (RNA-seq) 在解决模两可的FISH结果中的临床实用性.

主要方法:

在十年内使用BAP FISH测试的56,584个FFPE固体瘤的回顾性分析.
对113种瘤进行RNA-seq的应用,FISH结果不明确,以检测致癌基因融合.

主要成果:

在8586个异常FISH结果中,748个 (8. 7%) 是模两可的.
在46/ 113 (40. 7%) 的瘤中检测到瘤融合.
对于模两可的FISH病例,RNA-seq在59.7%的具有特定信号模式的瘤中发现了融合,而其他非典型模式的瘤则为9. 1%.

结论:

建立了一个对非典型BAP FISH结果进行分类的框架.
RNA-seq是澄清模两可的FISH结果和在瘤学中识别临床相关的基因融合的一个有价值的工具.

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