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滴氧测序增强了在胃肠道流体瘤中KIT突变的检测,最初通过下一代测序热点面板进行评估

Lisa Robinson¹, Sharleen Rapp¹, Weiwei Zhang¹

¹Department of Pathology, Microbiology and Immunology, University of Nebraska Medical Center, Omaha, Nebraska.

The Journal of molecular diagnostics : JMD

|December 20, 2025

概括

下一代测序 (NGS) 可能会错过胃肠道 stromal 瘤 (GIST) 中的关键 KIT 突变. 脱氧测序对于识别这些临床可行的变体至关重要,特别是更大的删除或重复.

科学领域:

在瘤学瘤学.
遗传学是一个遗传学.
分子诊断学分子诊断学

背景情况:

胃肠道 stromal 瘤 (GIST) 主要是由 KIT 或 PDGFRA 基因的突变驱动的.
精确的突变检测对于指导最佳GIST治疗至关重要.
下一代测序 (NGS) 面板提供同时基因评估,但可能会在短读格式中与大变异作斗争.

研究的目的:

评估基于片的半导体NGS在检测GIST中的KIT和PDGFRA突变中的有效性.
评估NGS错过的临床可操作突变率.
确定替代测序方法的必要性,以进行全面的GIST突变分析.

主要方法:

在9年内对55名GIST患者样本进行了分析,使用各种基于AMPLIQON的NGS面板 (Ion AmpliSeq癌症热点面板v2,GIST面板,Oncomine精度测试).
脱氧测序用于NGS检测阴性病例,以检测KIT和PDGFRA突变.
在NGS和二氧化测序之间比较突变检测率.

主要成果:

在85%的病例中,NGS发现了KIT或PDGFRA突变.
另外9%的标本 (5分之55) 仅在二氧化测序后才为致病性KIT突变呈阳性.
总共有12%的所有已识别的KIT突变,特别是12-39个核酸删除或重复变异,需要进行二氧化测序来检测.

结论:

短读,基于片的NGS测定可能无法检测到GIST中显著比例的临床相关的KIT突变.
替代测试方式,如二氧化测序,建议用于由NGS负的GIST病例,以确保全面的突变识别.
需要考虑NGS的局限性来检测更大的插入/删除变体.

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