基于RNA的下一代测序融合面板对固体瘤的诊断影响:单一机构的经验
Fei Fei1,2, Christian A Kunder1, Chandler Ho1
1Department of Pathology, Stanford University School of Medicine, Stanford, CA, US.
American journal of clinical pathology
|November 24, 2023
概括
基于RNA的下一代测序 (NGS) 融合面板是可行的,对于诊断固体瘤是有用的. 这种分子测试有助于完善诊断和了解癌症进展,样本细胞性影响成功.
科学领域:
- 在瘤学瘤学.
- 分子生物学分子生物学
- 遗传学 是一个遗传学.
背景情况:
- 基因重组是癌症发展的关键致癌驱动因素.
- 基于RNA的下一代测序 (NGS) 越来越多地用于实体瘤分析.
研究的目的:
- 评估基于RNA的NGS融合面板对固体瘤的可行性和诊断实用性.
- 评估这种分子测试对病理诊断的影响.
主要方法:
- 要求在2022年5月至2023年3月期间对聚变电池板进行回顾性审查.
- 对人口,临床,病理和分子数据的分析.
- 评估基于RNA的NGS融合面板在固体瘤病理学中的实用性.
主要成果:
- 在所有病例中的24.3% (78/321) 和42.7% (47/110) 的诊断病例中,发现了融合事件.
- 该小组在31.9%的阳性病例 (15/47) 中改进或澄清了诊断.
- 发现样品的细胞性会影响测试的成功.
结论:
- 基于RNA的NGS融合面板在适当的临床病理学框架内对各种固体瘤是可行的和有价值的.
- 建议在更大的多机构研究中进一步验证.
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