全基因组和转录组与精密瘤学的面板测序的翻译和临床比较
Irina A Kerle1,2,3, Thomas Gross4, Anja Kögler4
1Department for Translational Medical Oncology, National Center for Tumor Diseases Dresden (NCT/UCC), a partnership between DKFZ, Faculty of Medicine and University Hospital Carl Gustav Carus, TUD Dresden University of Technology, and Helmholtz-Zentrum Dresden-Rossendorf (HZDR), Dresden, Germany. irina.kerle@nct-dresden.de.
NPJ precision oncology
|January 10, 2025
概括
在罕见的瘤中,将广泛的基因组与全外体/基因组 (WES/WGS) 和转录组测序 (TS) 进行比较,发现了类似的治疗建议. 然而,WES/WGS±TS确定了小组遗漏的关键生物标志物,强调了它们的临床价值.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 分子生物学分子生物学
背景情况:
- 精密瘤学利用分子分析来定制癌症治疗.
- 存在多种不同的测序方法,其范围和临床效用各不相同.
- 自2015年以来,MASTER计划已经利用WES/WGS±TS用于罕见/晚期瘤.
研究的目的:
- 为了比较广泛的基因面板与全外体/基因组 (WES/WGS) 和转录组测序 (TS) 的临床实用性.
- 评估不同测序方法在罕见和晚期瘤中的一致性和独特发现.
- 评估测序策略对治疗建议和实施的影响.
主要方法:
- 从20名患有罕见/晚期瘤的患者身上重新测序瘤DNA和RNA.
- 广泛基因组测序与WES/WGS±TS数据的比较.
- 来自正常组织的生殖线DNA评估.
主要成果:
- 治疗建议的中位数:每名患者2.5 (基因组) 与3.5 (WES/WGS±TS) 相比.
- 大约50%的治疗建议在方法之间重叠.
- 大约三分之一的WES/WGS±TS建议确定了基因小组未涵盖的生物标志物.
- 在10个分子信息化疗法实施中,有8个得到了小组的支持,其中2个依赖于小组缺席的生物标志物.
结论:
- 基因面板和WES/WGS±TS都在精密瘤学中提供了有价值的治疗建议.
- 通过识别基因组中遗漏的生物标志物,WES/WGS±TS提供了额外的临床益处.
- 测序方法的选择影响了对罕见和晚期瘤的可操作分子信息的广度.
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