小柯机器人

美国Tempus实验室Kevin P. White研究小组取得一项新进展，他们利用整合基因组分析为为癌症患者扩展了临床选择。2019年9月30日，国际知名学术期刊《自然—生物技术》在线发表了这一成果。

研究人员使用Tempus xT平台通过DNA-seq、RNA-seq和免疫生物标记分析了500种不同肿瘤类型的患者样品。使用肿瘤和种系数据集可显著提高突变鉴定并降低假阳性率。RNA-seq增强了基因融合检测和癌症类型分类。仅使用DNA-seq，就有29.6％的患者与精确疗法相匹配，这些疗法得到了高水平的证据或有力的研究的支持。随着RNA-seq和免疫疗法生物标志物结果的增加，该比例增加到43.4％。将这些数据与临床标准相结合，根据xT分析测量的生物标志物，可将76.8％的患者与至少一项相关的临床试验相匹配。

这些结果表明，广泛的分子谱分析与临床数据相结合，可为大部分癌症患者确定个性化疗法和临床试验，并且配对的肿瘤与正常组织转录组测序优于仅进行肿瘤DNA检测。

据了解，配对的肿瘤与正常组织的基因组分析和临床数据可用于将患者与癌症治疗或临床试验相匹配。

附：英文原文

Title: Integrated genomic profiling expands clinical options for patients with cancer

Author: Nike Beaubier, Martin Bontrager, Robert Huether, Catherine Igartua, Denise Lau, Robert Tell, Alexandria M. Bobe, Stephen Bush, Alan L. Chang, Derick C. Hoskinson, Aly A. Khan, Emily Kudalkar, Benjamin D. Leibowitz, Ariane Lozachmeur, Jackson Michuda, Jerod Parsons, Jason F. Perera, Ameen Salahudeen, Kaanan P. Shah, Timothy Taxter, Wei Zhu, Kevin P. White

Issue&Volume: 2019-09-30

Abstract: Genomic analysis of paired tumornormal samples and clinical data can be used to match patients to cancer therapies or clinical trials. We analyzed 500 patient samples across diverse tumor types using the Tempus xT platform by DNA-seq, RNA-seq and immunological biomarkers. The use of a tumor and germline dataset led to substantial improvements in mutation identification and a reduction in false-positive rates. RNA-seq enhanced gene fusion detection and cancer type classifications. With DNA-seq alone, 29.6% of patients matched to precision therapies supported by high levels of evidence or by well-powered studies. This proportion increased to 43.4% with the addition of RNA-seq and immunotherapy biomarker results. Combining these data with clinical criteria, 76.8% of patients were matched to at least one relevant clinical trial on the basis of biomarkers measured by the xT assay. These results indicate that extensive molecular profiling combined with clinical data identifies personalized therapies and clinical trials for a large proportion of patients with cancer and that paired tumornormal plus transcriptome sequencing outperforms tumor-only DNA panel testing. 

DOI: 10.1038/s41587-019-0259-z

Source:https://www.nature.com/articles/s41587-019-0259-z

Nature Biotechnology：《自然—生物技术》，创刊于1996年。隶属于施普林格·自然出版集团，最新IF：68.164
官方网址：https://www.nature.com/nbt/
投稿链接：https://mts-nbt.nature.com/cgi-bin/main.plex