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综合基因组分析为癌症患者提供了更多的临床选择。

Integrated genomic profiling expands clinical options for patients with cancer.

机构信息

Tempus Labs, Inc., Chicago, IL, USA.

出版信息

Nat Biotechnol. 2019 Nov;37(11):1351-1360. doi: 10.1038/s41587-019-0259-z. Epub 2019 Sep 30.

Abstract

Genomic analysis of paired tumor-normal 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 tumor-normal plus transcriptome sequencing outperforms tumor-only DNA panel testing.

摘要

对配对肿瘤-正常样本和临床数据进行基因组分析,可用于将患者与癌症疗法或临床试验相匹配。我们使用 Tempus xT 平台,通过 DNA 测序、RNA 测序和免疫生物标志物分析了 500 例不同肿瘤类型的患者样本。使用肿瘤和种系数据集可显著提高突变识别能力,并降低假阳性率。RNA 测序增强了基因融合检测和癌症类型分类。仅使用 DNA 测序,29.6%的患者与高水平证据或有力研究支持的精准疗法相匹配。加入 RNA 测序和免疫治疗生物标志物结果后,这一比例增加到 43.4%。将这些数据与临床标准相结合,根据 xT 检测测量的生物标志物,76.8%的患者至少与一项相关临床试验相匹配。这些结果表明,广泛的分子谱分析结合临床数据可确定大多数癌症患者的个性化疗法和临床试验,并且配对肿瘤-正常加转录组测序优于仅肿瘤 DNA 面板检测。

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