Personal Genome Diagnostics Inc., Baltimore, MD, 21224, USA.
Laboratory of Human Carcinogenesis, Center for Cancer Research, National Cancer Institute, Bethesda, MD, 20850, USA.
Nat Commun. 2022 May 20;13(1):2830. doi: 10.1038/s41467-022-30380-x.
The lack of validated, distributed comprehensive genomic profiling assays for patients with cancer inhibits access to precision oncology treatment. To address this, we describe elio tissue complete, which has been FDA-cleared for examination of 505 cancer-related genes. Independent analyses of clinically and biologically relevant sequence changes across 170 clinical tumor samples using MSK-IMPACT, FoundationOne, and PCR-based methods reveals a positive percent agreement of >97%. We observe high concordance with whole-exome sequencing for evaluation of tumor mutational burden for 307 solid tumors (Pearson r = 0.95) and comparison of the elio tissue complete microsatellite instability detection approach with an independent PCR assay for 223 samples displays a positive percent agreement of 99%. Finally, evaluation of amplifications and translocations against DNA- and RNA-based approaches exhibits >98% negative percent agreement and positive percent agreement of 86% and 82%, respectively. These methods provide an approach for pan-solid tumor comprehensive genomic profiling with high analytical performance.
癌症患者缺乏经过验证的、可广泛应用的全面基因组分析检测手段，这限制了精准肿瘤治疗的应用。针对这一问题，我们描述了 elio tissue complete，该产品已获得 FDA 批准，可用于检测 505 个与癌症相关的基因。使用 MSK-IMPACT、FoundationOne 和基于 PCR 的方法对 170 个临床肿瘤样本中具有临床和生物学意义的序列变化进行独立分析，结果显示阳性符合率>97%。我们观察到，在对 307 个实体瘤进行肿瘤突变负荷评估时，与全外显子测序的高度一致性（Pearson r = 0.95），以及对 223 个样本的 elio tissue complete 微卫星不稳定性检测方法与独立的 PCR 检测方法的比较，阳性符合率为 99%。最后，针对扩增和易位，DNA 和 RNA 检测方法的阴性符合率>98%，阳性符合率分别为 86%和 82%。这些方法为全面的泛实体瘤基因组分析提供了一种具有高分析性能的方法。
