一种癌症基因组分析检测方法在指导精准医疗决策中的临床应用。
Clinical application of a cancer genomic profiling assay to guide precision medicine decisions.
作者信息
Eifert Cheryl, Pantazi Angeliki, Sun Ruobai, Xu Jia, Cingolani Pablo, Heyer Joerg, Russell Meaghan, Lvova Maria, Ring Jennifer, Tse Julie Y, Lyle Stephen, Protopopov Alexei
机构信息
KEW, Inc., 840 Memorial Dr., Cambridge, MA 02139, USA.
IBM Watson Health, 75 Binney St., Cambridge, MA 02142, USA.
出版信息
Per Med. 2017 Jul;14(4):309-325. doi: 10.2217/pme-2017-0011. Epub 2017 May 26.
AIM
Develop and apply a comprehensive and accurate next-generation sequencing based assay to help clinicians to match oncology patients to therapies.
MATERIALS & METHODS: The performance of the CANCERPLEX assay was assessed using DNA from well-characterized routine clinical formalin-fixed paraffin-embedded (FFPE) specimens and cell lines.
RESULTS
The maximum sensitivity of the assay is 99.5% and its accuracy is virtually 100% for detecting somatic alterations with an allele fraction of as low as 10%. Clinically actionable variants were identified in 93% of patients (930 of 1000) who underwent testing.
CONCLUSION
The test's capacity to determine all of the critical genetic changes, tumor mutation burden, microsatellite instability status and viral associations has important ramifications on clinical decision support strategies, including identification of patients who are likely to benefit from immune checkpoint blockage therapies.
目的
开发并应用一种基于新一代测序的全面且准确的检测方法，以帮助临床医生为肿瘤患者匹配治疗方案。
材料与方法
使用来自特征明确的常规临床福尔马林固定石蜡包埋（FFPE）标本和细胞系的DNA评估CANCERPLEX检测方法的性能。
结果
该检测方法的最大灵敏度为99.5%，对于检测等位基因分数低至10%的体细胞改变，其准确性几乎为100%。在接受检测的93%（1000例中的930例）患者中鉴定出了具有临床可操作性的变异。
结论
该检测方法确定所有关键基因变化、肿瘤突变负荷、微卫星不稳定性状态和病毒关联的能力，对临床决策支持策略具有重要影响，包括识别可能从免疫检查点阻断疗法中获益的患者。
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