Clinical application of a cancer genomic profiling assay to guide precision medicine decisions
Clinical application of a cancer genomic profiling assay to guide precision medicine decisions
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DOI：
10.2217/pme-2017-0011
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发表时间：
2017-07-01
影响因子：
2.3
通讯作者：
Protopopov, Alexei
中科院分区：
文献类型：
--
作者：
Eifert, Cheryl;Pantazi, Angeliki;Protopopov, Alexei
目的：开发和应用一种全面准确的下一代基于测序的检测方法，帮助临床医生将肿瘤患者与治疗方法相匹配。材料和方法：使用来自充分表征的常规临床福尔马林固定石蜡包埋（FFPE）标本和细胞系的DNA评估了CANCERPLEX（R）检测试剂盒的性能。结果如下：检测的最大灵敏度为99.5%，其准确性几乎是100%，检测体细胞变异的等位基因分数低至10%。在接受检测的93%的患者（1000例中的930例）中确定了临床可行的变异。结论：该测试确定所有关键遗传变化、肿瘤突变负荷、微卫星不稳定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，包括识别可能受益于免疫检查点阻断疗法的患者。
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 (R) 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.