NGS from plasma samples in non-squamous cell lung carcinoma (NSCC) can aid in the detection of actionable genomic alterations. However, the absolute clinical value of NGS in liquid biopsy (LB) made at baseline is currently uncertain. We assessed the impact of plasma-based NGS using an in-house test and an outsourced test in comparison to a routine molecular pathology workflow. Twenty-four advanced/metastatic treatment-naïve NSCC patients were prospectively included. NGS analyses were conducted both in-house using the Oncomine cfTNA Panel and in an external testing center using the Foundation Liquid assay. NGS analysis and/or specific molecular based assays were conducted in parallel on tissue or cytological samples. Both LB tests were well correlated. Tissue NGS results were obtained in 67% of patients and demonstrated good correlation with LB assays. Activating EGFR mutations were detected using LB tests in three patients. PD-L1 expression assessed in tissue sections enabled the initiation of pembrolizumab treatment in five patients. NGS from LB is feasible in routine clinical practice using an in-house or an outsourced test at baseline. However, the impact on therapy selection was limited in this small series of patients and LB was not able to replace tissue-based testing in our hands.

中文翻译：

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在单个机构中对未治疗的晚期非鳞状肺癌进行基于NGS的液体活检的前瞻性评估。

非鳞状细胞肺癌（NSCC）血浆样品中的NGS可以帮助检测可操作的基因组改变。但是，目前尚不能确定在基线时进行液体活检（LB）的NGS的绝对临床价值。与常规分子病理学工作流程相比，我们使用内部测试和外包测试评估了基于血浆的NGS的影响。前瞻性纳入了24例未接受过治疗的晚期NSCC患者。NGS分析既可以在内部使用Oncomine cfTNA面板在内部进行，也可以在外部测试中心通过Foundation Liquid分析进行。在组织或细胞学样品上并行进行NGS分析和/或基于特定分子的分析。两项LB测试均具有良好的相关性。在67％的患者中获得了组织NGS结果，并​​与LB分析显示出良好的相关性。使用LB测试在三名患者中检测到激活的EGFR突变。在组织切片中评估的PD-L1表达使五名患者开始了pembrolizumab治疗。LB的NGS在常规临床实践中使用基线内部或内部测试是可行的。但是，在这一小系列患者中，对治疗选择的影响有限，LB无法代替我们手中的基于组织的测试。