Abstract
BackgroundNGS 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.MethodsTwenty-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.ResultsBoth 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.ConclusionNGS 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.
Highlights
NGS from plasma samples in non-squamous cell lung carcinoma (NSCC) can aid in the detection of actionable genomic alterations
In patients with tissue material that is insufficient in size or quality to carry out all the planned analyses, liquid biopsies (LB) from plasma samples present an interesting
Plasma-based testing has been mainly established for the analysis of EGFR mutations with good reproducibility but NGS has recently been developed to allow the analysis of several genes in parallel, with resolution down to 0.1% allele frequency [3, 4]
Summary
NGS from plasma samples in non-squamous cell lung carcinoma (NSCC) can aid in the detection of actionable genomic alterations. The detection of genomic alterations in advanced or metastatic stages of non-squamous cell lung carcinoma (NSCC) is crucial in order to select the appropriate treatment strategy [1]. In patients with tissue material that is insufficient in size or quality to carry out all the planned analyses, liquid biopsies (LB) from plasma samples present an interesting. Heeke et al J Transl Med (2020) 18:87 alternative for the analysis of genomic alterations, even if a tissue re-biopsy should be mandatory if possible [2]. Plasma-based NGS can either be carried out in-house using targeted sequencing panels or blood can be sent out to certified testing centers who provide a final report outlining the detected genomic alterations. The outsourced testing requires no technical equipment and is independent of sample throughput
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