Objectives

Attaining tumour material from lung cancer patients can be challenging with limited sample availability. Therefore, non-invasive means of assessing tumour material is becoming increasingly more important. Circulating tumour DNA (ctDNA), extracted from a blood sample is appealing for the patient, and can be performed serially over the course of treatment.

Materials and Methods

Here, we describe an approach for profiling the blood samples of 103 NSCLC patients for 73 variants in ctDNA across a panel of actionable lung cancer mutations using the UltraSEEK lung Panel (Agena Biosciences).

Results

Our cross-sectional study showed tumour and blood concordance in the detection of KRAS mutations (G12C, G12D, G12A/V, G12R, G12RC, Q61H) in 17/27 (63%), EGFR mutations (e746_a750del, e747_A750, T790M, L861Q) in 16/20 (80%) with additional PIK3CA_p545K mutations across both cohorts. In patients without reported tumour mutations, 11/56 (19.6%) presented with plasma mutations across EGFR, KRAS and PIK3CA. Where ctDNA mutations were measured longitudinally (n = 4 patients), the individual mutations mirrored the response to therapy/progression of disease.

Conclusion

Whilst preliminary, this study demonstrates the utility of detecting clinically actionable mutations in the blood samples of NSCLC patients at the time of presentation, and over the course of therapy.

中文翻译：

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使用 MassARRAY 技术鉴定非小细胞肺癌 (NSCLC) 中的循环肿瘤 DNA

目标

由于样本可用性有限，从肺癌患者身上获取肿瘤材料可能具有挑战性。因此，评估肿瘤材料的非侵入性手段变得越来越重要。从血液样本中提取的循环肿瘤 DNA (ctDNA) 对患者很有吸引力，并且可以在治疗过程中连续进行。

材料和方法

在这里，我们描述了一种方法，该方法使用 UltraSEEK 肺面板（Agena Biosciences）对 103 名 NSCLC 患者的血液样本中的 ctDNA 中的 73 种变异进行分析。

结果

我们的横断面研究显示，在 17/27 (63%) 中检测 KRAS 突变（G12C、G12D、G12A/V、G12R、G12RC、Q61H）、EGFR 突变（e746_a750del、e747_A750、T761Q ) 在 16/20 (80%) 中，两个队列中都有额外的 PIK3CA_p545K 突变。在未报告肿瘤突变的患者中，11/56 (19.6%) 出现跨 EGFR、KRAS 和 PIK3CA 的血浆突变。在纵向测量 ctDNA 突变的情况下（n = 4 名患者），个体突变反映了对治疗/疾病进展的反应。

结论

虽然是初步的，但这项研究证明了在非小细胞肺癌患者的血液样本中检测临床上可行的突变在就诊时和治疗过程中的效用。