一种全封闭实时 PCR 平台用于检测非小细胞肺癌患者液体活检中 KRAS p.G12C 突变的性能评估。

Performance evaluation of a fully closed real-time PCR platform for the detection of KRAS p.G12C mutations in liquid biopsy of patients with non-small cell lung cancer.

机构信息

Public Health, University of Naples Federico II, Naples, Italy.

Public Health, University of Naples Federico II, Naples, Italy

出版信息

J Clin Pathol. 2022 May;75(5):350-353. doi: 10.1136/jclinpath-2021-207416. Epub 2021 Mar 1.

DOI:10.1136/jclinpath-2021-207416

PMID:33649142

Abstract

Whenever tissue sample is not available, non-small cell lung cancer (NSCLC) biomarker testing is performed with liquid biopsy. The Kirsten rat sarcoma viral oncogene homolog () p.G12C mutation is a novel target in patients with NSCLC. In this study, 33 NSCLC frozen plasma samples, previously characterised for mutational status by next generation sequencing (NGS), were processed by the fully automated Idylla assay. In 30/33 cases, archival matched cell-free DNA (cfDNA) was also directly pipetted in the cartridge. Overall, 30/33 plasma and 28/30 cfDNA samples yielded valid results. In 29/30 of p.G12C mutant plasma samples and 26/28 of cfDNA, Idylla confirmed the NGS results. In conclusion, the Idylla NSCLC liquid biopsy assay may represent a reliable tool to assess p.G12C mutation.

摘要

当无法获得组织样本时，通常采用液体活检对非小细胞肺癌（NSCLC）的生物标志物进行检测。Kirsten 大鼠肉瘤病毒致癌基因同源物（KRAS）p.G12C 突变是 NSCLC 患者的一个新的治疗靶点。在这项研究中，33 例 NSCLC 冷冻血浆样本，先前通过下一代测序（NGS）对基因突变状态进行了特征分析，采用全自动 Idylla 检测进行处理。在 33 例中，存档的游离循环 DNA（cfDNA）也直接吸入试剂盒中。总体而言，33 例血浆和 30 例 cfDNA 样本均获得有效结果。在 29 例 p.G12C 突变型血浆样本和 26 例 cfDNA 中，Idylla 证实了 NGS 结果。综上所述，Idylla NSCLC 液体活检检测可能是评估 p.G12C 突变的可靠工具。