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

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

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 (KRAS) p.G12C mutation is a novel target in patients with NSCLC. In this study, 33 NSCLC frozen plasma samples, previously characterised for KRAS mutational status by next generation sequencing (NGS), were processed by the fully automated Idylla KRAS 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 KRAS p.G12C mutant plasma samples and 26/28 of cfDNA, Idylla confirmed the NGS results. In conclusion, the Idylla NSCLC KRAS liquid biopsy assay may represent a reliable tool to assess KRAS p.G12C mutation.

Keywords: lung neoplasms; molecular; molecular biology; pathology.

MeSH terms

  • Carcinoma, Non-Small-Cell Lung* / diagnosis
  • Carcinoma, Non-Small-Cell Lung* / genetics
  • Carcinoma, Non-Small-Cell Lung* / pathology
  • Cell-Free Nucleic Acids* / genetics
  • DNA Mutational Analysis / methods
  • Humans
  • Liquid Biopsy
  • Lung Neoplasms* / diagnosis
  • Lung Neoplasms* / genetics
  • Lung Neoplasms* / pathology
  • Mutation
  • Proto-Oncogene Proteins p21(ras) / genetics
  • Real-Time Polymerase Chain Reaction

Substances

  • Cell-Free Nucleic Acids
  • KRAS protein, human
  • Proto-Oncogene Proteins p21(ras)