Blood-based RAS mutation testing: concordance with tissue-based RAS testing and mutational changes on progression

Future Oncol. 2020 Oct;16(28):2177-2189. doi: 10.2217/fon-2020-0523. Epub 2020 Jul 27.

Abstract

Aim: To determine the concordance between plasma and tissue RAS mutation status in metastatic colorectal cancer patients to gauge whether blood-based testing is a viable alternative. We also evaluated the change in mutation status on progression. Materials/methods: RAS testing was performed on plasma from patients commencing first-line therapy (OncoBEAM™ RAS CEIVD kit). Results were then compared with formalin-fixed paraffin embedded tumor samples. Results: The overall percentage agreement (concordance) was 86.0% (86/100), which demonstrates that blood-based testing is an alternative to tissue-based testing. Reproducibility was 100% between three laboratories and 20% showed changes in their RAS mutational status on progression. Conclusion: These results show good concordance between tissue and plasma samples and suggest the need for longitudinal plasma testing during treatment to guide management decisions.

Keywords: BEAMing; RAS; circulating-free DNA; colon cancer; ctDNA; mCRC.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Alleles
  • Biomarkers, Tumor*
  • Circulating Tumor DNA
  • DNA Mutational Analysis / methods
  • DNA Mutational Analysis / standards
  • Disease Progression
  • Female
  • Genes, ras*
  • Humans
  • Liquid Biopsy / methods
  • Liquid Biopsy / standards
  • Male
  • Middle Aged
  • Mutation*
  • Neoplasm Metastasis
  • Neoplasm Staging
  • Neoplasms / blood
  • Neoplasms / diagnosis*
  • Neoplasms / genetics*
  • Neoplasms / therapy
  • Time-to-Treatment

Substances

  • Biomarkers, Tumor
  • Circulating Tumor DNA