Quantitative ctDNA Profiling of RAS Mutations as a Prognostic Biomarker in Metastatic Colorectal Cancer

Circulating tumor DNA (ctDNA) analysis offers a non-invasive approach to molecular profiling. While <i>RAS</i> mutations are well-established predictive biomarkers in metastatic colorectal cancer (mCRC), the prognostic value of their variant allele frequency (VAF) remains unclear. We retrospectively analyzed individual patient data with mCRC who underwent ctDNA testing using the FoundationOne<sup>®</sup> Liquid CDx assay. The primary objective was to determine the optimal <i>RAS</i> VAF cutoff for overall survival (OS) prognostication. Between November 2020 and July 2024, 282 patients were enrolled. Among 265 eligible patients, 134 (50.6%) were ct<i>RAS</i> mutant, 25 (9.4%) ct<i>BRAF</i><sup>V600E</sup> mutant, and 106 (40.0%) were ct<i>RAS/BRAF</i> wild-type. A <i>RAS</i> VAF threshold of 5% yielded the highest prognostic discrimination for OS (HR = 2.41; 95% CI 1.65-3.55; <i>p</i> < 0.0001; C-index = 0.601). ct<i>RAS</i>-high mutant tumors (VAF ≥ 5%) were associated with synchronous metastatic disease, multiple metastatic sites, higher blood tumor mutational burden, and elevated tumor fraction. ct<i>RAS</i>-low mutant tumors (VAF < 5%) were more frequently metachronous, presented with a single metastatic site, and showed liver involvement. High <i>RAS</i> VAF in ctDNA is a strong and independent prognostic marker for OS in mCRC. Quantitative ctDNA profiling may enhance risk stratification and guide personalized management strategies.

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Journal
International Journal of Molecular Sciences
Published
2025-12-19
DOI
https://doi.org/10.3390/ijms27010008
Primary Topic
Cancer Genomics and Diagnostics
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article
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article

Quantitative ctDNA Profiling of RAS Mutations as a Prognostic Biomarker in Metastatic Colorectal Cancer

Benoist Chibaudel, Ida Iurisci, Hubert Richa, Hélène Marijon et al.
International Journal of Molecular Sciences
Cancer Genomics and Diagnostics
article

Quantitative ctDNA Profiling of RAS Mutations as a Prognostic Biomarker in Metastatic Colorectal Cancer

Benoist Chibaudel, Ida Iurisci, Hubert Richa, Hélène Marijon, O. Oberlin, Linda Dainese, Pascal Pujol, Perrine Goyer, Jean‐Baptiste Bachet, Nathalie Perez‐Staub, Élisabeth Carola, Alain Tolédano, Aimery de Gramont, A. Saget, Honorine Gervais, Hamid Mekranter
article en

Abstract

Circulating tumor DNA (ctDNA) analysis offers a non-invasive approach to molecular profiling. While <i>RAS</i> mutations are well-established predictive biomarkers in metastatic colorectal cancer (mCRC), the prognostic value of their variant allele frequency (VAF) remains unclear. We retrospectively analyzed individual patient data with mCRC who underwent ctDNA testing using the FoundationOne<sup>®</sup> Liquid CDx assay. The primary objective was to determine the optimal <i>RAS</i> VAF cutoff for overall survival (OS) prognostication. Between November 2020 and July 2024, 282 patients were enrolled. Among 265 eligible patients, 134 (50.6%) were ct<i>RAS</i> mutant, 25 (9.4%) ct<i>BRAF</i><sup>V600E</sup> mutant, and 106 (40.0%) were ct<i>RAS/BRAF</i> wild-type. A <i>RAS</i> VAF threshold of 5% yielded the highest prognostic discrimination for OS (HR = 2.41; 95% CI 1.65-3.55; <i>p</i> < 0.0001; C-index = 0.601). ct<i>RAS</i>-high mutant tumors (VAF ≥ 5%) were associated with synchronous metastatic disease, multiple metastatic sites, higher blood tumor mutational burden, and elevated tumor fraction. ct<i>RAS</i>-low mutant tumors (VAF < 5%) were more frequently metachronous, presented with a single metastatic site, and showed liver involvement. High <i>RAS</i> VAF in ctDNA is a strong and independent prognostic marker for OS in mCRC. Quantitative ctDNA profiling may enhance risk stratification and guide personalized management strategies.

International Journal of Molecular SciencesVol. 27(1)
Sorbonne Université (FR), Centre Hospitalier Universitaire de Montpellier (FR), Pitié-Salpêtrière Hospital (FR), Centre Hospitalier du Mans (FR), Institut Hospitalier Franco Britannique (FR), Clinique Hartmann (FR), Monal Group (France) (FR), Centre Hospitalier Laennec (FR), Cabinet Office (JP)
Openalex Percentile: Top 50%
Cancer Genomics and Diagnostics
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