Genome-wide analyses of cell-free DNA for therapeutic monitoring of patients with pancreatic cancer

Sci Adv. 2025 May 23;11(21):eads5002. doi: 10.1126/sciadv.ads5002. Epub 2025 May 21.

Abstract

Determining response to therapy for patients with pancreatic cancer can be challenging. We evaluated methods for assessing therapeutic response using cell-free DNA (cfDNA) in plasma from patients with metastatic pancreatic cancer in the CheckPAC trial (NCT02866383). Patients were evaluated before and after initiation of therapy using tumor-informed plasma whole-genome sequencing (WGMAF) and tumor-independent genome-wide cfDNA fragmentation profiles and repeat landscapes (ARTEMIS-DELFI). Using WGMAF, molecular responders had a median overall survival (OS) of 319 days compared to 126 days for nonresponders [hazard ratio (HR) = 0.29, 95% confidence interval (CI) = 0.11-0.79, P = 0.011]. For ARTEMIS-DELFI, patients with low scores after therapy initiation had longer median OS than patients with high scores (233 versus 172 days, HR = 0.12, 95% CI = 0.046-0.31, P < 0.0001). We validated ARTEMIS-DELFI in patients with pancreatic cancer in the PACTO trial (NCT02767557). These analyses suggest that noninvasive mutation and fragmentation-based cfDNA approaches can identify therapeutic response of individuals with pancreatic cancer.

MeSH terms

  • Aged
  • Biomarkers, Tumor* / blood
  • Biomarkers, Tumor* / genetics
  • Cell-Free Nucleic Acids* / blood
  • Cell-Free Nucleic Acids* / genetics
  • Female
  • Genome-Wide Association Study*
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Pancreatic Neoplasms* / blood
  • Pancreatic Neoplasms* / drug therapy
  • Pancreatic Neoplasms* / genetics
  • Pancreatic Neoplasms* / mortality
  • Pancreatic Neoplasms* / pathology
  • Pancreatic Neoplasms* / therapy
  • Whole Genome Sequencing

Substances

  • Cell-Free Nucleic Acids
  • Biomarkers, Tumor