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<p>Early detection of minimal residual disease (MRD) by liquid biopsy could enable earlier relapse identification in early-stage breast cancer (BC), but most approaches are single-analyte. We prospectively studied 58 patients with early-stage BC, including HR+/HER2−, triple-negative, and HER2+ subtypes, treated with neoadjuvant chemotherapy or primary surgery plus adjuvant therapy. Patient-specific droplet digital PCR assays were designed for both ctDNA and CTCs analysis, with one truncal tumour mutation tracked per patient for detection in both analytes, in serial high-volume blood samples collected at diagnosis before treatment, approximately 1 month after surgery, and at 6-month intervals during follow-up in patients at high risk of relapse. We developed a composite Liquid biopsy Minimal Residual Disease (L-MRD) score integrating six clinical and molecular variables. At baseline (pre-treatment), ctDNA and/or CTCs were detected in 67.2% of patients and remained positive post-surgery in 53.6%. During follow-up, MRD detection anticipated all relapses (100% sensitivity; median lead time 27.95 months) and the L-MRD score stratified 5-year recurrence risk (2.2% vs 41.6%; HR = 6.6; <i>P</i> = 0.04) with strong performance (AUC = 0.891; NPV = 97.8%). This dual-analyte, longitudinal MRD strategy improves relapse prediction and supports further research regarding the clinical utility of personalised surveillance in early-stage BC.</p>

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Dual ctDNA and CTCs analysis for minimal residual disease detection and relapse monitoring in early-stage breast cancer

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年5月20日

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  • Jesús Velasco-Suelto,
  • María Elena Quirós-Ortega,
  • Javier Pascual,
  • Ana Godoy-Ortiz,
  • Alfonso Alba-Bernal,
  • Esperanza López-López,
  • María Emilia Domínguez-Recio,
  • Begoña Jiménez-Rodríguez,
  • Jesús Peralta-Linero,
  • Estefanía Bellagarza-García,
  • Laura Troyano-Ramos,
  • Guadalupe Garrido-Ruiz,
  • M. Isabel Hierro-Martín,
  • María Victoria Ortega,
  • Alicia Garrido-Aranda,
  • Rocío Lavado-Valenzuela,
  • Martina Álvarez,
  • Emilio Alba,
  • Iñaki Comino-Méndez

摘要

Early detection of minimal residual disease (MRD) by liquid biopsy could enable earlier relapse identification in early-stage breast cancer (BC), but most approaches are single-analyte. We prospectively studied 58 patients with early-stage BC, including HR+/HER2−, triple-negative, and HER2+ subtypes, treated with neoadjuvant chemotherapy or primary surgery plus adjuvant therapy. Patient-specific droplet digital PCR assays were designed for both ctDNA and CTCs analysis, with one truncal tumour mutation tracked per patient for detection in both analytes, in serial high-volume blood samples collected at diagnosis before treatment, approximately 1 month after surgery, and at 6-month intervals during follow-up in patients at high risk of relapse. We developed a composite Liquid biopsy Minimal Residual Disease (L-MRD) score integrating six clinical and molecular variables. At baseline (pre-treatment), ctDNA and/or CTCs were detected in 67.2% of patients and remained positive post-surgery in 53.6%. During follow-up, MRD detection anticipated all relapses (100% sensitivity; median lead time 27.95 months) and the L-MRD score stratified 5-year recurrence risk (2.2% vs 41.6%; HR = 6.6; P = 0.04) with strong performance (AUC = 0.891; NPV = 97.8%). This dual-analyte, longitudinal MRD strategy improves relapse prediction and supports further research regarding the clinical utility of personalised surveillance in early-stage BC.