Detection of circulating tumor DNA in colorectal cancer patients using a methylation-specific droplet digital PCR multiplex.

Journal: Molecular oncology

This study developed a methylation-specific droplet digital PCR (MS-ddPCR) multiplex assay to detect circulating tumor DNA (ctDNA) in colorectal cancer (CRC) patients using tumor-specific and tissue-conserved methylation markers.

The assay demonstrated:

  • High specificity: 96.7%
  • Sensitivity in detecting ctDNA: 64.4% in localized CRC and 89.2% in metastatic CRC (mCRC) patients

Importantly, changes in ctDNA levels after the first treatment cycle correlated significantly with progression-free survival (PFS) and overall survival (OS) in mCRC patients.

Patients classified by ctDNA response criteria showed marked differences in outcomes:

  • Good responders: notably longer PFS and OS
  • Poor responders and those with progressive disease: shorter PFS and OS

This cost-effective and sensitive assay offers a valuable tool for:

  • Early treatment response monitoring
  • Prognostication
  • Guiding personalized therapy in CRC, especially in metastatic cases

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