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Identification of Actionable Mutations in Metastatic Castration-Resistant Prostate Cancer Through Circulating Tumor
Wensi Tao1, Amanda Sabel2, R Daniel Bonfil1
1Department of Medical Education, Dr. Kiran C. Patel College of Allopathic Medicine, Nova Southeastern University, Fort Lauderdale, FL 33328, USA.
Current Oncology (Toronto, Ont.)
|December 24, 2025
Summary
Circulating tumor DNA (ctDNA) analysis offers a minimally invasive way to profile metastatic castration-resistant prostate cancer (mCRPC). This approach detects actionable mutations, guiding personalized therapy selection and monitoring treatment response.
Area of Science:
- Oncology
- Genomics
- Molecular Diagnostics
Background:
- Metastatic castration-resistant prostate cancer (mCRPC) requires genomic profiling to guide treatment.
- Circulating tumor DNA (ctDNA) analysis provides a minimally invasive method for this profiling.
- Actionable mutations in HRR genes and MSI-high/MMRd status inform therapy choices.
Purpose of the Study:
- To review the current evidence on ctDNA-based genotyping in mCRPC.
- To highlight actionable mutations and corresponding targeted therapies.
- To discuss technical and analytical considerations for clinical implementation.
Main Methods:
- Review of current literature on ctDNA analysis in mCRPC.
- Identification of actionable mutations (e.g., HRR gene alterations, MSI-high/MMRd).
- Summary of FDA-approved liquid biopsy assays and targeted therapies (PARPIs, pembrolizumab).
Main Results:
- ctDNA analysis detects actionable mutations in approximately 20% of mCRPC patients (HRR genes like BRCA1/2, ATM).
- These mutations are targets for PARP inhibitors (PARPIs) and potentially ARSI combinations.
- MMRd/MSI-high tumors may respond to immune checkpoint inhibitors like pembrolizumab.
- Liquid biopsy assays are valuable when tissue biopsies are insufficient.
Conclusions:
- ctDNA profiling offers a comprehensive view of tumor heterogeneity and molecular evolution.
- It enables real-time detection of mutations for personalized treatment selection in mCRPC.
- Serial ctDNA monitoring aids in assessing therapeutic response and guiding treatment adjustments.
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