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Updated: Jun 16, 2025
Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
Published on: June 8, 2019
Ultra-rapid droplet digital PCR enables intraoperative tumor quantification
Zachary R Murphy1, Emilia C Bianchini1, Andrew Smith2
1Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY, USA; Departments of Pediatrics and Neuroscience & Physiology, Institute for Systems Genetics, Laura and Isaac Perlmutter Cancer Center, and Neuroscience Institute, New York University Grossman School of Medicine, New York, NY, USA.
Ultra-Rapid droplet digital PCR (UR-ddPCR) provides intraoperative molecular-genetic analysis in 15 minutes. This fast, sensitive method aids in tumor margin assessment and guides surgical decisions for improved patient outcomes.
Area of Science:
- Oncology
- Molecular Diagnostics
- Surgical Pathology
Background:
- Tumor diagnosis and treatment heavily rely on molecular-genetic data.
- Current intraoperative molecular analysis is not rapid enough, hindering real-time surgical guidance.
- Accurate assessment of tumor cell burden at surgical margins is crucial for effective resection.
Purpose of the Study:
- To introduce a novel technology for ultra-rapid molecular-genetic analysis during surgery.
- To enable fast and accurate quantification of tumor mutation burdens in tissue samples.
- To facilitate intraoperative tumor margin assessment and guide surgical resections.
Main Methods:
- Development and implementation of Ultra-Rapid droplet digital PCR (UR-ddPCR) workflow.
- Achieving a tissue-to-result turnaround time of 15 minutes for mutation burden measurement.
- Demonstration of UR-ddPCR assays for IDH1 R132H and BRAF V600E mutations.
Main Results:
- UR-ddPCR successfully quantified mutation burdens in tissue samples within 15 minutes.
- Intraoperative feasibility demonstrated in 22 brain tumor cases.
- Combined UR-ddPCR and Raman histology accurately estimated tumor cell densities at margins ( <5 tumor cells/mm²).
- UR-ddPCR measurements showed high correlation with standard ddPCR (R² = 0.995).
Conclusions:
- UR-ddPCR enables intraoperative molecular-genetic assays with unprecedented speed and sensitivity.
- This technology facilitates point-of-care diagnostics and molecularly guided surgeries.
- The method has the potential to significantly improve clinical outcomes in cancer surgery.
