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Sensitive and Specific Analyses of Colorectal Cancer Recurrence through Multiplex superRCA Mutation Detection in
Emma Sandberg1, Luís Nunes1, Per-Henrik Edqvist1
1Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, SE-751 85 Uppsala, Sweden.
Cancers
|February 10, 2024
Summary
Multiplex superRCA assays effectively detect circulating tumor DNA (ctDNA) mutations for monitoring colorectal cancer (CRC) recurrence. Dynamic changes in mutant allele frequency (MAF) were observed in patients experiencing clinical relapse, aiding in disease surveillance.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Circulating tumor DNA (ctDNA) mutation analysis is crucial for monitoring colorectal cancer (CRC) recurrence.
- Low ctDNA fractions in cell-free DNA (cfDNA) necessitate highly sensitive detection methods.
Purpose of the Study:
- To evaluate the sensitivity and applicability of a multiplex superRCA assay for detecting ctDNA mutations in CRC patients.
- To assess the utility of this assay in monitoring disease recurrence through dynamic changes in mutant allele frequency (MAF).
Main Methods:
- Plasma cfDNA and tumor/normal tissue genomic DNA (gDNA) from 25 CRC patients were analyzed using multiplex superRCA.
- Assay sensitivity was determined, with a practical detection limit of approximately 0.01% MAF for cfDNA.
Main Results:
- Hotspot mutations identified in tumor gDNA were detectable in plasma cfDNA at diagnosis in 17 of 19 patients.
- Increasing MAF was observed in four patients who later experienced clinical relapse.
- The multiplex superRCA assay demonstrated a lower limit of detection around 10^-5 for sequence variants.
Conclusions:
- Multiplex superRCA assays are suitable for monitoring CRC patients by analyzing cfDNA hotspot mutations.
- Dynamic changes in MAF detected via this method correlate with clinical relapse, offering a valuable tool for disease surveillance.
