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Comprehensive genetic profiling using tissue and blood in locally advanced tumors
Kenji Fujiyoshi1, Rie Sugihara1, Naoki Miyamoto2
1Department of Surgery, Kurume University School of Medicine, Kurume, Fukuoka 8300011, Japan.
Oncology Reports
|August 8, 2025
Summary
Comprehensive genomic profiling (CGP) using circulating tumor DNA (ctDNA) shows potential for early cancer recurrence detection. Concordance of specific gene variants in postoperative blood may predict recurrence, but larger studies are needed.
Area of Science:
- Oncology
- Genomics
- Molecular Diagnostics
Background:
- Comprehensive genomic profiling (CGP) aids cancer diagnosis and treatment.
- Circulating tumor DNA (ctDNA) analysis offers a noninvasive blood-based method for CGP.
- Tumor tissue CGP is established, but ctDNA analysis is emerging.
Purpose of the Study:
- To evaluate the concordance of somatic variants between tumor tissue and ctDNA.
- To explore the potential of ctDNA analysis for early detection of cancer recurrence.
- To assess the utility of CGP in locally advanced cancers.
Main Methods:
- Pilot study involving eight patients with locally advanced cancers (breast, lung, pancreatic, head and neck).
- Analysis of somatic variants in paired tumor tissue and ctDNA samples (pre- and post-resection).
- Evaluation of concordance rates between tissue and ctDNA for various genes.
Main Results:
- High overall concordance (94.2%) between tissue and postoperative blood across all genes.
- Low concordance (4.76%) for genes with identified somatic variants.
- One case (patient 8) showed concordant MAP2K1 variant in tissue and postoperative ctDNA, followed by lung recurrence.
Conclusions:
- Detecting matching somatic variants in postoperative ctDNA and tumor tissue may indicate cancer recurrence.
- ctDNA analysis shows promise for noninvasive monitoring of treatment response and recurrence.
- Limited sample size necessitates further research with larger cohorts and robust designs.
