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Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
Published on: June 8, 2019
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Comprehensive circulating tumor DNA mutation profiling via CAPP-Seq liquid biopsy for cervical cancer
Naoyuki Iwahashi1, Tomoko Noguchi2, Kazuko Sakai3
1Department of Obstetrics and Gynecology, School of Medicine, Wakayama Medical University, 811-1 Kimiidera, Wakayama, 641-8509, Japan. naoyuki@wakayama-med.ac.jp.
International Journal of Clinical Oncology
|March 10, 2026
Summary
Liquid biopsy using circulating tumor DNA (ctDNA) shows promise for cervical cancer profiling. This minimally invasive approach successfully detected genomic alterations in 87% of patients, aiding in molecular characterization and disease monitoring.
Area of Science:
- Oncology
- Genomics
- Molecular Diagnostics
Background:
- Liquid biopsy, utilizing circulating tumor DNA (ctDNA), offers a minimally invasive method for identifying tumor-specific genomic alterations.
- While extensively studied in solid tumors, ctDNA analysis applications in cervical cancer are less established.
- Cancer Personalized Profiling by Deep Sequencing (CAPP-Seq) is a sensitive technique for ctDNA analysis, employing molecular barcoding and digital error suppression.
Purpose of the Study:
- To assess the feasibility of ctDNA-based mutation profiling in cervical cancer patients.
- To evaluate the efficacy of the CAPP-Seq platform for detecting genomic alterations in cervical cancer.
- To explore the potential of ctDNA analysis for molecular characterization and monitoring of cervical cancer.
Main Methods:
- Plasma samples from 38 cervical cancer patients were analyzed using the CAPP-Seq platform.
- The study involved sequencing ctDNA to identify somatic gene alterations, including non-synonymous mutations and copy number gains.
- Longitudinal ctDNA profiles were analyzed in a subset of patients undergoing chemoradiotherapy.
Main Results:
- Genomic alterations were detected in 87% (33/38) of cervical cancer patients across various stages and histological subtypes (squamous cell carcinoma and adenocarcinoma).
- PIK3CA mutations were the most frequent (34%), and copy number gains in EGFR, MET, and ERBB2 were observed.
- A hypermutated phenotype was noted in 50% of patients, with ctDNA changes correlating with treatment response in a subset of patients.
Conclusions:
- ctDNA analysis via CAPP-Seq is a feasible and effective method for profiling cervical cancer, achieving a high detection rate of genomic alterations.
- This minimally invasive approach holds potential for the molecular characterization and monitoring of cervical cancer.
- ctDNA profiling can provide valuable insights into tumor biology and treatment response in cervical cancer patients.
