Circulating tumor DNA precision oncology enables effective and sensitive molecular diagnostics and actionable target detection in pediatric solid tumors - the INFORM experience.
Blood tests detecting tumor DNA in children with cancer can now identify 95% of cases with high accuracy, enabling earlier monitoring and personalized treatment selection.
Within the INFORM multicenter pediatric precision oncology registry, liquid biopsies from 130 patients were prospectively analyzed with low-coverage WGS, WES, and targeted panel sequencing using protocols optimized for pediatric samples with low tumor mutational burden. The optimized in silico ctDNA score combining fragment length and copy-number alterations achieved 95% sensitivity/specificity for tumor detection in 93% of patients, with assay selection guidance based on tumor entity—enabling plasma-based monitoring and identification of druggable molecular targets.
What the study was
- Study design
- prospective_multicenter_observational
- Population
- Pediatric high-risk solid tumor patients in INFORM multicenter precision oncology registry (n=130)
- Sample size
- 130
- Category
- Early Detection
- Maturity
- Validated
- Journal
- Genome Med
Why it surfaced
First prospective multicenter ctDNA validation study in pediatric solid tumors (Genome Medicine), demonstrating 93-95% accurate plasma-based tumor detection and providing entity-specific assay selection guidance for a population where minimally invasive molecular diagnostics are critically needed and historically underdeveloped.
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