ArticleJCO precision oncology2026
Clinical Liquid Biopsy Testing for Detection of Actionable Genomic Alterations in Children and Young Adults With Advanced Solid Tumors on the GAIN Study.
Article in JCO precision oncology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
purposeGiven the paucity of data regarding circulating tumor DNA (ctDNA) as a modality to guide diagnosis and treatment for children with advanced solid tumors, we conducted a prospective study to characterize the frequency and clinical impact of diagnostic and targetable genomic variants identified by clinical ctDNA testing.
methodsOur study cohort included 36 children and young adults with advanced solid tumors enrolled in the prospective, multicenter molecular profiling GAIN study. Tumor samples underwent next-generation sequencing, and serial blood samples were analyzed by the FoundationOne Liquid Companion Diagnostic ctDNA test. We evaluated the prevalence of ctDNA in our cohort using ctDNA tumor fraction (TF), the prevalence of genomic variants in ctDNA compared with those in tumor tissue stratified by ctDNA TF, the association between ctDNA TF and radiographic disease response, and the clinical impact of ctDNA testing.
resultsIn our cohort, 67% of patients had at least one liquid biopsy sample with detectable ctDNA by TF. Most patients (72%) had detection of a clinically relevant genomic alteration in at least one ctDNA sample. Most (85%) short variants and translocations identified in tissue were present in ctDNA when TF ≥ 1%, with variation by tumor type. We demonstrated statistically significant differences in absolute ctDNA TF changes among patients with radiographic disease progression (mean, +12.2%, standard deviation, 18.7%) and response (mean, -23.4%, standard deviation, 30.6%),
conclusionctDNA is prevalent across a wide range of advanced pediatric solid tumors, identifies clinically important variants, changes with radiographic disease burden, and has a clinical impact.
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