ArticleNature communications2024
Whole genome and transcriptome integrated analyses guide clinical care of pediatric poor prognosis cancers.
Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The prevalence of pathogenic variants in the BMPR2 gene in patients with the idiopathic pulmonary arterial hypertension in the Russian population: sequencing data and meta-analysis.Respiratory research · 2025Pooled it
- High clinical utility of comprehensive multi-omic molecular profiling of rare and hard-to-diagnose pediatric tumors.Research square · 2026Article
- High clinical utility of comprehensive multi-omic molecular profiling of rare and hard-to-diagnose pediatric tumors.medRxiv : the preprint server for health sciences · 2026Article
- Impact of precision oncology research in pediatric poor prognosis cancer: patient, parent and healthcare provider perspectives.BMC cancer · 2026Article
- "I don't think I even thought of myself" A mixed-methods study of family experiences of trio germline whole genome sequencing in newly diagnosed childhood cancer.British journal of cancer · 2026Article
- Real-world clinical utility of tumor whole-genome sequencing in solid cancers.Nature medicine · 2026Article
- Delivering Trio Germline Whole Genome Sequencing to Patients Newly Diagnosed With Childhood Cancer: Healthcare Professionals' Perspectives of the PREDICT Study.Cancer medicine · 2025Article
- A New Approach of DetectingCancers · 2024Article
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Authors and funding
31 authors.
Funding
Abstract
The role for routine whole genome and transcriptome analysis (WGTA) for poor prognosis pediatric cancers remains undetermined. Here, we characterize somatic mutations, structural rearrangements, copy number variants, gene expression, immuno-profiles and germline cancer predisposition variants in children and adolescents with relapsed, refractory or poor prognosis malignancies who underwent somatic WGTA and matched germline sequencing. Seventy-nine participants with a median age at enrollment of 8.8 y (range 6 months to 21.2 y) are included. Germline pathogenic/likely pathogenic variants are identified in 12% of participants, of which 60% were not known prior. Therapeutically actionable variants are identified by targeted gene report and whole genome in 32% and 62% of participants, respectively, and increase to 96% after integrating transcriptome analyses. Thirty-two molecularly informed therapies are pursued in 28 participants with 54% achieving a clinical benefit rate; objective response or stable disease ≥6 months. Integrated WGTA identifies therapeutically actionable variants in almost all tumors and are directly translatable to clinical care of children with poor prognosis cancers.
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