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Cancer Genomics and Diagnostics / Genomics and Rare Diseases · Journal article
Pediatric Research · August 13, 2026
Early or partial results. Treat as a signal, not a conclusion.
This is a single-centre retrospective genomic profiling study of 97 paediatric cancer patients using NGS, reporting that recurrent variants were detected in DNA repair and cell-cycle genes and that molecular features differed from international cohorts. The authors claim ~25% benefited from NGS-informed therapy, but the study provides no comparative outcome data, control arm, or rigorous definition of clinical benefit, making it descriptive rather than evidence of practice-changing utility.
Retrospective cohort study. Paediatric patients with cancer who underwent NGS testing at Sheba Medical Center; specific eligibility criteria not stated.. Intervention: Next-generation sequencing (NGS) and genomic profiling. n = 97. Sheba Medical Center (Israel).
97 paediatric cancer patients underwent NGS analysis between 2016 and 2021 Recurrent somatic variants identified in genes involved in DNA repair, cell cycle regulation, and signaling pathways Several variants reclassified from uncertain significance to pathogenic based on updated genomic knowledge
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The study suggests NGS may identify actionable mutations and inform therapy selection in paediatric cancers, but without outcome comparisons or quantified clinical benefit measures, clinicians cannot yet judge whether routine genomic profiling at diagnosis alters survival or other hard endpoints.
Single-centre retrospective analysis of modest sample with descriptive findings and no control group; clinical utility claimed but outcomes data not quantified, making it exploratory rather than confirmatory.
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Quoted from the source exactly as published.
The study suggests NGS may identify actionable mutations and inform therapy selection in paediatric cancers, but without outcome comparisons or quantified clinical benefit measures, clinicians cannot yet judge whether routine genomic profiling at diagnosis alters survival or other hard endpoints.
Graded across the dimensions that decide whether you should act, each from what the source actually supports. There is no single score, and where a dimension was not assessed it says so.
Abstract Background Cancer is the leading cause of disease-related mortality in children. Next-generation sequencing (NGS) has emerged as a critical tool in precision oncology, enabling the identification of somatic genomic alterations that may inform diagnosis, prognosis, and therapy. This study evaluated the clinical utility of NGS in Israeli pediatric cancer patients. Methods We conducted a retrospective analysis of pediatric patients with cancer who underwent NGS at Sheba Medical Center between 2016 and 2021. Bioinformatics pipelines were applied to detect and annotate genomic variants. Medical records were reviewed to correlate molecular findings with treatment modifications and clinical outcomes. Results A total of 97 patients were analyzed, revealing a heterogeneous spectrum of somatic alterations. Recurrent variants were observed in genes involved in DNA repair, cell cycle regulation, and signaling pathways. Several variants initially classified as of uncertain significance were subsequently reclassified as pathogenic in light of updated genomic knowledge. Comparative analysis demonstrated unique molecular features within the Israeli pediatric cancer population relative to international cohorts. Conclusions Comprehensive genomic profiling provides clinically meaningful insights in pediatric oncology. NGS facilitates the identification of actionable variants, supports personalized therapeutic strategies, and underscores the importance of continued genomic research and collaborative efforts in improving outcomes for children with cancer. Impact NGS identifies actionable mutations in pediatric cancers, with known mutation patterns characterized in large international cohorts. This study adds novel insights into the mutation landscape of pediatric cancer patients. Nearly 25% benefited from NGS-informed therapy, supporting routine genomic profiling at diagnosis.
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