Integrative Genomic Profiling of Pediatric Solid Tumors Reveals Clinically Relevant Variants and Chromosomal Arm Aneuploidies Signatures.
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BACKGROUND: Pediatric malignancies have emerged as the leading cause of disease-related mortality in children, exhibiting distinct etiological and molecular characteristics compared to adult cancers. Despite advances in genomic profiling, the molecular landscape of pediatric solid tumors, particularly in Chinese populations, remains undercharacterized. METHODS: Through targeted next-generation sequencing of 94 pediatric solid tumors, we systematically analyzed single nucleotide variants, short insertions/deletions, copy number variations, and chromosomal arm-level aneuploidy, with particular emphasis on subtype-specific genomic architectures. RESULTS: Tumor relevant variants were identified in 74.5% of cases, comprising germline predisposition variants (17.0%) with higher prevalence in blastomas and somatic mutations (71.3%). Remarkably, 58.5% harbored therapeutic targets or guideline-recommended biomarkers, providing molecular rationales for precision therapeutic strategies. Key findings revealed tumor-type specific chromosomal instability patterns: sarcoma-characteristic chromosome 8 gains, neuroblastoma-enriched 17q amplifications, and TP53 mutations co-occurring with 1q gains-a profile divergent from adult malignancies. CONCLUSION: This study establishes the most comprehensive genomic atlas of Chinese pediatric solid tumors to date, delineating subtype-specific oncogenic variants and chromosomal instability signatures. Our findings advance the understanding of childhood cancer pathogenesis and provide a framework for molecularly guided clinical decision-making.