Clinical implementation of targeted panel sequencing for paediatric tumours: findings and outcomes in a Southeast Asian cohort.
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Comprehensive genomic profiling of paediatric tumours has shown promise in guiding precision oncology approaches. However, the clinical utility of targeted sequencing panels in routine practice remains unclear. The results of such testing have not been reported in Southeast Asia. We implemented the AmpliSeq Childhood Cancer Panel for prospective molecular profiling of 130 paediatric patients with various solid tumours. The panel detects single nucleotide variants, gene fusions and amplifications. Clinical impact was assessed through a molecular tumour board. Clinically significant variants were identified in 52.8% of patients, with diagnostic, therapeutic and prognostic relevance in 52%, 30% and 18% of cases, respectively. Central nervous system (CNS) tumours showed the highest yield (70%). Seven patients (5.7%) received targeted therapy based on the sequencing results. The panel was particularly useful for CNS tumours, fusion-driven sarcomas, neuroblastomas and DICER1-associated tumours. Limitations included the need for additional testing in some cases and the inability to distinguish germline from somatic variants. In conclusion, targeted panel sequencing is feasible and clinically useful for paediatric tumour profiling, with the highest yield in CNS tumours. While the proportion of patients receiving targeted therapy was relatively low, the genetic information obtained is valuable for biomarker-directed trials and advancing precision oncology in paediatric cancers.