High clinical utility of comprehensive multi-omic molecular profiling of rare and hard-to-diagnose pediatric tumors.
In 123 children with rare or diagnostically challenging tumors, comprehensive multi-omic profiling frequently clarified diagnosis or management and was associated with objective response or prolonged stable disease in 16 of 18 evaluable patients receiving precision-guided therapy, with diagnostic findings also assessed in an independent 41-patient cohort.
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In 123 children with rare or diagnostically challenging tumors, comprehensive multi-omic profiling frequently clarified diagnosis or management and was associated with objective response or prolonged stable disease in 16 of 18 evaluable patients receiving precision-guided therapy, with diagnostic findings also assessed in an independent 41-patient cohort.
Research significance
The record provides observational evidence that multi-omic profiling can identify diagnostic and treatment-relevant findings in selected pediatric tumors; it supports—but does not prove—the hypothesis that routinely integrating such profiling could improve treatment selection and outcomes compared with conventional evaluation alone.
Source abstract
The role of comprehensive genomic profiling for therapeutic decision-making is established in high-risk pediatric cancers, but its utility in rare and diagnostically challenging tumors is unclear. Here we report 123 non-high-risk patients enrolled in the Australian ZERO Childhood Cancer Program for diagnostic uncertainty, clinician request to address a specific molecular query, or other rare tumors. Comprehensive multi-omic profiling led to a change in diagnosis in 17.9% (22/123) of patients, with overall diagnostic utility in 35% (43/123). Molecular queries were resolved in 97.6% (40/41). Multi-omic results informed conventional management in 20.3% (25/123). Precision-guided therapy was recommended in 67.5% (83/123), and administered in 36.1% (30/83), with an objective response or prolonged (>6 months) stable disease in 88.9% of evaluable cases (16/18). Findings were confirmed in an independent cohort from the Canadian KiCS program (n=41). In conclusion, in rare and diagnostically challenging pediatric tumors, multi-omic profiling improved diagnostic accuracy and informed clinical management, supporting its integration into routine care.