Integrated Molecular Profiling Improves Subtype Classification and Reveals Inherited Susceptibility in Medulloblastoma: Insights From a Real-World Cohort.

Germline variants in Fanconi anemia pathway genes (FANCL, FANCC, NBN) were significantly enriched among patients with Group 3 and Group 4 medulloblastoma, suggesting a potentially inherited susceptibility component.

Furthermore, 52.7% of patients harbored potentially actionable somatic mutations, supporting the feasibility of precision-targeted therapeutic approaches.

Notably, we identified one case of WNT-subtype medulloblastoma harboring a homozygous deletion of CDKN2A, which was associated with unusually poor clinical outcome.