In a recent study, molecular biomarkers were identified from an international discovery set of 673 medulloblastoma cases from the Medulloblastoma Advanced Genomics International Consortium. Risk stratification models were designed based on combined clinical and cytogenetic biomarkers identified in multivariable Cox proportional hazards analyses. Candidate biomarkers were tested using fluorescence in situ hybridization (FISH) on a nonoverlapping medulloblastoma tissue microarray, with validation of the risk stratification models in a validation set of cases treated at a single institution (n = 453). It was found that profiling six FISH biomarkers—GLI2, MYC, chromosome 11, chromosome 14, 17p, and 17q—on formalin-fixed parafin-embedded tissues permitted reliable and reproducible identification of very low-risk and very high-risk patients within the SHH, Group 3, and Group 4 medulloblastoma subgroups.
