Molecular characterisation defines clinically-actionable heterogeneity within Group 4 medulloblastoma and improves disease risk-stratification.

ABSTRACT: Group 4 tumours (MB_Grp4) represent the majority of non-WNT/non-SHH medulloblastomas. Their clinical course is poorly predicted by current risk-factors. MB_Grp4 molecular substructures have been identified (e.g. subgroups/cytogenetics/mutations), however their inter-relationships and potential to improve clinical sub-classification and risk-stratification remain undefined. We comprehensively characterised the paediatric MB_Grp4 molecular landscape and determined its utility to improve clinical management. A clinically-annotated discovery cohort (n = 362 MB_Grp4) was assembled from UK-CCLG institutions and SIOP-UKCCSG-PNET3, HIT-SIOP-PNET4 and PNET HR + 5 clinical trials. Molecular profiling was undertaken, integrating driver mutations, second-generat

SUBMITTER: Goddard J 

PROVIDER: S-EPMC10119222 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature