Resumen
Medulloblastoma (MB) was classified into four subgroups: WNT, SHH, group 3, and group 4. In 2017, 12 subtypes within 4 subgroups and 8 subtypes within non-WNT/non-SHH subgroups according to the heterogenous features were announced. In this study, we aimed to identify the heterogeneity of molecular features for discovering subtype specific factors linked to diagnosis and prognosis. We retrieved 70 MBs to perform RNA sequencing and a DNA methylation array. Integrated with clinical annotations, we classified 12 subtypes of pediatric MBs. We found that M2 macrophages were enriched in SHH ß, which correlated with good outcomes of SHH MBs. The high infiltration of M2 macrophages may be an indicator of a favorable prognosis and therapeutic target for SHH MBs. Furthermore, C11orf95-RELA fusion was observed to be associated with recurrence and a poor prognosis. These results will contribute to the establishment of a molecular diagnosis linked to prognostic factors of relevance for MBs.