Abstract
Medulloblastoma (MB) is the most common malignant brain tumor of
childhood and is reported to have a low mutational burden. However, in
this study, we identified nine MBs with high mutational burden by next
generation sequencing. Of them, two had canonical mutations in the POLE
proof-reading domain, where a large proportion of mutations in these
tumor genomes contributed to signature 10. We report very rare
incidences of hypermutation in MB and mechanisms driving mutagenesis.
Strikingly, of the four known molecular subgroups in MB—-SHH, WNT,
Group 3, and Group 4—both the POLE-mutated MBs belonged to the SHH
subgroup.