Rare Cases of Medulloblastoma with Hypermutation [post]

Aditi Bagchi, Ian Beddows, Albert Cornelius, Giles Robinson, Scott Jewell
2021 unpublished
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
more » ... four known molecular subgroups in MB—-SHH, WNT, Group 3, and Group 4—both the POLE-mutated MBs belonged to the SHH subgroup.
doi:10.22541/au.161184512.25966894/v1 fatcat:5zjsyu5p3bg3tdlgh3h4a4mcym