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Rare Cases of Medulloblastoma with Hypermutation
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  • Aditi Bagchi,
  • Ian Beddows,
  • Albert Cornelius,
  • Giles Robinson,
  • Scott Jewell
Aditi Bagchi
St Jude Children's Research Hospital

Corresponding Author:[email protected]

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Ian Beddows
Van Andel Research Institute
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Albert Cornelius
Helen DeVos Children's Hospital
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Giles Robinson
St. Jude
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Scott Jewell
Van Andel Research Institute
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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.