Abstract
A recently proposed risk stratification of medulloblastomas has shown
that Sonic Hedgehog (SHH) subtype with TP53 mutation is the worst
prognostic. Here, we describe the case of a 6-year-old boy with
clinically very aggressive SHH medulloblastoma like TP53 mutant,
but the genetic status of the case was wild type. Copy number analysis
showed MYCN amplification, chromosome 17p loss, and
chromothripsis, which are known to be strongly associated with
TP53-mutated SHH tumors. The presence of both chromosome 17p loss
and chromothripsis in SHH medulloblastoma may suggest a p53 pathway
dysregulation regardless of the TP53 status, leading to a much worse
prognosis.