Recent advances in the molecular understanding of medulloblastoma

Cancer Sci. 2023 Mar;114(3):741-749. doi: 10.1111/cas.15691. Epub 2022 Dec 25.

Abstract

Medulloblastoma is the most common pediatric malignant brain tumor composed of four molecular subgroups. Recent intensive genomics has greatly contributed to our understanding of medulloblastoma pathogenesis. Sequencing studies identified novel mutations involved in the cyclic AMP-dependent pathway or RNA processing in the Sonic Hedgehog (SHH) subgroup, and core-binding factor subunit alpha (CBFA) complex in the group 4 subgroup. Likewise, single-cell sequencing provided detailed insights into the cell of origin associated with brain development. In this review, we will summarize recent findings by sequencing analyses for medulloblastoma.

Keywords: CBFA complex; RNA processing; SHH signaling pathway; medulloblastoma; rhombic lip.

Publication types

  • Review

MeSH terms

  • Brain / pathology
  • Brain Neoplasms* / metabolism
  • Cerebellar Neoplasms* / genetics
  • Child
  • Hedgehog Proteins / metabolism
  • Humans
  • Medulloblastoma* / genetics

Substances

  • Hedgehog Proteins