Pleiotropic role for MYCN in medulloblastoma

Genes Dev. 2010 May 15;24(10):1059-72. doi: 10.1101/gad.1907510.

Abstract

Medulloblastoma (MB) is the most common malignant brain tumor of childhood. Sonic Hedgehog (SHH) signaling drives a minority of MB, correlating with desmoplastic pathology and favorable outcome. The majority, however, arises independently of SHH and displays classic or large cell anaplastic (LCA) pathology and poor prognosis. To identify common signaling abnormalities, we profiled mRNA, demonstrating misexpression of MYCN in the majority of human MB and negligible expression in normal cerebella. We clarified a role in pathogenesis by targeting MYCN (and luciferase) to cerebella of transgenic mice. MYCN-driven MB showed either classic or LCA pathologies, with Shh signaling activated in approximately 5% of tumors, demonstrating that MYCN can drive MB independently of Shh. MB arose at high penetrance, consistent with a role for MYCN in initiation. Tumor burden correlated with bioluminescence, with rare metastatic spread to the leptomeninges, suggesting roles for MYCN in both progression and metastasis. Transient pharmacological down-regulation of MYCN led to both clearance and senescence of tumor cells, and improved survival. Targeted expression of MYCN thus contributes to initiation, progression, and maintenance of MB, suggesting a central role for MYCN in pathogenesis.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Transport System X-AG / genetics
  • Amino Acid Transport System X-AG / metabolism
  • Animals
  • Cell Cycle / physiology
  • Cellular Senescence / physiology
  • Cerebellum / metabolism
  • Down-Regulation
  • Gene Expression Profiling
  • Gene Expression Regulation, Neoplastic*
  • Genomic Instability
  • Hedgehog Proteins / metabolism
  • Humans
  • Medulloblastoma / pathology
  • Medulloblastoma / physiopathology*
  • Mice
  • Mice, Transgenic
  • N-Myc Proto-Oncogene Protein
  • Neoplasm Metastasis / pathology
  • Nuclear Proteins / genetics
  • Nuclear Proteins / metabolism*
  • Oncogene Proteins / genetics
  • Oncogene Proteins / metabolism*

Substances

  • Amino Acid Transport System X-AG
  • Hedgehog Proteins
  • MYCN protein, human
  • N-Myc Proto-Oncogene Protein
  • Nuclear Proteins
  • Oncogene Proteins