Multiple genomic alterations including N-myc amplification in a primary large cell medulloblastoma

David A. Reardon, Jesse J. Jenkins, Jack E. Sublett, Peter C. Burger, Larry E. Kun

Research output: Contribution to journalArticlepeer-review

39 Scopus citations


The large cell (LC) subtype is a recently described histologic variant of medulloblastoma (Mb) associated with a rapid and aggressive clinical course. We describe the genomic profile of a LC-Mb tumor obtained from a patient who developed recurrent and fulminant disease despite 'good-risk' features at diagnosis and state-of-the-art multidisciplinary therapy. The tumor sample was analyzed using comparative genomic hybridization (CGH) and complementary molecular approaches. CGH revealed amplicons at chromosome bands 2p24-25, 2q12-22, and 17p11; losses of chromosomes 11q and 18; and low- level gains of 3q, 11p, 13q and 14q. Southern blot analysis confirmed N-myc amplification. No evidence of p53 mutation was detected. The genomic profile of this LC-Mb tumor sample revealed a distinctive pattern of genetic alterations including amplification of N-myc and anonymous oncogenes at chromosome bands 2q12-22 and 17p11. These genomic abnormalities are uncommon in other subtypes of Mb. Copyright (C) 2000 S. Karger AG, Basel.

Original languageEnglish (US)
Pages (from-to)187-191
Number of pages5
JournalPediatric Neurosurgery
Issue number4
StatePublished - Apr 2000


  • Comparative genomic hybridization
  • Gene amplification
  • Medulloblastoma
  • N-myc
  • Oncogene

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Surgery
  • Clinical Neurology


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