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 journalArticle

37 Citations (Scopus)

Abstract

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
Volume32
Issue number4
StatePublished - Apr 1 2000

Fingerprint

Medulloblastoma
Comparative Genomic Hybridization
Chromosomes
Art Therapy
Chromosomes, Human, Pair 18
Neoplasms
myc Genes
Southern Blotting
Mutation

Keywords

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

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Cite this

Reardon, D. A., Jenkins, J. J., Sublett, J. E., Burger, P. C., & Kun, L. E. (2000). Multiple genomic alterations including N-myc amplification in a primary large cell medulloblastoma. Pediatric Neurosurgery, 32(4), 187-191.

Multiple genomic alterations including N-myc amplification in a primary large cell medulloblastoma. / Reardon, David A.; Jenkins, Jesse J.; Sublett, Jack E.; Burger, Peter C.; Kun, Larry E.

In: Pediatric Neurosurgery, Vol. 32, No. 4, 01.04.2000, p. 187-191.

Research output: Contribution to journalArticle

Reardon, DA, Jenkins, JJ, Sublett, JE, Burger, PC & Kun, LE 2000, 'Multiple genomic alterations including N-myc amplification in a primary large cell medulloblastoma', Pediatric Neurosurgery, vol. 32, no. 4, pp. 187-191.
Reardon, David A. ; Jenkins, Jesse J. ; Sublett, Jack E. ; Burger, Peter C. ; Kun, Larry E. / Multiple genomic alterations including N-myc amplification in a primary large cell medulloblastoma. In: Pediatric Neurosurgery. 2000 ; Vol. 32, No. 4. pp. 187-191.
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