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Characterization of chromosome 17 abnormalities in medulloblastomas.

Publication ,  Journal Article
Aldosari, N; Rasheed, BK; McLendon, RE; Friedman, HS; Bigner, DD; Bigner, SH
Published in: Acta Neuropathol
April 2000

Loss of portions of chromosome 17p, usually through the formation of i(17qp) is a well-known finding in medulloblastomas. Loss of heterozygosity (LOH) studies, however, occasionally demonstrate loss of the more distal portions of 17p, a pattern which is more consistent with a terminal deletion. Here we use a combination of routine karyotyping, fluorescence in situ hybridization (FISH) and LOH studies on four medulloblastoma cell lines and one xenograft to demonstrate the spectrum of chromosome 17 abnormalities which occur in these tumors. Cell line D-556 Med showed a typical dicentric i(17q) and cell line D-721 Med showed two normal copies of chromosome 17 by all methods. Cell line D-425 Med showed loss of terminal 17p by LOH, while the karyotype showed what appeared to be an i(17q). FISH and chromosome 17 painting, however, demonstrated that the abnormal chromosome 17 was actually formed through an unbalanced translocation involving two copies of chromosome 17, with breakpoints at p12 and q11-1, an explanation which reconciled the cytogenetic and LOH findings. Cell line D 581 Med had a terminal deletion at 17p11.2. The finding of two cells with i(17q) in this case by interphase FISH suggests that the terminal deletion arose from breakage of an i(17q). Finally, xenograft D 690 Med showed LOH for regions distal to 17p12, whereas karyotyping, FISH using probes on 17p, and chromosome 17 painting showed two intact copies of chromosome 17. This pattern can be explained by homologous recombination. These data support the concept that the critical deletion of 17p can occur through a variety of mechanisms in the medulloblastoma. The losses may occur through typical i(17q), as well as other mechanisms such as terminal deletions, possibly through breakage of i(17q), unbalanced translocations and homologous recombination.

Duke Scholars

Published In

Acta Neuropathol

DOI

ISSN

0001-6322

Publication Date

April 2000

Volume

99

Issue

4

Start / End Page

345 / 351

Location

Germany

Related Subject Headings

  • Tumor Cells, Cultured
  • Neurology & Neurosurgery
  • Medulloblastoma
  • Male
  • Karyotyping
  • In Situ Hybridization, Fluorescence
  • Humans
  • Female
  • Chromosomes, Human, Pair 17
  • Chromosome Disorders
 

Citation

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MLA
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Aldosari, N., Rasheed, B. K., McLendon, R. E., Friedman, H. S., Bigner, D. D., & Bigner, S. H. (2000). Characterization of chromosome 17 abnormalities in medulloblastomas. Acta Neuropathol, 99(4), 345–351. https://doi.org/10.1007/s004010051134
Aldosari, N., B. K. Rasheed, R. E. McLendon, H. S. Friedman, D. D. Bigner, and S. H. Bigner. “Characterization of chromosome 17 abnormalities in medulloblastomas.Acta Neuropathol 99, no. 4 (April 2000): 345–51. https://doi.org/10.1007/s004010051134.
Aldosari N, Rasheed BK, McLendon RE, Friedman HS, Bigner DD, Bigner SH. Characterization of chromosome 17 abnormalities in medulloblastomas. Acta Neuropathol. 2000 Apr;99(4):345–51.
Aldosari, N., et al. “Characterization of chromosome 17 abnormalities in medulloblastomas.Acta Neuropathol, vol. 99, no. 4, Apr. 2000, pp. 345–51. Pubmed, doi:10.1007/s004010051134.
Aldosari N, Rasheed BK, McLendon RE, Friedman HS, Bigner DD, Bigner SH. Characterization of chromosome 17 abnormalities in medulloblastomas. Acta Neuropathol. 2000 Apr;99(4):345–351.
Journal cover image

Published In

Acta Neuropathol

DOI

ISSN

0001-6322

Publication Date

April 2000

Volume

99

Issue

4

Start / End Page

345 / 351

Location

Germany

Related Subject Headings

  • Tumor Cells, Cultured
  • Neurology & Neurosurgery
  • Medulloblastoma
  • Male
  • Karyotyping
  • In Situ Hybridization, Fluorescence
  • Humans
  • Female
  • Chromosomes, Human, Pair 17
  • Chromosome Disorders