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Frequent deletion of the CDKN2A locus in chordoma: analysis of chromosomal imbalances using array comparative genomic hybridisation.

Hansén Nord, Karolin LU ; Staaf, Johan LU ; Jönsson, Göran B LU ; Heidenblad, Markus LU ; Vult von Steyern, Fredrik LU ; Bauer, H C F; Ijszenga, M; Hogendoorn, P C W; Mandahl, Nils LU and Szuhai, K, et al. (2008) In British Journal of Cancer 98(2). p.434-442
Abstract
The initiating somatic genetic events in chordoma development have not yet been identified. Most cytogenetically investigated chordomas have displayed near-diploid or moderately hypodiploid karyotypes, with several numerical and structural rearrangements. However, no consistent structural chromosome aberration has been reported. This is the first array-based study characterising DNA copy number changes in chordoma. Array comparative genomic hybridisation (aCGH) identified copy number alterations in all samples and imbalances affecting 5 or more out of the 21 investigated tumours were seen on all chromosomes. In general, deletions were more common than gains and no high-level amplification was found, supporting previous findings of... (More)
The initiating somatic genetic events in chordoma development have not yet been identified. Most cytogenetically investigated chordomas have displayed near-diploid or moderately hypodiploid karyotypes, with several numerical and structural rearrangements. However, no consistent structural chromosome aberration has been reported. This is the first array-based study characterising DNA copy number changes in chordoma. Array comparative genomic hybridisation (aCGH) identified copy number alterations in all samples and imbalances affecting 5 or more out of the 21 investigated tumours were seen on all chromosomes. In general, deletions were more common than gains and no high-level amplification was found, supporting previous findings of primarily losses of large chromosomal regions as an important mechanism in chordoma development. Although small imbalances were commonly found, the vast majority of these were detected in single cases; no small deletion affecting all tumours could be discerned. However, the CDKN2A and CDKN2B loci in 9p21 were homo- or heterozygously lost in 70% of the tumours, a finding corroborated by fluorescence in situ hybridisation, suggesting that inactivation of these genes constitute an important step in chordoma development.British Journal of Cancer (2008) 98, 434-442. doi:10.1038/sj.bjc.6604130 www.bjcancer.com Published online 11 December 2007. (Less)
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British Journal of Cancer
volume
98
issue
2
pages
434 - 442
publisher
Nature Publishing Group
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  • pmid:18071362
  • wos:000252933400026
  • scopus:38549178133
ISSN
1532-1827
DOI
10.1038/sj.bjc.6604130
language
English
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yes
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a2a700bf-238c-4655-942c-ac38e60ea783 (old id 1035392)
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http://www.ncbi.nlm.nih.gov/pubmed/18071362?dopt=Abstract
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2008-04-01 12:54:29
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2017-09-03 04:49:43
@article{a2a700bf-238c-4655-942c-ac38e60ea783,
  abstract     = {The initiating somatic genetic events in chordoma development have not yet been identified. Most cytogenetically investigated chordomas have displayed near-diploid or moderately hypodiploid karyotypes, with several numerical and structural rearrangements. However, no consistent structural chromosome aberration has been reported. This is the first array-based study characterising DNA copy number changes in chordoma. Array comparative genomic hybridisation (aCGH) identified copy number alterations in all samples and imbalances affecting 5 or more out of the 21 investigated tumours were seen on all chromosomes. In general, deletions were more common than gains and no high-level amplification was found, supporting previous findings of primarily losses of large chromosomal regions as an important mechanism in chordoma development. Although small imbalances were commonly found, the vast majority of these were detected in single cases; no small deletion affecting all tumours could be discerned. However, the CDKN2A and CDKN2B loci in 9p21 were homo- or heterozygously lost in 70% of the tumours, a finding corroborated by fluorescence in situ hybridisation, suggesting that inactivation of these genes constitute an important step in chordoma development.British Journal of Cancer (2008) 98, 434-442. doi:10.1038/sj.bjc.6604130 www.bjcancer.com Published online 11 December 2007.},
  author       = {Hansén Nord, Karolin and Staaf, Johan and Jönsson, Göran B and Heidenblad, Markus and Vult von Steyern, Fredrik and Bauer, H C F and Ijszenga, M and Hogendoorn, P C W and Mandahl, Nils and Szuhai, K and Mertens, Fredrik},
  issn         = {1532-1827},
  language     = {eng},
  number       = {2},
  pages        = {434--442},
  publisher    = {Nature Publishing Group},
  series       = {British Journal of Cancer},
  title        = {Frequent deletion of the CDKN2A locus in chordoma: analysis of chromosomal imbalances using array comparative genomic hybridisation.},
  url          = {http://dx.doi.org/10.1038/sj.bjc.6604130},
  volume       = {98},
  year         = {2008},
}