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Homozygous deletions of cadherin genes in chondrosarcoma-an array comparative genomic hybridization study

Niini, Tarja; Scheinin, Ilari; Lahti, Leo; Savola, Suvi; Mertens, Fredrik LU ; Hollmen, Jaakko; Bohling, Tom; Kivioja, Aarne; Hansén Nord, Karolin LU and Knuutila, Sakari (2012) In Cancer genetics 205(11). p.588-593
Abstract
Chondrosarcoma is a malignant bone tumor that is often resistant to chemotherapy and radiotherapy. We applied high resolution oligonucleotide array comparative genomic hybridization to 46 tumor specimens from 44 patients with chondrosarcoma and identified several genes with potential importance for the development of chondrosarcoma. Several homozygous deletions were detected. The tumor suppressor genes CDKN2A and MTAP were each homozygously deleted in four of the cases, and the RB1 gene was homozygously deleted in one. Two homozygous deletions of MTAP did not affect CDKN2A. Deletions were also found to affect genes of the cadherin family, including CDH4 and CDH7, each of which had a targeted homozygous loss in one case, and CDH19, which... (More)
Chondrosarcoma is a malignant bone tumor that is often resistant to chemotherapy and radiotherapy. We applied high resolution oligonucleotide array comparative genomic hybridization to 46 tumor specimens from 44 patients with chondrosarcoma and identified several genes with potential importance for the development of chondrosarcoma. Several homozygous deletions were detected. The tumor suppressor genes CDKN2A and MTAP were each homozygously deleted in four of the cases, and the RB1 gene was homozygously deleted in one. Two homozygous deletions of MTAP did not affect CDKN2A. Deletions were also found to affect genes of the cadherin family, including CDH4 and CDH7, each of which had a targeted homozygous loss in one case, and CDH19, which had a targeted homozygous loss in two cases. Loss of the EXT1 and EXT2 genes was uncommon; EXT1 was homozygously deleted in none and EXT2 in two of the cases, and large heterozygous losses including EXT1 and/or EXT2 were seen in three cases. Targeted gains and amplifications affected the MYC, E2F3, CDK6, PDGFRA, KIT, and PDGFD genes in one case each. The data indicate that chondrosarcomas develop through a combination of genomic imbalances that often affect the RB1 signaling pathway. The inactivation of cadherin genes may also be critical in the pathogenesis of the tumor. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Chondrosarcoma, array comparative genomic hybridization, cadherin gene, MTAP, RB1 signaling pathway
in
Cancer genetics
volume
205
issue
11
pages
588 - 593
publisher
Elsevier
external identifiers
  • wos:000311882800005
  • scopus:84869399137
ISSN
2210-7762
DOI
10.1016/j.cancergen.2012.09.007
language
English
LU publication?
yes
id
87cbf864-323a-4eba-85ea-2fe2f14bb40d (old id 3373237)
date added to LUP
2013-02-01 07:01:33
date last changed
2017-04-09 03:22:12
@article{87cbf864-323a-4eba-85ea-2fe2f14bb40d,
  abstract     = {Chondrosarcoma is a malignant bone tumor that is often resistant to chemotherapy and radiotherapy. We applied high resolution oligonucleotide array comparative genomic hybridization to 46 tumor specimens from 44 patients with chondrosarcoma and identified several genes with potential importance for the development of chondrosarcoma. Several homozygous deletions were detected. The tumor suppressor genes CDKN2A and MTAP were each homozygously deleted in four of the cases, and the RB1 gene was homozygously deleted in one. Two homozygous deletions of MTAP did not affect CDKN2A. Deletions were also found to affect genes of the cadherin family, including CDH4 and CDH7, each of which had a targeted homozygous loss in one case, and CDH19, which had a targeted homozygous loss in two cases. Loss of the EXT1 and EXT2 genes was uncommon; EXT1 was homozygously deleted in none and EXT2 in two of the cases, and large heterozygous losses including EXT1 and/or EXT2 were seen in three cases. Targeted gains and amplifications affected the MYC, E2F3, CDK6, PDGFRA, KIT, and PDGFD genes in one case each. The data indicate that chondrosarcomas develop through a combination of genomic imbalances that often affect the RB1 signaling pathway. The inactivation of cadherin genes may also be critical in the pathogenesis of the tumor.},
  author       = {Niini, Tarja and Scheinin, Ilari and Lahti, Leo and Savola, Suvi and Mertens, Fredrik and Hollmen, Jaakko and Bohling, Tom and Kivioja, Aarne and Hansén Nord, Karolin and Knuutila, Sakari},
  issn         = {2210-7762},
  keyword      = {Chondrosarcoma,array comparative genomic hybridization,cadherin gene,MTAP,RB1 signaling pathway},
  language     = {eng},
  number       = {11},
  pages        = {588--593},
  publisher    = {Elsevier},
  series       = {Cancer genetics},
  title        = {Homozygous deletions of cadherin genes in chondrosarcoma-an array comparative genomic hybridization study},
  url          = {http://dx.doi.org/10.1016/j.cancergen.2012.09.007},
  volume       = {205},
  year         = {2012},
}