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

Research output: Contribution to journalArticleScientificpeer-review


  • Tarja Niini
  • Ilari Scheinin
  • Leo Lahti
  • Suvi Savola
  • Fredrik Mertens
  • Jaakko Hollmen

  • Tom Böhling
  • Aarne Kivioja
  • Karolin H. Nord
  • Sakari Knuutila

Research units

  • Vrije Universiteit Amsterdam
  • Lund University
  • University of Helsinki


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.


Original languageEnglish
Pages (from-to)588-593
Number of pages6
Issue number11
Publication statusPublished - Nov 2012
MoE publication typeA1 Journal article-refereed

    Research areas

  • Array comparative genomic hybridization, Cadherin gene, Chondrosarcoma, MTAP, RB1 signaling pathway

ID: 12776969