Chromosome analysis of nine osteosarcomas

W. Alexandra Hoogerwerf, Anita L. Hawkins, Constance A. Griffin*, Elizabeth J. Perlman

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

51 Scopus citations


Although recurrent chromosome abnormalities have been identified in several histologic subtypes of sarcomas, no consistent rearrangement has yet been found in osteosarcomas. Cytogenetic analyses of nine cases of osteosarcoma are reported, including seven newly diagnosed tumors and two recurrent tumors. There were seven high‐grade osteosarcomas, one periosteal osteosarcoma, and one well‐differentiated sarcoma. All tumors were studied in short‐term primary culture. Modal number ranged from near diploid to near triploid. Seven tumors had complex karyotypes with multiple structural abnormalities; two had only normal karyotypes. The retinoblastoma gene on chromosome 13 and the TP53 gene on chromosome 17 have been involved in osteosarcoma. Five tumors had loss of a whole copy of chromosome 13, and three of these also had a loss of a whole copy of chromosome 17. However, these losses were observed in the setting of numerous other chromosome loses. Numerous structural abnormalities were observed, many involving additions of unidentified material, unbalanced translocations, or deletions. Structural abnormalities with similar breakpoints involving 6q, 8q, 9q, and 14p were seen in two or three tumors each. When the tumors in this series were added to the 18 published cases, the pericentromeric regions of chromosomes 1, 3, and 14, and segments 6q 15‐21, 8q24, 9q34, 12p 13, 17p 13, and 19q 13, were found to be involved in five or more structural rearrangements. Molecular analyses of these chromosome regions may yield genes important in the pathogenesis of osteosarcoma. Genes Chrom Cancer 9:88‐92 (1994).© 1994 Wiley‐Liss, Inc.

Original languageEnglish (US)
Pages (from-to)88-92
Number of pages5
JournalGenes, Chromosomes and Cancer
Issue number2
StatePublished - Feb 1994

ASJC Scopus subject areas

  • Genetics
  • Cancer Research


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