title: Cytogenetic aberrations in osteosarcomas. Nonrandom deletions, rings, and double-minute chromosomes.
abstract: Relatively few karyotypes have been reported from short-term cultures and/or direct harvests of osteosarcomas. We describe clonal aberrations in 17 high-grade osteosarcoma specimens and in one low-grade osteosarcoma. The high-grade osteosarcomas were karyotyped after direct harvest (four cases) or after short-term culture periods of < 1 week (13 cases). Three of these specimens, a primary osteosarcoma and two lung metastases, were from the same patient and shared a number of clonal aberrations. No consistent chromosome translocations were identified in the overall group of high-grade osteosarcomas, but potential nonrandom deletions involved 6q21-->qter, 9p21-->pter, chromosome 10, chromosome 13, 17p12-pter, and chromosome 20. Ring chromosomes were detected in three cases, and double-minute (dmin) chromosomes were detected in six. All high-grade osteosarcomas had numerous nonclonal chromosome aberrations superimposed on complex clonal events. The single low-grade osteosarcoma was characterized by a balanced, nonconstitutional, t(5;10) (p13;p14-15), together with an addition to the short arm of chromosome X. This is the first translocation reported in low-grade osteosarcoma, and the simplicity of the karyotype contrasts strikingly with those in the high-grade osteosarcomas.
authors.affiliation: Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115.
authors.forename: J A
authors.initials: JA
authors.lastname: Fletcher
authors.forename: M C
authors.initials: MC
authors.lastname: Gebhardt
authors.forename: H P
authors.initials: HP
authors.lastname: Kozakewich
mesh_terms: D000293:Adolescent; D001859:Bone Neoplasms / Q000235:genetics* / Q000628:therapy; D002648:Child; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D012516:Osteosarcoma / Q000235:genetics* / Q000628:therapy