title: Monoallelic deletion of the p53 gene through chromosomal translocation in a small cell osteosarcoma.
abstract: Small cell osteosarcoma is a rare bone tumor of high-grade malignancy that most often arises in the metaphysis of long bones in the second decade of life. Cytogenetic and molecular genetic findings in small cell osteosarcoma are poorly defined. Conventional cytogenetic analysis of a small cell osteosarcoma arising in the proximal tibia of a 9-year-old male revealed a diploid chromosomal complement with complex structural rearrangements involving chromosomes 6, 16, and 17. Immunohistochemical assessment of p53 protein expression revealed nuclear p53 immunoreactivity in approximately 15% of the neoplastic cells. Subsequent fluorescence in situ hybridization (FISH) analyses confirmed loss of the p53 gene locus on the derivative chromosome 17 homolog and were negative for amplification of the MDM2, CDK4, c-MYC, HER-2/neu, CCND1, and COPS3 gene loci. To the best of our knowledge, this represents the first demonstration of monoallelic deletion of p53 in small cell osteosarcoma, suggesting that p53 alterations may play an important role in the development of small cell osteosarcoma as well as conventional osteosarcoma.
authors.affiliation: Department of Pathology and Microbiology, University of Nebraska Medical Center, 983135 Nebraska Medical Center, Omaha, NE 68198-3135, USA.
authors.forename: Jun
authors.initials: J
authors.lastname: Nishio
authors.forename: John D
authors.initials: JD
authors.lastname: Gentry
authors.forename: James R
authors.initials: JR
authors.lastname: Neff
authors.forename: Marilu
authors.initials: M
authors.lastname: Nelson
authors.forename: Wayne
authors.initials: W
authors.lastname: Daniels
authors.forename: Deborah
authors.initials: D
authors.lastname: Perry
authors.forename: Zoran
authors.initials: Z
authors.lastname: Gatalica
authors.forename: Julia A
authors.initials: JA
authors.lastname: Bridge
mesh_terms: D014408:Biomarkers, Tumor / Q000032:analysis; D001859:Bone Neoplasms / Q000737:chemistry / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D002648:Child; D002871:Chromosome Banding; D002902:Chromosomes, Human, 16-18 / Q000235:genetics*; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D017353:Gene Deletion; D016158:Genes, p53 / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D012516:Osteosarcoma / Q000737:chemistry / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D019253:Proto-Oncogene Proteins c-bcl-2 / Q000032:analysis; D013977:Tibia / Q000473:pathology; D014178:Translocation, Genetic; D014746:Vimentin / Q000032:analysis
chemical_list: D014408:Biomarkers, Tumor; D019253:Proto-Oncogene Proteins c-bcl-2; D014746:Vimentin