title: Clonal evolution through loss of chromosomes and subsequent polyploidization in chondrosarcoma.
abstract: Near-haploid chromosome numbers have been found in less than 1% of cytogenetically reported tumors, but seem to be more common in certain neoplasms including the malignant cartilage-producing tumor chondrosarcoma. By a literature survey of published karyotypes from chondrosarcomas we could confirm that loss of chromosomes resulting in hyperhaploid-hypodiploid cells is common and that these cells may polyploidize. Sixteen chondrosarcomas were investigated by single nucleotide polymorphism (SNP) array and the majority displayed SNP patterns indicative of a hyperhaploid-hypodiploid origin, with or without subsequent polyploidization. Except for chromosomes 5, 7, 19, 20 and 21, autosomal loss of heterozygosity was commonly found, resulting from chromosome loss and subsequent duplication of monosomic chromosomes giving rise to uniparental disomy. Additional gains, losses and rearrangements of genetic material, and even repeated rounds of polyploidization, may affect chondrosarcoma cells resulting in highly complex karyotypes. Loss of chromosomes and subsequent polyploidization was not restricted to a particular chondrosarcoma subtype and, although commonly found in chondrosarcoma, binucleated cells did not seem to be involved in these events.
authors.affiliation: Department of Clinical Genetics, University and Regional Laboratories, Skåne University Hospital, Lund University, Lund, Sweden.
authors.forename: Linda
authors.initials: L
authors.lastname: Olsson
authors.forename: Kajsa
authors.initials: K
authors.lastname: Paulsson
authors.forename: Judith V M G
authors.initials: JV
authors.lastname: Bovée
authors.forename: Karolin H
authors.initials: KH
authors.lastname: Nord
mesh_terms: D000368:Aged; D001859:Bone Neoplasms / Q000235:genetics* / Q000473:pathology*; D002813:Chondrosarcoma / Q000235:genetics* / Q000473:pathology*; D002869:Chromosome Aberrations; D060965:Clonal Evolution; D005260:Female; D005455:Fluorescent Antibody Technique; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D019656:Loss of Heterozygosity; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D011003:Ploidies; D020641:Polymorphism, Single Nucleotide / Q000235:genetics