title: Cytogenetic study of 249 consecutive patients examined for a bone tumor.
abstract: Chromosome analysis was performed on 304 samples of 249 consecutive patients examined for a possible bone tumor. The series consisted of 86 nonneoplastic disorders, 108 benign and 78 malignant primary bone tumors, and 32 other bone malignancies. In the group of nonneoplastic disorders, one sample from an infectious lesion demonstrated a clonal chromosome aberration, i.e., additional material in the short arm of chromosome 1. Simple clonal aberrations were noted in six of 75 successfully cultured benign tumors, e.g., a chondromyxoid fibroma with an insertion type translocation from 2p21p25 to 5q13 and 2p deletion and a nonossifying fibroma with del(4)(p14). Complex clonal aberrations were evident in 21 of 54 successfully cultured malignant primary bone tumors and eight of 21 secondary bone malignancies. The complexity of clonal aberrations correlated with the grade of malignancy as the osteosarcomas and chondrosarcomas of high-grade demonstrated chaotic abnormalities. Six Ewing's sarcomas demonstrated the t(11;22)(q24;q12); in one this was the sole abnormality, and in five additional changes were evident: der(1;16)(q10;p10) in one. Homogeneously staining elongated areas interpreted as HSR were observed in three patients, all of whom had a highly malignant tumor. The most frequent nonclonal abnormality was telomeric association, which was observed mainly in giant cell tumors.
authors.affiliation: Department of Medical Genetics, University of Helsinki, Finland.
authors.forename: M
authors.initials: M
authors.lastname: Tarkkanen
authors.forename: A
authors.initials: A
authors.lastname: Kaipainen
authors.forename: E
authors.initials: E
authors.lastname: Karaharju
authors.forename: T
authors.initials: T
authors.lastname: Böhling
authors.forename: J
authors.initials: J
authors.lastname: Szymanska
authors.forename: H
authors.initials: H
authors.lastname: Heliö
authors.forename: A
authors.initials: A
authors.lastname: Kivioja
authors.forename: I
authors.initials: I
authors.lastname: Elomaa
authors.forename: S
authors.initials: S
authors.lastname: Knuutila
mesh_terms: D000782:Aneuploidy; D001847:Bone Diseases / Q000235:genetics; D001859:Bone Neoplasms / Q000235:genetics*; D002872:Chromosome Deletion; D005260:Female; D006801:Humans; D017403:In Situ Hybridization; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic