Cytogenetic findings in 36 osteosarcoma specimens and a review of the literature

Tumor-specific chromosomal abnormalities have been shown to characterize certain subgroups of mesenchymal neoplasms. Identification of these abnormalities has proven useful diagnostically and has provided direction for molecular studies of pathogenetically important genes. Recent studies focusing on cytogenetic and molecular cytogenetic findings in osteosarcoma have expanded our knowledge of chromosomal alterations in this neoplasm and are pointing to recurrent reg ions of interest. In our study, the cytogenetic findings of 36 osteosarcoma specimens and a review of the literature (for a total of 161 specimens) are provided. Molecular cytogenetic studies were performed on two specimens. Clonal chromosomal abnormalities were detected in 25 of 36 specimens and included 17 near-diploid, 8 near-triploid, 2 near-tetraploid, and 8 specimens with multiple clones of different ploidy levels. Examination of the present data and previously published results reveals that chromosomal bands or reg ions 1p11-13, 1q11-12, 1q21-22, 11p14-15, 14p11-13, 15p11-13, 17p, and 19q13 are most frequently rearranged, and the most common numerical abnormalities are + 1, -9, -10, -13, and -17. The majority of osteosarcomas examined were characterized by complex karyotypes.