Frequent amplification and rearrangement of chromosomal bands 6p12‐p21 and 17p11.2 in osteosarcoma

Osteosarcoma (OS) is a highly malignant bone neoplasm of children and young adults. It is characterized by chaotic karyotypes with complex marker chromosomes. We applied a combination of molecular cytogenetic techniques including comparative genomic hybridization (CGH), spectral karyotyping (SKY), a...

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Published in:Genes chromosomes & cancer 2004-01, Vol.39 (1), p.11-21
Main Authors: Lau, Ching C., Harris, Charles P., Lu, Xin‐Yan, Perlaky, Laszlo, Gogineni, Sheila, Chintagumpala, Murali, Hicks, John, Johnson, Mark E., Davino, Nelson A., Huvos, Andrew G., Meyers, Paul A., Healy, John H., Gorlick, Richard, Rao, Pulivarthi H.
Format: Article
Language:English
Subjects:
Adolescent
Child
Chromosome Banding
Chromosome Breakage - genetics
Chromosome Painting
Chromosomes, Human, Pair 17 - genetics
Chromosomes, Human, Pair 6 - genetics
Female
Gene Amplification
Gene Dosage
Gene Rearrangement
Humans
In Situ Hybridization, Fluorescence
Karyotyping - methods
Male
Nucleic Acid Hybridization
Osteosarcoma - genetics
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Summary:Osteosarcoma (OS) is a highly malignant bone neoplasm of children and young adults. It is characterized by chaotic karyotypes with complex marker chromosomes. We applied a combination of molecular cytogenetic techniques including comparative genomic hybridization (CGH), spectral karyotyping (SKY), and fluorescence in situ hybridization (FISH) to decipher the chromosomal complexity in a panel of 25 tumors. Combined SKY and G‐banding analysis identified several novel recurrent breakpoint clusters and 9 nonrecurrent reciprocal translocations. CGH identified several recurrent chromosomal losses including 2q, 3p, 9, 10p, 12q, 13q, 14q, 15q, 16, 17p, and 18q, gains including Xp, Xq, 5q, 6p, 8q, 17p, and 20q, and high‐level chromosomal amplifications at Xp11.2, 1q21‐q22, 4p11, 4q12, 5p15, 6p12.1, 8q13, 8q23, 10q11, 10q22, 11q13, 11q23, 12q13‐q14, 13q21‐q34, 16q22, 17p11.2, 17q21‐q22, 18q22, 20p11.2, and 20q12. Frequent amplification and rearrangement involving chromosomal bands at 6p12‐p21 and 17p11.2 were found in 28% and 32% of cases, respectively. In an attempt to identify the genes involved in these amplicons, we used three nonoverlapping BAC clones contained within each amplicon as probes for FISH analysis, leading to a more detailed characterization and quantification of the 6p and 17p amplicons. © 2004 Wiley‐Liss, Inc.
ISSN:1045-2257
1098-2264
DOI:10.1002/gcc.10291