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Array Comparative Genomic Hybridization pp 227–247Cite as

Array Comparative Genomic Hybridization in Osteosarcoma

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Part of the book series: Methods in Molecular Biology ((MIMB,volume 973))

Abstract

Osteosarcoma, the most frequent primary bone tumor, is a malignant mesenchymal sarcoma with a peak incidence in young children and adolescents. Left untreated, it progresses relentlessly to local and systemic disease, ultimately leading to death within months. Genomically, osteosarcomas are aneuploid with chaotic karyotypes, lacking the pathognomonic genetic rearrangements characteristic of most sarcomas. The familial genetics of osteosarcoma helped in elucidating some of the etiological molecular disruptions, such as the tumor suppressor genes RB1 in retinoblastoma and TP53 in Li–Fraumeni, and RECQL4 involved in DNA repair/replication in Rothmund–Thomson syndrome. Genomic profiling approaches such as array comparative genomic hybridization (aCGH) have provided additional insights concerning the mechanisms responsible for generating complex osteosarcoma genomes. This chapter provides a brief introduction to the clinical features of conventional osteosarcoma, the predominant subtypes, and a general overview of materials and analytical methods of osteosarcoma aCGH, followed by a more detailed literature overview of aCGH studies and a discussion of emerging genes, molecular mechanisms, and their clinical implications, as well as more recent application of integrative genomics in osteosarcoma. aCHG is helping elucidate genomic events leading to tumor development and evolution as well as identification of prognostic markers and therapeutic targets in osteosarcoma.

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Acknowledgments

B.S. was a past recipient of the National Cancer Institute of Canada (currently Canadian Cancer Society) and the Terry Fox Foundation Fellowship in osteosarcoma research. S.S. was a past recipient of the Canadian Institute of Health Research Fellowship for Graduate Training in Molecular Medicine. M.Z is funded by the Canadian Cancer Society grant CCRI-020247.

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Authors and Affiliations

  1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA

    Bekim Sadikovic

  2. Department of Pathology and Molecular Medicine, Queens University, Kingston, ON, Canada

    Paul C. Park

  3. Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA

    Shamini Selvarajah

  4. Department of Laboratory Medicine and Pathobiology, The Hospital for Sick Children, Toronto, ON, Canada

    Maria Zielenska

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  1. Bekim Sadikovic
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  2. Paul C. Park
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  4. Maria Zielenska
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Correspondence to Bekim Sadikovic .

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  1. , Dept. of Pathology & Lab. Medicine, The Ottawa Hospital, Smyth Road 501, Ottawa, K1H 8L6, Ontario, Canada

    Diponkar Banerjee

  2. , Dept. of Molecular Oncology, BC Cancer Agency, West 10th Avenue 675, Vancouver, V5T 4E6, British Columbia, Canada

    Sohrab P. Shah

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Sadikovic, B., Park, P.C., Selvarajah, S., Zielenska, M. (2013). Array Comparative Genomic Hybridization in Osteosarcoma. In: Banerjee, D., Shah, S. (eds) Array Comparative Genomic Hybridization. Methods in Molecular Biology, vol 973. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-62703-281-0_15

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