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Genome-wide arrays in routine diagnostics of hematological malignancies

Authors

  • Annet Simons,

    1. Laboratory of Tumor Genetics, Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands
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  • Birgit Sikkema-Raddatz,

    1. Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands
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  • Nicole de Leeuw,

    1. Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands
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  • Nicole Claudia Konrad,

    1. Department of Medical Genetics, Cancer Cytogenetic Unit, Lausanne University Hospital, Lausanne, Switzerland
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  • Rosalind J. Hastings,

    1. Cytogenetic European Quality Assessment and United Kingdom Cytogenetic European Quality Assessment for Clinical Cytogenetics, John Radcliffe Hospital Women's Center, Oxford University Hospitals NHS Trust, Oxford, United Kingdom
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  • Jacqueline Schoumans

    Corresponding author
    1. Department of Medical Genetics, Cancer Cytogenetic Unit, Lausanne University Hospital, Lausanne, Switzerland
    • Department of Medical Genetics, Cancer Cytogenetic Unit, Lausanne University Hospital, 1011 Lausanne, Switzerland.
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  • For the Focus on CNV Detection with Diagnostic Arrays

Abstract

Over the last three decades, cytogenetic analysis of malignancies has become an integral part of disease evaluation and prediction of prognosis or responsiveness to therapy. In most diagnostic laboratories, conventional karyotyping, in conjunction with targeted fluorescence in situ hybridization analysis, is routinely performed to detect recurrent aberrations with prognostic implications. However, the genetic complexity of cancer cells requires a sensitive genome-wide analysis, enabling the detection of small genomic changes in a mixed cell population, as well as of regions of homozygosity. The advent of comprehensive high-resolution genomic tools, such as molecular karyotyping using comparative genomic hybridization or single-nucleotide polymorphism microarrays, has overcome many of the limitations of traditional cytogenetic techniques and has been used to study complex genomic lesions in, for example, leukemia. The clinical impact of the genomic copy-number and copy-neutral alterations identified by microarray technologies is growing rapidly and genome-wide array analysis is evolving into a diagnostic tool, to better identify high-risk patients and predict patients' outcomes from their genomic profiles. Here, we review the added clinical value of an array-based genome-wide screen in leukemia, and discuss the technical challenges and an interpretation workflow in applying arrays in the acquired cytogenetic diagnostic setting. Hum Mutat 33:941–948, 2012. © 2012 Wiley Periodicals, Inc.

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