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The Use of Cytogenetic Microarrays in Myelodysplastic Syndrome Characterization

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Array Comparative Genomic Hybridization

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

Abstract

Various microarray platforms, including BAC, oligonucleotide, and SNP arrays, have been shown to ­provide clinically useful diagnostic and prognostic information for patients with myelodysplastic syndromes (MDS). Clinically useful arrays are designed with specific purposes in mind and with attention to genomic content and probe density. All array types have been shown to detect genomic copy gains and losses, with SNP arrays having the added advantage of detecting copy neutral loss of heterozygosity (CNLOH). The finding of CNLOH has led to the identification of certain disease genes implicated in the initiation or progression of myeloid diseases. In addition, SNP karyotyping alone, or in conjunction with routine cytogenetics, can affect the outcome prediction and improve prognostic stratification of patients with MDS. Patients who were reclassified after array testing as having adverse-risk chromosomal findings correlated with poor survival. Results of over 25 published studies support the use of arrays in MDS testing. Because few balanced translocations are found in MDS, this disease is particularly amenable to microarray testing, and studies have shown better disease classification, identification of cryptic changes, and prognostication in this heterogeneous group of disorders. Novel genomic alterations identified by array testing may lead to better targeted therapies for treating patients with MDS.

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Acknowledgments

The authors thank Erin Dodge (Signature Genomic Laboratories) for her careful formatting of this manuscript. We thank Donna Wilmoth, (The Children’s Hospital of Philadelphia) for the use of the SNP image.

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Authors and Affiliations

  1. Signature Genomic Laboratories, PerkinElmer Inc., Spokane, WA, USA

    Lisa G. Shaffer, Blake C. Ballif & Roger A. Schultz

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  1. Lisa G. Shaffer
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  2. Blake C. Ballif
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  3. Roger A. Schultz
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Correspondence to Lisa G. Shaffer .

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Editors and Affiliations

  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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Shaffer, L.G., Ballif, B.C., Schultz, R.A. (2013). The Use of Cytogenetic Microarrays in Myelodysplastic Syndrome Characterization. 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_5

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  • DOI: https://doi.org/10.1007/978-1-62703-281-0_5

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  • Publisher Name: Humana Press, Totowa, NJ

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