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• W2070201811 abstract "Metaphase cytogenetics and fluorescence in situ hybridisation (FISH) play an integral role in diagnosis and clinical decision making algorithms for many malignancies. However, inherent methodological limitations mean it is not always possible to adequately characterise the malignant clone using these techniques. DNA microarrays [array comparative hybridisation (aCGH)/sin-gle nucleotide polymorphism arrays (SNP-A)] overcome some limitations of metaphase cytogenetics and FISH. Microarrays are not dependent on the ability to obtain metaphases and detect copy number changes across the genome at high resolution. SNP-A also detect copy neutral loss of heterozygosity (CN-LOH) which may flag the presence of homozygous oncogenic mutations in the neoplastic clone. We have performed microarray testing on samples from patients with acute lymphoblastic leukaemia (ALL), myelodysplastic syndromes (MDS) and chronic lymphocytic leukaemia (CLL) because these disorders are characterised by recurrent copy number changes and CN-LOH with demonstrated clinical significance. In our experience, microarrays provide additional information about the neoplastic clone that complements the standard testing approach. Karyotypic complexity and the presence of contaminating non-malignant cells can pose problems with QC, interpretation, nomenclature and reporting. The position of microarrays in the hierarchy of cytogenetic testing in cancer is likely to be disease specific and is yet to be clearly defined. Metaphase cytogenetics and fluorescence in situ hybridisation (FISH) play an integral role in diagnosis and clinical decision making algorithms for many malignancies. However, inherent methodological limitations mean it is not always possible to adequately characterise the malignant clone using these techniques. DNA microarrays [array comparative hybridisation (aCGH)/sin-gle nucleotide polymorphism arrays (SNP-A)] overcome some limitations of metaphase cytogenetics and FISH. Microarrays are not dependent on the ability to obtain metaphases and detect copy number changes across the genome at high resolution. SNP-A also detect copy neutral loss of heterozygosity (CN-LOH) which may flag the presence of homozygous oncogenic mutations in the neoplastic clone. We have performed microarray testing on samples from patients with acute lymphoblastic leukaemia (ALL), myelodysplastic syndromes (MDS) and chronic lymphocytic leukaemia (CLL) because these disorders are characterised by recurrent copy number changes and CN-LOH with demonstrated clinical significance. In our experience, microarrays provide additional information about the neoplastic clone that complements the standard testing approach. Karyotypic complexity and the presence of contaminating non-malignant cells can pose problems with QC, interpretation, nomenclature and reporting. The position of microarrays in the hierarchy of cytogenetic testing in cancer is likely to be disease specific and is yet to be clearly defined." @default.
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• W2070201811 date "2013-01-01" @default.
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• W2070201811 title "From the front line: the realities and challenges of microarray studies in cancer" @default.
• W2070201811 doi "https://doi.org/10.1097/01.pat.0000426798.87257.88" @default.
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