JMD GMP oligos for in vitro Diagnostics
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Originally published online as doi:10.2353/jmoldx.2009.090027 on July 30, 2009

Published online before print July 30, 2009
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Journal of Molecular Diagnostics 2009, Vol. 11, No. 5
Copyright © 2009 American Society for Investigative Pathology & Association for Molecular Pathology
DOI: 10.2353/jmoldx.2009.090027

Evaluation of 13q14 Status in Multiple Myeloma by Digital Single Nucleotide Polymorphism Technology

Katy Hanlon*{dagger}, Lorna W. Harries*{dagger}, Sian Ellard{dagger}{ddagger} and Claudius E. Rudin*{ddagger}

From the Departments of Haematology, * and Molecular Genetics, {ddagger} Royal Devon and Exeter NHS Foundation Trust, Exeter; and the Institute of Biomedical and Clinical Science, {dagger} Peninsula Medical School, Exeter, United Kingdom

Chromosome 13q deletions are common in multiple myeloma and other cancers, demonstrating the importance of this region in tumorigenesis. We used a novel single nucleotide polymorphism (SNP)-based technique, digital SNP (dSNP), to identify loss of heterozygosity (LOH) at chromosome 13q in paraffin-embedded bone marrow biopsies from 22 patients with multiple myeloma. We analyzed heterozygous SNPs at 13q for the presence of allelic imbalances and examined the results by sequential probability ratio analysis. Where possible, dSNP results were confirmed by fluorescence in situ hybridization. Using dSNP, we identified 13q LOH in 16/18 (89%) (95% Confidence Interval; 65%, 99%) patients without the need for neoplastic cell enrichment. In 8/16 (50%) cases, either partial or interstitial patterns of LOH were observed. Both fluorescence in situ hybridization and dSNP data proved concordant in just 3/9 cases. Five of the six discrepancies showed LOH by dSNP occurring beyond the boundaries of the fluorescence in situ hybridization probes. Our findings show that dSNP represents a useful technique for the analysis of LOH in archival tissue with minimal infiltration of neoplastic cells. The high-resolution screening afforded by the dSNP technology allowed for the identification of complex chromosomal rearrangements, resulting in either partial or interstitial LOH. Digital SNP represents an attractive approach for the investigation of tumors not suitable for genomic-array analysis.






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Copyright © 2009 by the American Society for Investigative Pathology and the Association for Molecular Pathology.