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Originally published online as doi:10.2353/jmoldx.2009.080167 on May 21, 2009

Published online before print May 21, 2009
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Journal of Molecular Diagnostics 2009, Vol. 11, No. 4
Copyright © 2009 American Society for Investigative Pathology & Association for Molecular Pathology
DOI: 10.2353/jmoldx.2009.080167

Evaluation of 13q14 Status in Patients with Chronic Lymphocytic Leukemia Using Single Nucleotide Polymorphism-Based Techniques

Katy Hanlon*{dagger}, Sian Ellard{dagger}{ddagger}, Claudius E. Rudin*{dagger}, Susan Thorne§, Teresa Davies§ and Lorna W. Harries{dagger}{ddagger}

From the Departments of Haematology, * and Molecular Genetics, {ddagger} Royal Devon and Exeter National Health Service Foundation Trust, Devon; the Institute of Biomedical and Clinical Sciences, {dagger} Peninsula Medical School, Exeter; and the Bristol Genetics Laboratory, § Southmead Hospital, Bristol, United Kingdom

Deletions of chromosome 13q14 are common in chronic lymphocytic leukemia and other cancers, demonstrating the importance of this region in tumorigenesis. We report the use of two single-nucleotide polymorphism (SNP)-based techniques to determine 13q loss of heterozygosity (LOH) status in 15 patients with CLL: (i) digital SNP (dSNP), where analysis of heterozygous SNPs detects allelic imbalances, and (ii) DNA sequencing, where LOH is identified by comparison of allelic peak heights in normal and neoplastic cells. The SNP-based techniques were compared with established molecular techniques, fluorescence in situ hybridization and multiplex ligation-dependent probe amplification, to determine their utility and relative sensitivity. dSNP proved to be the most sensitive technique, identifying 13q14 LOH in 11 of 13 (85%) patients (95% CI: 55%, 98%) without the need for neoplastic cell enrichment. Three cases showed evidence of LOH by dSNP that was not apparent by other techniques. In 8 of 13 (62%) cases, partial or interstitial patterns of LOH were observed by dSNP. Our findings demonstrate that dSNP represents a useful, sensitive technique for the analysis of chromosomal aberrations that result in LOH. It may have applications for the analysis of other malignancies that are difficult to assess by conventional molecular techniques.




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K. Hanlon, L. W. Harries, S. Ellard, and C. E. Rudin
Evaluation of 13q14 Status in Multiple Myeloma by Digital Single Nucleotide Polymorphism Technology
J. Mol. Diagn., September 1, 2009; 11(5): 450 - 457.
[Abstract] [Full Text] [PDF]


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