J.H. and C.W.J. contributed to the work equally and served as first authors equally.
Different characteristics identified by single nucleotide polymorphism array analysis in leukemia suggest the need for different application strategies depending on disease category
Article first published online: 28 SEP 2012
Copyright © 2012 Wiley Periodicals, Inc.
Genes, Chromosomes and Cancer
Volume 52, Issue 1, pages 44–55, January 2013
How to Cite
Huh, J., Jung, C. W., Kim, H.-J., Kim, Y.-K., Moon, J. H., Sohn, S. K., Kim, H.-J., Min, W. S. and Kim, D. H. (2013), Different characteristics identified by single nucleotide polymorphism array analysis in leukemia suggest the need for different application strategies depending on disease category. Genes Chromosom. Cancer, 52: 44–55. doi: 10.1002/gcc.22005
- Issue published online: 19 NOV 2012
- Article first published online: 28 SEP 2012
- Manuscript Accepted: 7 AUG 2012
- Manuscript Revised: 5 AUG 2012
- Manuscript Received: 20 JUN 2012
- National Research Foundation of Korea, Ministry of Education, Science and Technology of Korean Government (NRF, MEST). Grant Numbers: NRF 2009-0066966, &2010-0015528
- Korea Health 21 R&D Project, Ministry of Health and Welfare, Republic of Korea. Grant Number: A010385
The purpose of this study was to evaluate the detection rate of chromosomal rearrangements in leukemia using single nucleotide polymorphism array (SNP-A) in combination with metaphase cytogenetics (MC), with the aim of proposing a practical approach for clinical karyotyping applications of SNP-A. The Genome-Wide Human SNP Array 6.0 (Affymetrix, Santa Clara, CA) was applied in 469 patients with a variety of hematologic malignancies. Combined use of SNP-A with MC improved the detection rate in comparison with MC alone: acute myeloid leukemia (AML) with normal karyotype (NK), 32% versus 0%; core binding factor (CBF)-AML 40% versus 29%; myelodysplastic syndrome (MDS), 54% versus 39%; chronic myeloid leukemia (CML), 24% versus 3%; and acute lymphoblastic leukemia (ALL), 88% versus 63%. Different patterns of abnormalities (especially the type, size, and location) were noted in the leukemia subtypes. Copy neutral loss of heterozygosity lesions was detected in 23% of AML-NK, 3% of CBF-AML, 25% of MDS, 2% of CML, and 20% of ALL. SNP-A also provided information on cryptic deletions and a variety of aneuploidies in ALL, while the benefit was minimal in CML. In conclusion, different patterns of abnormal lesions were presented according to the disease category, thus requiring a different approach of adopting SNP-A-based karyotyping among different leukemia subtypes. © 2012 Wiley Periodicals, Inc.