PMID- 24269304 OWN - NLM STAT- MEDLINE DCOM- 20140131 LR - 20131202 IS - 2210-7762 (Print) VI - 206 IP - 9-10 DP - 2013 Sep-Oct TI - The advantage of using SNP array in clinical testing for hematological malignancies--a comparative study of three genetic testing methods. PG - 317-26 LID - S2210-7762(13)00124-5 [pii] LID - 10.1016/j.cancergen.2013.09.001 [doi] AB - Cytogenetic methods, including G-banded chromosome analysis and fluorescence in situ hybridization (FISH) analysis, serve as a critical part of routine clinical testing for hematological malignancies and provide important diagnostic and prognostic information; however, the limitations of cytogenetic methods, including the requirement for actively dividing cells and lower resolution of G-banded chromosome analysis as well as the inability of both G-banded chromosome analysis and FISH to detect copy number neutral loss of heterozygosity (CN-LOH), can result in a failure to detect genomic abnormalities with diagnostic and prognostic significance. Here, we compared the abnormality detection rate of clinically requested testing (i.e., G-banded chromosome analysis and FISH) with high-resolution oligo (i.e., array comparative genomic hybridization (aCGH)) and single-nucleotide polymorphism (SNP)/oligo hybrid (i.e., SNP-CGH) arrays in a series of patients, in an effort to assess the ability of newer technologies to overcome these limitations. This series found the detection rate for SNP-CGH to be 62.5% for myelodysplastic syndrome (MDS) cases and 72.7% for chronic lymphocytic leukemia (CLL) cases, which are significantly higher than the detection rates of aCGH (31.3% for MDS and 54.5% for CLL) and G-banding and/or FISH (43.8% for MDS and 54.5% for CLL). This demonstrates the advantages of combining SNP-CGH with conventional cytogenetics to provide comprehensive clinical information by detecting clonality, large balanced rearrangements, copy number aberrations, and CN-LOH. CI - Copyright (c) 2013 Elsevier Inc. All rights reserved. FAU - Xu, Xinjie AU - Xu X AD - University of Wisconsin Cytogenetic Services, Wisconsin State Laboratory of Hygiene, Madison, WI, USA; Department of Pediatrics, University of Wisconsin-Madison, Madison, WI, USA. FAU - Johnson, Eric B AU - Johnson EB FAU - Leverton, Lisa AU - Leverton L FAU - Arthur, Ashley AU - Arthur A FAU - Watson, Quinn AU - Watson Q FAU - Chang, Faye L AU - Chang FL FAU - Raca, Gordana AU - Raca G FAU - Laffin, Jennifer J AU - Laffin JJ LA - eng PT - Comparative Study PT - Journal Article DEP - 20131024 PL - United States TA - Cancer Genet JT - Cancer genetics JID - 101539150 SB - IM MH - Chromosome Aberrations MH - Chromosome Banding/methods MH - Comparative Genomic Hybridization/*methods MH - Early Detection of Cancer/*methods/statistics & numerical data MH - Hematologic Neoplasms/diagnosis/*genetics MH - Humans MH - In Situ Hybridization, Fluorescence/methods MH - *Polymorphism, Single Nucleotide MH - Reproducibility of Results MH - Sensitivity and Specificity OTO - NOTNLM OT - SNP array OT - chronic lymphocytic leukemia OT - loss of heterozygosity OT - myelodysplastic syndrome EDAT- 2013/11/26 06:00 MHDA- 2014/02/01 06:00 CRDT- 2013/11/26 06:00 PHST- 2012/11/15 00:00 [received] PHST- 2013/09/09 00:00 [revised] PHST- 2013/09/11 00:00 [accepted] PHST- 2013/11/26 06:00 [entrez] PHST- 2013/11/26 06:00 [pubmed] PHST- 2014/02/01 06:00 [medline] AID - S2210-7762(13)00124-5 [pii] AID - 10.1016/j.cancergen.2013.09.001 [doi] PST - ppublish SO - Cancer Genet. 2013 Sep-Oct;206(9-10):317-26. doi: 10.1016/j.cancergen.2013.09.001. Epub 2013 Oct 24.