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Series GSE8721 Query DataSets for GSE8721
Status Public on May 06, 2008
Title Novel regions of acquired uniparental disomy discovered in acute myeloid leukemia
Organism Homo sapiens
Experiment type Genome variation profiling by SNP array
SNP genotyping by SNP array
Summary The acquisition of uniparental disomy (aUPD) in acute myeloid leukemia (AML) results in homozygosity for known gene mutations. Uncovering novel regions of aUPD has the potential to identify previously unknown mutational targets, therefore, we aimed to develop a comprehensive map of the regions of aUPD in AML. Here, we have analyzed a large set of diagnostic AML samples (n=455) using genotype arrays. Acquired UPD was found in 17% of the samples with a non-random distribution particularly affecting chromosomes 13q, 11p and 11q. Novel recurrent regions of aUPD were uncovered at 2p, 17p, 2q, 17q, 1p and Xq. Overall, aUPDs were observed across all cytogenetic risk groups, although samples with aUPD13q (5.4% of samples) belonged exclusively to the intermediate-risk group. All cases with a high FLT3-ITD level, measured previously, had aUPD13q covering the FLT3 gene. Of the 120 aUPDs observed, the majority (87%) were due to mitotic recombination while only 13% were due to non-disjunction. This study demonstrates aUPD is a frequent and significant finding in AML and pinpoints regions that may contain novel mutational targets.
Keywords: Genomic analysis of AML samples
 
Overall design Genomic DNA from 459 diagnostic AML samples were analysed using Affymetrix 10K 2.0 SNP arrays. Genomic DNA from the blood of ten unrelated controls was used as reference for all 459 AML samples. Remission DNA from 8 AML samples was also studied. Prevalence and regions of homozygosity were identified.
 
Contributor(s) Gupta M, Raghavan M, Gale RE, Chelala C, Allen C, Molloy G, Chaplin T, Linch DC, Cazier J, Young BD
Citation(s) 18506749
Submission date Aug 08, 2007
Last update date Mar 17, 2012
Contact name Manu Gupta
E-mail(s) m.gupta@rbht.nhs.uk
Organization name Queen Mary University of London
Department Medical Oncology
Street address Charterhouse Sq.
City London
ZIP/Postal code EC1M 6BQ
Country United Kingdom
 
Platforms (1)
GPL2641 [Mapping10K_Xba142] Affymetrix Human Mapping 10K 2.0 Array
Samples (467)
GSM215879 AML sample number AML10_1; diagnostic sample
GSM215880 AML sample number AML10_2; diagnostic sample
GSM215881 AML sample number AML10_3; diagnostic sample
Relations
BioProject PRJNA101969

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE8721_RAW.tar 959.0 Mb (http)(custom) TAR (of CEL, CHP)
Processed data included within Sample table
Processed data provided as supplementary file
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