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| Status |
Public on Dec 01, 2009 |
| Title |
Identification of Acquired Copy Number Alterations and Uniparental Disomies in Cytogenetically Normal AML |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by SNP array
|
| Summary |
Identification of Acquired Copy Number Alterations and Uniparental Disomies in Cytogenetically Normal Acute Myeloid Leukemia Using High-Resolution Single Nucleotide Polymorphism Analysis
Recent advances in genome-wide single nucleotide polymorphism (SNP) analyses have revealed previously unrecognized microdeletions and uniparental disomy (UPD) in a broad spectrum of human cancers. As acute myeloid leukemia (AML) represents a genetically heterogeneous disease, this technology might prove helpful especially for cytogenetically normal AML (CN-AML) cases. Thus, we performed high-resolution SNP analyses in 157 adult cases of CN-AML. Regions of acquired UPD were identified in 12% of cases and most frequently affected chromosomes 6p, 11p, and 13q. Notably, acquired UPD was invariably associated with mutations in NPM1 or CEBPA that impair hematopoietic differentiation (P=0.008), suggesting that UPDs may preferentially target genes that are essential for proliferation and survival of hematopoietic progenitors. Acquired copy number alterations (CNAs) were detected in 49% of cases with losses found in two or more cases affecting e.g. chromosome bands 3p13-p14.1 and 12p13. Furthermore, we identified two cases with a cryptic t(6;11) as well as several non-recurrent aberrations pointing to leukemia relevant regions. With regard to clinical outcome, there appeared to be an association between UPD 11p and UPD 13q cases with overall survival. These data demonstrate the potential of high-resolution SNP analysis for identifying genomic regions of potential pathogenic and clinical relevance in AML.
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| Overall design |
Copy number analysis of Affymetrix 50K and/ or 500K SNP arrays was performed for 157 adult AML samples
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| Contributor(s) |
Kroenke J, Bullinger L, Doehner H |
| Citation(s) |
20016533 |
| Submission date |
Nov 19, 2009 |
| Last update date |
Dec 22, 2017 |
| Contact name |
Jan Kroenke |
| E-mail(s) |
jankroenke@gmx.de
|
| Organization name |
University Hospital of Ulm
|
| Department |
Department of Internal Medicine III
|
| Lab |
Molecular Genetics of Myeloid Leukemia
|
| Street address |
Albert-Einstein-Allee 23
|
| City |
Ulm |
| ZIP/Postal code |
89081 |
| Country |
Germany |
| |
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| Platforms (4)
|
| GPL2004 |
[Mapping50K_Hind240] Affymetrix Human Mapping 50K Hind240 SNP Array |
| GPL2005 |
[Mapping50K_Xba240] Affymetrix Human Mapping 50K Xba240 SNP Array |
| GPL3718 |
[Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array |
| GPL3720 |
[Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array |
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| Samples (510)
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| Relations |
| BioProject |
PRJNA120527 |
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