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| Status |
Public on Feb 07, 2012 |
| Title |
High-Resolution Genomic Profiling of Adult and Pediatric Core-Binding-Factor Acute Myeloid Leukemia Reveals New Recurrent Genomic Alterations |
| Organism |
Homo sapiens |
| Experiment type |
SNP genotyping by SNP array
Genome variation profiling by SNP array
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| Summary |
To identify cooperating lesions in core-binding-factor acute myeloid leukemia (CBF-AML), we performed single-nucleotide polymorphism (SNP)-array analysis on 300 diagnostic and 41 relapse adult and pediatric leukemia samples. We identified a mean of 1.28 copy number alterations (CNAs) per case at diagnosis in both patient populations. Recurrent minimally deleted regions (MDRs) were identified at 7q36.1 (7.7%), 9q21.13 (5%), 11p13 (2.3%), and 17q11.2 (2%). Recurrent focal gains were identified at 8q24.21 (4.7%) and 11q25 (1.7%), both containing a single non-coding RNA. Recurrent regions of copy-neutral loss-of-heterozygosity were identified at 1p (1%), 4q (0.7%), and 19p (0.7%), with known mutated cancer genes present in the minimally altered region. Analysis of relapse samples identified recurrent MDRs at 3q13 (12.2%), 5q (4.9%), and 17p (4.9%).
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| Overall design |
SNP genotyping was performed on 300 adult and pediatric CBF-AMLs; t(8;21), n=157 (adult, n=114; pediatric, n=43); and inv(16), n=143 (adult, n=104; pediatric, n=39). Germline control DNA from remission bone marrow or peripheral blood was available for paired analysis in 175 patients. In addition, for 41 patients, matched relapse samples were analyzed. Data were processed using reference alignment, dChipSNP and circular binary segmentation.
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| Contributor(s) |
Kühn MW, Radtke I, Bullinger L, Goorha S, Cheng J, Edelmann J, Gohlke J, Su X, Paschka P, Pounds S, Krauter J, Ganser A, Quessar A, Ribeiro R, Gaidzik VI, Shurtleff S, Krönke J, Holzmann K, Ma J, Schlenk RF, Rubnitz JE, Döhner K, Döhner H, Downing JR |
| Citation(s) |
22234698 |
| Submission date |
Sep 28, 2011 |
| Last update date |
Nov 27, 2018 |
| Contact name |
Guangchun Song |
| Phone |
901-595-5722
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| Organization name |
St Jude Children's Research Hospital
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| Department |
Pathology
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| Lab |
Klco
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| Street address |
262 Danny Thomas Place
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| City |
Memphis |
| State/province |
TN |
| ZIP/Postal code |
38105 |
| Country |
USA |
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| Platforms (1) |
| GPL6801 |
[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array |
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| Samples (516)
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| Relations |
| BioProject |
PRJNA147873 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE32462_RAW.tar |
14.6 Gb |
(http)(custom) |
TAR (of CEL) |
| Processed data included within Sample table |
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