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Status |
Public on May 22, 2014 |
Title |
Genome-wide Genotyping of Acute Myeloid Leukemia with Translocation t(9;11)(p22;q23) Reveals Novel Recurrent Genomic Alterations |
Organism |
Homo sapiens |
Experiment type |
SNP genotyping by SNP array
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Summary |
To identify cooperating lesions in de novo and therapy-related acute myeloid leukemia (t-AML) with translocation t(9;11)(p22;q23) we performed high-resolution SNP-array profiling on 40 leukemia samples [de novo: n=22; t-AML: n=16; unknown: n=2]. A mean of 1.73 copy number alterations (CNAs)/case were identified with no differences between de novo and t-AML cases. We identified a novel minimally deleted region (MDR) at 7q36.1-q36.2 partly overlapping with a MDR previously identified in core-binding factor AML; MLL3 was the only gene affected in both regions. In addition, a recurrent gain was found at 13q21.33-q22.1 harboring the potential oncogene KLF5. Sequence/expression analysis of selected candidate genes revealed deregulated EVI1 at high frequency (50%). Copy-neutral loss-of-heterozygosity (CN-LOH) was absent in the paired cohort Further analysis of the candidate genes might provide novel insights into the pathogenesis of t(9;11) AML
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Overall design |
SNP genotyping was performed on 40 de novo and therapy-related MLL-MLLT3-rearranged acute myeloid leukemia samples; Germline control DNA from remission bone marrow or peripheral blood was available for paired analysis in 15 patients. Data were processed using reference alignment, dChipSNP and circular binary segmentation.
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Contributor(s) |
Kühn MW, Bullinger L, Gröschel S, Krönke J, Edelmann J, Rücker FG, Eiwen K, Paschka P, Gaidzik VI, Holzmann K, Schlenk RF, Döhner H, Döhner K |
Citation(s) |
24859875 |
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Submission date |
May 08, 2013 |
Last update date |
Aug 16, 2019 |
Contact name |
Michael Kuehn |
E-mail(s) |
michael.kuehn@uniklinik-ulm.de
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Organization name |
University Hospital of Ulm
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Street address |
Albert-Einstein-Allee 23
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City |
Ulm |
ZIP/Postal code |
89081 |
Country |
Germany |
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Platforms (1) |
GPL6801 |
[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array |
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Samples (55)
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Relations |
BioProject |
PRJNA202234 |