This tab shows an overview of the selected study/paper [more details]
Reference

GATA2 zinc finger 1 mutations associated with biallelic CEBPA mutations define a unique genetic entity of acute myeloid leukemia.

Paper Id
COSP28918
Authors
Greif PA,Dufour A,Konstandin NP,Ksienzyk B,Zellmeier E,Tizazu B,Sturm J,Benthaus T,Herold T,Yaghmaie M,Dörge P,Hopfner KP,Hauser A,Graf A,Krebs S,Blum H,Kakadia PM,Schneider S,Hoster E,Schneider F,Stanulla M,Braess J,Sauerland MC,Berdel WE,Büchner T,Woermann BJ,Hiddemann W,Spiekermann K and Bohlander SK
Affiliation
Department of Internal Medicine 3, Ludwig-Maximilians-Universitaet (LMU), Munich, Germany;
Journal
Blood 2012
ISSN:1528-0020
PUBMED:22649106
Abstract
Cytogenetically normal acute myeloid leukemia (CN-AML) with biallelic CEBPA gene mutations (biCEBPA) represents a distinct disease entity with a favorable clinical outcome. So far, it is not known if other genetic alterations cooperate with biCEBPA mutations during leukemogenesis. To identify additional mutations, we performed whole exome sequencing of five biCEBPA patients and detected somatic GATA2 zinc finger 1 (ZF1) mutations in 2 out of 5 cases. Both GATA2 and CEBPA are transcription factors crucial for hematopoietic development. Inherited or acquired mutations in both genes have been associated with leukemogenesis. Further mutational screening detected novel GATA2 ZF1 mutations in 13 of 33 biCEBPA positive CN-AML patients (13/33: 39.4%). No GATA2 mutations were found in 38 CN-AML patients with a monoallelic CEBPA mutation and in 89 CN-AML patients with wild-type CEBPA status. In reporter gene assays, all tested GATA2 ZF1 mutants showed reduced capacity to enhance CEBPA-mediated activation of transcription, suggesting that the GATA2 ZF1 mutations may collaborate with biCEPBA mutations to deregulate target genes during malignant transformation. We thus provide evidence for a genetically distinct subgroup of CN-AML. The AMLCG trials 1999 and 2008 are registered with the identifiers NCT00266136 and NCT01382147 at www.clinicaltrials.gov.
Paper Status
Curated
Genes Analysed
26
Mutated Samples
33
Total No. of Samples
160
This tab shows genes with mutations in the selected study/paper [more details]
Genes Samples CDS Mutation AA Mutation
This tab shows genes without mutations in the selected study/paper [more details]
Non-Mutant Genes Gene Id (COSG)
This tab shows samples without mutations in the selected study/paper [more details]
Non-Mutant Samples Sample Id (COSS)
This tab shows mutated samples in the selected study/paper [more details]
Sample Name Mutation Count
This tab shows non coding variant in the selected study/paper [more details]
Sample ID Sample Name ID NCV Annotation Zygosity Chromosome Genome start Genome stop Genome version Strand WT seq Mut seq
This tab shows the copy number variation data for this study. Only variants (classified as gain or loss) are listed. [more details]
CNV Gene Sample Position Minor Allele Copy Number Average Ploidy

1. N/A represents cases where average ploidy value is not available( mostly ICGC samples). For some TCGA samples where minor allele information is not available the average ploidy value could not be calculated.

2. For TCGA samples, Ascat algorithm is used to calculate the average ploidy.

3. For CGP samples, Picnic algorithm is used to calculate the average ploidy.

Type
This tab shows a table of count of samples having gain or loss for all genes [more details]
Gene Gain Samples Loss Samples Samples Tested
This tab shows the fusion mutations observed in this sample [more details]
Gene Sample Name Id Sample(COSS) CDS Mutation Somatic status Zygosity Validated Type