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Links from GEO DataSets

Items: 20

1.

Gene expression profiles of mono- and biallelic CEBPA mutations in cytogenetically normal AML

(Submitter supplied) Purpose: CEBPA mutations are found as either biallelic (biCEBPA) or monoallelic (moCEBPA). We set out to explore whether the kind of CEBPA mutation is of prognostic relevance in cytogenetically normal AML (CN-AML). Patients and Methods: 467 homogeneously treated CN-AML patients were subdivided into moCEBPA, biCEBPA and wildtype (wt) CEBPA patients. The subgroups were analyzed for clinical parameters and for additional mutations in the NPM1, FLT3 and MLL genes. more...
Organism:
Homo sapiens
Type:
Expression profiling by array
Platform:
GPL8289
61 Samples
Download data: CEL
Series
Accession:
GSE15210
ID:
200015210
2.

Multilineage dysplasia and AML with mutated nucleophosmin

(Submitter supplied) Multilineage dysplasia (MLD) has no impact on biological, clinico-pathological and prognostic features of AML with mutated nucleophosmin (NPM1) NPM1-mutated AML is a provisional entity in the WHO-2008 classification of myeloid neoplasms. The significance of concomitant multilineage dysplasia (MLD) in NPM1-mutated AML is unclear. Thus, in the WHO-2008 classification, NPM1-mutated AML with MLD is classified as AML with myelodysplasia(MD)-related changes. more...
Organism:
Homo sapiens
Type:
Expression profiling by array
Platform:
GPL570
48 Samples
Download data: CEL
Series
Accession:
GSE18018
ID:
200018018
3.

RUNX1 mutated cases in acute myeloid leukemia share a distinct biological subgroup and are associated with inferior outcome. Results of the AML Study Group (AMLSG).

(Submitter supplied) PURPOSE: To evaluate frequency, biological features and clinical relevance of RUNX1 mutations in acute myeloid leukemia (AML). PATIENTS AND METHODS: Diagnostic samples from 945 patients (18 to 60 years) were analyzed for RUNX1 mutations. In a subset of cases (n=269) microarray gene expression analysis was performed. RESULTS: Fifty-nine RUNX1 mutations were identified in 53 of 945 (5.6%) cases, predominantly in exons 3 (n=11), 4 (n=10) and 8 (n=23). more...
Organism:
Homo sapiens
Type:
Expression profiling by array
9 related Platforms
269 Samples
Download data
Series
Accession:
GSE23312
ID:
200023312
4.

Methylation of the Proximal, Distal and Core Promoter of CEBPA in 572 Cases with Normal Karyotpye AML and 44 with t(8;21) Disclosed Different Frequencies but no Impact on Prognosis

(Submitter supplied) The clinical impact of aberrant CEBPA promoter methylation (PM) in AML is controversial discussed. The aim of this study was to clarify the significance of aberrant CEBPA PM with regard to clinical features in a cohort of 572 de novo AML with wildtype CEBPA and normal karyotype. The distal promoter was methylated in 54/572 cases (9.41%) whereas proximal PM was never detected. Methylation of the core promoter was detected in only 8 of 326 cases (2.45%) and thus seems to be a rare event in AML. more...
Organism:
Homo sapiens
Type:
Expression profiling by array
Platform:
GPL570
37 Samples
Download data: CEL
Series
Accession:
GSE34733
ID:
200034733
5.

Gene expression profiling of CEBPA double and single mutant and CEBPA wild type AML.

(Submitter supplied) Mutations in CCAAT/enhancer binding protein alpha (CEBPA) are seen in 5-14% of acute myeloid leukemia (AML) and have been associated with a favorable clinical outcome. Most AMLs with CEBPA mutations simultaneously carry two mutations (CEBPAdouble-mut), usually biallelic, while single heterozygous mutations (CEBPAsingle-mut) are less frequently seen. Using denaturing high performance liquid chromatography and nucleotide sequencing we identified among a cohort of 598 newly diagnosed AMLs a subset of 41 CEBPA mutant cases, i.e. more...
Organism:
Homo sapiens
Type:
Expression profiling by array
Platform:
GPL570
526 Samples
Download data: CEL
Series
Accession:
GSE14468
ID:
200014468
6.

AML with mutated NPM1 carrying a normal or aberrant karyotype show overlapping features

(Submitter supplied) AML with mutated NPM1 usually carries normal karyotype (NK) but it may harbor chromosomal aberrations whose significance remains unclear. We addressed this question in 631 AML patients with mutated/cytoplasmic NPM1. An abnormal karyotype (AK) was present in 93/631 cases (14.7%), the most frequent abnormalities being +8, +4, -Y, del(9q), +21. Chromosome aberrations in NPM1-mutated AML were similar to, but occurred less frequently than additional chromosome changes found in other AML with recurrent cytogenetic abnormalities according to WHO classification. more...
Organism:
Homo sapiens
Type:
Expression profiling by array
Platform:
GPL570
107 Samples
Download data: CEL
Series
Accession:
GSE16015
ID:
200016015
7.

Acute myeloid leukemia with CEBPA double-mutations harbors in 76.8% of cases concomitant molecular mutations with TET2 and GATA2 alterations demonstrating strong prognostic impact

(Submitter supplied) Acute myeloid leukemia (AML) with CEBPA mutations is determined as provisional entity in the current WHO. A difference in clinical outcome between single- (sm) and double-mutated (dm) cases has been reported, whereupon dm cases were shown to be associated with longer overall survival (OS). The occurrence and prognostic impact of concomitant molecular mutations in addition to CEBPAdm has not been assessed until now. more...
Organism:
Homo sapiens
Type:
Expression profiling by array
Platform:
GPL570
38 Samples
Download data: CEL
Series
Accession:
GSE42064
ID:
200042064
8.

Gene expression profiling of CEBPA double-, single-mutant and CEBPA wild type AML

(Submitter supplied) A previously predictive CEBPA double mutant (CEBPAdm) signature was hampered by the recently reported CEBPA silenced AML cases that carry a similar gene expression profile (GEP). Two independent AML cohorts were used to train and evaluate the predictive value of the CEBPAdm signature in terms of sensitivity and specificity. A predictive signature was created, containing 25-probe sets by using a logistic regression model with Lasso regularization, which selects discriminative probe sets between the classes, CEBPAdm and all other AML cases, CEBPA wild type (CEBPAwt) and CEBPA single mutant (CEBPAsm). more...
Organism:
Homo sapiens
Type:
Expression profiling by array
Dataset:
GDS4278
Platform:
GPL570
154 Samples
Download data: CEL
Series
Accession:
GSE22845
ID:
200022845
9.
Full record GDS4278

Acute myeloid leukemia with CEBPA mutations [AMLSG cohort]: mononuclear cells

Analysis of mononuclear cells from bone marrow of untreated AML patients with CCAAT/enhancer binding protein alpha double mutation (CEBPAdm) or single mutation (CEBPAsm). Favorable outcome is observed in AML patients with CEBPAdm. Results provide insight into molecular basis of AML classification.
Organism:
Homo sapiens
Type:
Expression profiling by array, transformed count, 5 disease state, 3 genotype/variation sets
Platform:
GPL570
Series:
GSE22845
154 Samples
Download data: CEL
DataSet
Accession:
GDS4278
ID:
4278
10.

Multilineage dysplasia does not influence prognosis in patients with CEBPA mutated AML supporting the WHO proposal to classify these patients as a unique entity

(Submitter supplied) By WHO 2008, CEBPA-mutated AML became a provisional subentity, but it remains to be clarified how CEBPAmut AML with multilineage dysplasia (MLD; ≥50% dysplastic cells in 2-3 lineages) but no other MDS-related feature should be classified. We investigated 108 CEBPAmut AML (15.7-87.6 years) for the impact of MLD and genetic features. MLD-positive patients differed from MLD-negative only by lower mean WBC counts (p=0.004), but not by other blood values, biologic characteristics, cytogenetic risk profiles, or additional molecular markers (NPM1mut, FLT3-ITD/TKD, RUNX1, MLL-PTD, IDH1/2). more...
Organism:
Homo sapiens
Type:
Expression profiling by array
Dataset:
GDS4407
Platform:
GPL570
30 Samples
Download data: CEL
Series
Accession:
GSE33223
ID:
200033223
11.
Full record GDS4407

Biallelic CEBPA-mutated acute myeloid leukemia with multilineage dysplasia: peripheral blood mononuclear cells

Analysis of PBMCs from biallelic CEBPA (encoding CCAAT/enhancer binding protein)-mutated, acute myeloid leukemia (AML) patients with or without multilineage dysplasia (MLD). Cases without CEBPA mutations also examined. Results provide insight into the classification of CEBPA-mutated AML patients.
Organism:
Homo sapiens
Type:
Expression profiling by array, transformed count, 3 disease state, 2 genotype/variation sets
Platform:
GPL570
Series:
GSE33223
30 Samples
Download data: CEL
DataSet
Accession:
GDS4407
ID:
4407
12.

Whole-exome sequencing identifies mutations of BCOR in acute myeloid leukemia with normal karyotype

(Submitter supplied) Among acute myeloid leukemias (AML) with normal karyotype (CN-AML), NPM1 and CEBPA mutations define WHO provisional entities accounting for ~60% of cases, but the remaining ~40% remains poorly characterized. By whole exome-sequencing (WES) of one CN-AML patient lacking mutations in NPM1, CEBPA, FLT3, MLL-PTD and IDH1, we newly identified a clonal somatic mutation in BCOR (BCL6 co-repressor), a gene located in chromosome X. more...
Organism:
Homo sapiens
Type:
Expression profiling by array
Dataset:
GDS4280
Platform:
GPL570
24 Samples
Download data: CEL
Series
Accession:
GSE30442
ID:
200030442
13.
Full record GDS4280

BCL6 corepressor somatic mutation in acute myeloid leukemia with normal karyotype: Ficoll-enriched mononuclear cells

Analysis of mononuclear cells from normal karyotype, acute myeloid leukemia (CN-AML) patients with BCL6 corepressor (BCOR) mutation. CN-AML BCOR mutations are associated with oculo-facio-cardiodental genetic syndrome and poor outcome. Results provide insight into role of BCOR in CN-AML pathogenesis.
Organism:
Homo sapiens
Type:
Expression profiling by array, transformed count, 2 genotype/variation sets
Platform:
GPL570
Series:
GSE30442
24 Samples
Download data: CEL
DataSet
Accession:
GDS4280
ID:
4280
14.

Synergistic Targeting of FLT3 Mutations in AML via Combined Menin-MLL and FLT3 Inhibition

(Submitter supplied) The interaction of Menin (MEN1) and MLL (MLL1, KMT2A) is a dependency and potential therapeutic opportunity against NPM1 mutant (NPM1mut) and MLL-rearranged (MLL-r) leukemias. Concomitant activating driver mutations in the gene encoding the tyrosine kinase FLT3 occur in both leukemias and are particularly common in the NPM1mut subtype. Transcriptional profiling upon pharmacological inhibition of the Menin-MLL complex revealed specific changes in gene expression with downregulation of the MEIS1 transcription factor and its transcriptional target gene FLT3 being most pronounced. more...
Organism:
Homo sapiens
Type:
Expression profiling by high throughput sequencing
Platform:
GPL20301
24 Samples
Download data: TXT
15.

Targeting Chromatin Regulators Inhibits Leukemogenic Gene Expression in NPM1 Mutant Leukemia

(Submitter supplied) Homeobox (HOX) proteins and the receptor tyrosine kinase FLT3 are frequently highly expressed and mutated in acute myeloid leukemia (AML). Aberrant HOX expression is found in nearly all AMLs that harbor a mutation in the Nucleophosmin (NPM1) gene, and FLT3 is concomitantly mutated in approximately 60% of these cases. Little is known how mutant NPM1 (NPM1mut) cells maintain aberrant gene expression. Here, we demonstrate that the histone modifiers MLL1 and DOT1L control HOX and FLT3 expression and differentiation in NPM1mut AML. Using a CRISPR-Cas9 genome editing domain screen, we show NPM1mut AML to be exceptionally dependent on the menin binding site in MLL1. Pharmacological small-molecule inhibition of the menin-MLL protein interaction had profound anti-leukemic activity in human and murine models of NPM1mut AML in vitro and in vivo. Combined pharmacological inhibition of menin-MLL and DOT1L resulted in dramatic suppression of HOX and FLT3 expression, induction of differentiation, and superior activity against NPM1mut leukemia. Together, MLL1 and DOT1L are chromatin regulators that control HOX, MEIS1 and FLT3 expression and are therapeutic targets in NPM1mut AML. Combinatorial small-molecule inhibition has synergistic on target activity and constitutes a novel therapeutic concept for this common AML subtype.
Organism:
Homo sapiens
Type:
Expression profiling by high throughput sequencing
Platform:
GPL11154
13 Samples
Download data: TXT
16.

Expression data from pediatric AML patients

(Submitter supplied) Pediatric acute myeloid leukemia (AML) is a heterogeneous disease characterized by non-random genetic aberrations related to outcome. Detecting these aberrations however still lead to failures or false negative results. Therefore, we focused on the potential of gene expression profiles (GEP) to classify pediatric AML. Gene expression microarray data of 237 children with AML were generated and cases were split into a discovery cohort (n=157) and an independent validation cohort (n=80). more...
Organism:
Homo sapiens
Type:
Expression profiling by array
Platform:
GPL570
237 Samples
Download data: CEL
Series
Accession:
GSE17855
ID:
200017855
17.

Expression profile and whole genome SNP data from acute monocytic leukemia patients

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.
Organism:
Homo sapiens
Type:
Expression profiling by array; Genome variation profiling by SNP array; SNP genotyping by SNP array
Platforms:
GPL570 GPL8887 GPL8888
19 Samples
Download data: CEL
Series
Accession:
GSE27244
ID:
200027244
18.

Detection of mutant NPM1 mRNA in acute myeloid leukemia (AML) using custom gene expression arrays

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.
Organism:
Homo sapiens
Type:
Other
Platform:
GPL16267
648 Samples
Download data: CEL
Series
Accession:
GSE42202
ID:
200042202
19.

Detection of mutant NPM1 mRNA in acute myeloid leukemia (AML) using custom gene expression arrays [Validation cohort]

(Submitter supplied) Abstract Mutations in the gene encoding nucleophosmin (NPM1) carry prognostic value for patients with acute myeloid leukemia (AML). Various techniques are currently being used to detect these mutations in routine molecular diagnostics. Incorporation of accurate NPM1 mutation detection on a gene expression platform would enable simultaneous detection with various other expression biomarkers. Here we present an array based mutation detection using custom probes for NPM1 WT mRNA and NPM1 type A, B, and D mutant mRNA. more...
Organism:
Homo sapiens
Type:
Other
Platform:
GPL16267
143 Samples
Download data: CEL, TXT
Series
Accession:
GSE42200
ID:
200042200
20.

Detection of mutant NPM1 mRNA in acute myeloid leukemia (AML) using custom gene expression arrays [Training cohort]

(Submitter supplied) Abstract Mutations in the gene encoding nucleophosmin (NPM1) carry prognostic value for patients with acute myeloid leukemia (AML). Various techniques are currently being used to detect these mutations in routine molecular diagnostics. Incorporation of accurate NPM1 mutation detection on a gene expression platform would enable simultaneous detection with various other expression biomarkers. Here we present an array based mutation detection using custom probes for NPM1 WT mRNA and NPM1 type A, B, and D mutant mRNA. more...
Organism:
Homo sapiens
Type:
Other
Platform:
GPL16267
505 Samples
Download data: CEL, TXT
Series
Accession:
GSE42194
ID:
200042194
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