MYELODYSPLASTIC SYNDROME
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Gene set enrichment analysis revealed that the GFI1-SE deletion impaired NCD38-induced programs related to granulocyte differentiation and the CEBPA network, but restored NCD38-suppressed programs related to erythroid development, GATA1 targets, and acute myeloid leukemia (AML) clusters including FAB subtype M6 and AML with myelodysplastic syndrome-related chromosomal abnormalities.
|
31676828 |
2020 |
MYELODYSPLASTIC SYNDROME
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Genetic predispositions to myeloid malignancies can be classified into three categories: familial cancer syndromes associated with increased risk of various malignancies including myelodysplasia and acute myeloid leukemia such as Li-Fraumeni syndrome and constitutional mismatch repair deficiency (CMMRD); germline mutations conferring a specific increased risk of myelodysplastic syndrome and acute myeloid leukemia such as mutations in ANKRD26, CEBPA, DDX41, ETV6, GATA2, RUNX1, SRP72 genes; and finally primarily pediatric inherited bone marrow failure syndromes such as Fanconi anemia, dyskeratosis congenita, severe congenital neutropenia, Shwachman-Diamond syndrome and Diamond Blackfan anemia.
|
31203998 |
2019 |
MYELODYSPLASTIC SYNDROME
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Our approach indicated new molecular subtypes with differential survival and drug responsiveness among samples lacking fusion genes, including a novel myelodysplastic syndrome-like cluster and a cluster characterized with CEBPA mutations and differential activity of the S-adenosylmethionine-dependent DNA methylation pathway.
|
31329928 |
2019 |
MYELODYSPLASTIC SYNDROME
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Referral reasons included (1) bone marrow failure or myelodysplastic syndrome in patients ≤ 50 years, (2) evaluation for germ-line inheritance of identified RUNX1, GATA2, or CEBPA mutations on targeted next-generation sequencing panels, and (3) strong personal and/or family history of malignancy.
|
27210295 |
2016 |
MYELODYSPLASTIC SYNDROME
|
0.400 |
Biomarker
|
group |
BEFREE |
Our findings indicate that CEBPA methylation is a common event in MDS, but could not act as a prognostic biomarker for MDS patients.
|
26025484 |
2015 |
MYELODYSPLASTIC SYNDROME
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Additional specific genomic events, were identified, namely FLT3 and CEBPA mutations in MDS/AML, and NOTCH1 mutations and MYB duplication in T-ALL.
|
26004809 |
2015 |
MYELODYSPLASTIC SYNDROME
|
0.400 |
AlteredExpression
|
group |
BEFREE |
Up-regulation of translation eukaryotic initiation factor 4E in nucleophosmin 1 haploinsufficient cells results in changes in CCAAT enhancer-binding protein α activity: implications in myelodysplastic syndrome and acute myeloid leukemia.
|
22851180 |
2012 |
MYELODYSPLASTIC SYNDROME
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Both mono- and bi-allelic CEBPA mutations were detected in acute myeloid leukaemia and myelodysplastic syndrome.
|
20492756 |
2010 |
MYELODYSPLASTIC SYNDROME
|
0.400 |
GeneticVariation
|
group |
BEFREE |
CEBPA mutations cause a myeloid differentiation block and were detected in acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), multiple myeloma and non-Hodgkin's lymphoma (NHL) patients.
|
19651529 |
2009 |
MYELODYSPLASTIC SYNDROME
|
0.400 |
GeneticVariation
|
group |
LHGDN |
CEBPA mutations were found in 14/152 (9.2%) of acute myeloid leukemia (AML) patients' samples, 6/143 (4.2%) of MDS patients' samples, 2/56 (3.6%) of non-Hodgkin's lymphoma (NHL) patients' samples and 2/39 (5.1%) of multiple myeloma (MM) patients' samples.
|
18182175 |
2008 |
MYELODYSPLASTIC SYNDROME
|
0.400 |
GeneticVariation
|
group |
BEFREE |
CEBPA mutations were found in 14/152 (9.2%) of acute myeloid leukemia (AML) patients' samples, 6/143 (4.2%) of MDS patients' samples, 2/56 (3.6%) of non-Hodgkin's lymphoma (NHL) patients' samples and 2/39 (5.1%) of multiple myeloma (MM) patients' samples.
|
18182175 |
2008 |
MYELODYSPLASTIC SYNDROME
|
0.400 |
AlteredExpression
|
group |
BEFREE |
Whereas multiple previous MDS genetic screens failed to identify altered expression of the gene encoding the myeloid transcription factor CEBPA, stage-specific and extensive down-regulation of CEBPA was specifically observed in MDS progenitors.
|
17616640 |
2007 |
MYELODYSPLASTIC SYNDROME
|
0.400 |
GeneticVariation
|
group |
LHGDN |
The emergence of a C/EBPalpha mutation in the clonal evolution of MDS towards secondary AML.
|
12592334 |
2003 |
MYELODYSPLASTIC SYNDROME
|
0.400 |
AlteredExpression
|
group |
BEFREE |
Mutations in the gene encoding the transcription factor CCAAT/enhancer binding protein alpha in myelodysplastic syndromes and acute myeloid leukemias.
|
11830484 |
2002 |
MYELODYSPLASTIC SYNDROME
|
0.400 |
CausalMutation
|
group |
CGI |
|
|
|