Leukemia, Myelocytic, Acute
|
1.000 |
Biomarker
|
disease |
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 |
Leukemia, Myelocytic, Acute
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Deciphering the mutation spectrum of CEBPAdm AML could facilitate an in-depth understanding of the pathogenesis and refine the prognostic classification of this disease entity.
|
31477806 |
2019 |
Leukemia, Myelocytic, Acute
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To confirm this enhancer-dependent mechanism, we demonstrate that CEBPA mutations must occur as the initial event in AML initiation.
|
31784538 |
2019 |
Leukemia, Myelocytic, Acute
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The roles of SOX genes in AML are not entirely clear but emerging evidence, including that arising from studies in solid-cancers, showed that SOX genes can function as tumour suppressors or oncogenes and may be involved in key pathogenetic pathways in AML involving C/EBPα mutations, activation of β-catenin/Wnt and Hedgehog pathways and aberrant TP53 signals.
|
31698089 |
2019 |
Leukemia, Myelocytic, Acute
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Additionally, overexpression of miR-155 was found to be significantly related to FLT3/ITD presence (OR=4.751, 95%CI [3.229-6.990], P<0.001), more WT1 mutation (OR=2.090, 95%CI [1.240-3.522], P=0.006) and less CEBPA mutation (OR=0.477, 95%CI [0.286-0.794], P=0.004) in 552 AML patients.
|
30719163 |
2019 |
Leukemia, Myelocytic, Acute
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Classification of acute myeloid leukemia by the revised fourth edition World Health Organization criteria: a retrospective single-institution study with appraisal of the new entities of acute myeloid leukemia with gene mutations in NPM1 and biallelic CEBPA.
|
31077683 |
2019 |
Leukemia, Myelocytic, Acute
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CSF3R mutations were associated with an unfavorable prognosis in patients with acute myeloid leukemia with CEBPA double mutations.
|
31041512 |
2019 |
Leukemia, Myelocytic, Acute
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we demonstrate that the MLL1 histone-methyltransferase complex represents a critical actionable vulnerability in CEBPA-mutated AML.
|
30679799 |
2019 |
Leukemia, Myelocytic, Acute
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Germline CEBPA mutations in Korean patients with acute myeloid leukemia.
|
30563700 |
2019 |
Leukemia, Myelocytic, Acute
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Compared with chemotherapy as consolidation therapy, HSCT improved the prognosis and overcame the prognostic effect of karyotype from the initial diagnosis; however, the presence of FLT3-ITD or CEBPA mutation can predict prognosis in AML irrespective of HSCT.
|
30503388 |
2019 |
Leukemia, Myelocytic, Acute
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our data indicate that a link between CEBPA and the genes of the minimally deleted region, among them HNRNPK contributes to leukemogenesis in acute myeloid leukemia with del(9q).
|
30476680 |
2019 |
Leukemia, Myelocytic, Acute
|
1.000 |
Biomarker
|
disease |
CTD_human |
Subtype-specific regulatory network rewiring in acute myeloid leukemia.
|
30420649 |
2019 |
Leukemia, Myelocytic, Acute
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We hypothesized that "non-mutated" splicing regulators may also play a role in AML biology and therefore conducted an in vivo shRNA screen in a mouse model of CEBPA mutant AML.
|
30635567 |
2019 |
Leukemia, Myelocytic, Acute
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Mutant CEBPA directly drives the expression of the targetable tumor-promoting factor CD73 in AML.
|
31309149 |
2019 |
Leukemia, Myelocytic, Acute
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A simple cytofluorimetric score may optimize testing for biallelic CEBPA mutations in patients with acute myeloid leukemia.
|
31557597 |
2019 |
Leukemia, Myelocytic, Acute
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Therefore, MFC-MRD could predict relapse and was complementary to genetics for risk stratification treatment in bi CEBPA AML.
|
30773106 |
2019 |
Leukemia, Myelocytic, Acute
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The National Comprehensive Cancer Network (NCCN) defines the following types of acute myeloid leukemia (AML) as favorable-risk: acute promyelocytic leukemia with t(15;17) (APL); AML with core-binding factor (CBF) rearrangements, including t(8;21) and inv(16) or t(16;16) without mutations in KIT (CBF-KIT<sup>wt</sup>); and AML with normal cytogenetics and mutations in NPM1 (NPM1<sup>mut</sup>); or biallelic mutations in CEBPA (CEBPA<sup>mut/mut</sup>), without FLT3-ITD.
|
29310020 |
2018 |
Leukemia, Myelocytic, Acute
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
As a result, high TET1 expression was more common in M0/M1 morphology and genes of NPM1 mutations, and underrepresented in CEBPA double allele mutations in our AML patients.
|
29402726 |
2018 |
Leukemia, Myelocytic, Acute
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Biallelic mutations of the CCAAT/enhancer binding protein α (<i>CEBPA</i>) gene define a distinct genetic entity of acute myeloid leukemia (AML) with favorable prognosis.
|
30337300 |
2018 |
Leukemia, Myelocytic, Acute
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The CCAAT enhancer-binding protein α (C/EBPα) plays an important role in myeloid cell differentiation and in the enhancement of C/EBPα expression/activity, which can lead to granulocytic differentiation in acute myeloid leukemia (AML) cells.
|
30081475 |
2018 |
Leukemia, Myelocytic, Acute
|
1.000 |
Biomarker
|
disease |
BEFREE |
LSD1 inhibition exerts its antileukemic effect by recommissioning PU.1- and C/EBPα-dependent enhancers in AML.
|
29453291 |
2018 |
Leukemia, Myelocytic, Acute
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In order to clarify this point, we collected clinical data on consecutive unselected AML pts. assigned to favorable category (modified ELN 2010 due to the inclusion of double-mutated CEBPA-positive cases), diagnosed and treated in six centers of the Italian network Rete Ematologica Lombarda (REL) from 2007 to 2015.
|
30009341 |
2018 |
Leukemia, Myelocytic, Acute
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
We demonstrated that a main component of the block in differentiation in both types of AML is direct repression of the gene encoding the myeloid regulator C/EBPα by both fusion proteins.
|
29431622 |
2018 |
Leukemia, Myelocytic, Acute
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A comparison of these data with mutation frequencies in persons of predominately European-descent with AML indicates a higher frequency of CEBPA mutations, a similar frequency of IDH2 mutations and lower frequencies of NPM1, IDH1 and WT1 mutations.
|
29727824 |
2018 |
Leukemia, Myelocytic, Acute
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in CCAAT/enhancer binding protein α (<i>CEBPA</i>) occur in 5-10% of cases of acute myeloid leukemia.
|
28250006 |
2017 |