CEBPA, CCAAT enhancer binding protein alpha, 1050

N. diseases: 201; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
1.000 Biomarker disease CLINGEN Germline CEBPA mutations in Korean patients with acute myeloid leukemia. 30563700 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
1.000 Biomarker disease CTD_human Subtype-specific regulatory network rewiring in acute myeloid leukemia. 30420649 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
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
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
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