acute myeloid leukemia with CEBPA somatic mutations

Summary

acute myeloid leukemia with CEBPA somatic mutations (MONDO:0017894) is a cancer with 1 cohort gene (1 CIViC-evidence somatic driver).

At a glance

• Classification: Cancer
• Cohort genes: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	acute myeloid leukemia with CEBPA somatic mutations
Mondo ID	MONDO:0017894
Orphanet	319480
DOID	DOID:0081095
NCIT	C82433
SNOMED CT	764855007
UMLS	C4707178
MedGen	1640289
GARD	0017451
Is cancer (heuristic)	yes

Also known as: acute myeloid Leukaemia with mutated CEBPA · acute myeloid Leukaemia with non-germline mutated CEBPA · acute myeloid Leukemia with mutated CEBPA · acute myeloid Leukemia with non-germline mutated CEBPA · AML with CEBPA somatic mutations · AML with mutated CEBPA · non-familial acute myeloid leukaemia with mutated CEBPA · non-familial acute myeloid leukemia with mutated CEBPA

Disease family

Classification path: human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › hematopoietic and lymphoid system neoplasm › hematopoietic and lymphoid cell neoplasm › leukemia › myeloid leukemia › acute myeloid leukemia › acute myeloid leukemia with CEBPA somatic mutations

Related subtypes (77): childhood acute myeloid leukemia, acute monocytic leukemia, acute myeloid leukemia with t(8;21)(q22;q22) translocation, acute myeloid leukemia by FAB classification, inherited acute myeloid leukemia, acute myeloid leukemia with t(8;16)(p11;p13) translocation, acute myeloid leukemia with t(6;9)(p23;q34), acute myeloid leukemia with t(9;11)(p22;q23), acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2), megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13), acute myeloid leukemia with NPM1 somatic mutations, acute myeloid leukemia with multilineage dysplasia, therapy related acute myeloid leukemia and myelodysplastic syndrome, acute leukemia of ambiguous lineage, acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22), acute myeloid leukemia with 11q23 abnormalities, acute myeloid leukemia with BCR-ABL1, acute myeloid leukemia with mutated NPM1, acute myeloid leukemia, inv(16)(p13.1;q22), acute myeloid leukemia, t(16;16)(p13.1;q22), acute myeloid leukemia, t(15;17)(q24;q21), acute myeloid leukemia, t(9;11)(p21.3;q23.3), acute myeloid leukemia, t(10;11)(p12;q23), acute myeloid leukemia, t(10;11)(p11.2;q23), acute myeloid leukemia, t(1;11)(q21;q23), acute myeloid leukemia, t(4;11)(q21;q23), acute myeloid leukemia, t(6;11)(q27;q23), acute myeloid leukemia, t(6;9)(p23;q34.1), acute myeloid leukemia, t(11;19)(q23;p13), acute myeloid leukemia, t(11;19)(q23;p13.1), acute myeloid leukemia, t(11;19)(q23.3;p13.3), acute myeloid leukemia, t(v;11q23.3), acute myeloid leukemia, Monosomy 7, acute myeloid leukemia, Monosomy 5, acute myeloid leukemia, Trisomy 8, acute myeloid leukemia, der12p, acute myeloid leukemia, t(2;12), acute myeloid leukemia, t(11;17), acute myeloid leukemia, t(8;16), acute myeloid leukemia, t(1;22), acute myeloid leukemia, t(5;11)(q35;p15), acute myeloid leukemia, t(7;12)(q36;p13), acute myeloid leukemia, t(9;22)(q34.1;q11.2), acute myeloid leukemia, inv(3)(q21.3;q26.2), acute myeloid leukemia, t(3;3)(q21.3;q26.2), acute myeloid leukemia, t(3;12)(q23;p12.3), acute myeloid leukemia, del(5q31-q32), acute myeloid leukemia, del(13q14-q21), acute myeloid leukemia, loss of chromosome 17p, acute myeloid leukemia, MLL gene rearrangement, acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive, acute myeloid leukemia, inv(16)(p13.3;q24.3), acute myeloid leukemia, t(11;15)(p15;q35), acute myeloid leukemia, t(16;21)(q24;q22), acute myeloid leukemia, t(3;5)(q25;q34), acute myeloid leukemia, t(16;21)(p11;q22), acute myeloid leukemia, monoallelic CEBPA gene mutation, acute myeloid leukemia, biallelic CEBPA gene mutation, acute myeloid leukemia, CEBPA gene mutation, acute myeloid leukemia, FLT3 internal tandem duplication, acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation, acute myeloid leukemia, WT1 gene mutation, acute myeloid leukemia, KIT exon 17 mutation, acute myeloid leukemia, KIT exon 8 mutation, acute myeloid leukemia, KIT gene mutation, acute myeloid leukemia, GATA1 gene mutation, acute myeloid leukemia, RUNX1 gene mutation, acute myeloid leukemia, PTPN11 gene mutation, acute myeloid leukemia, NRAS gene mutation, acute myeloid leukemia, KRAS gene mutation, core binding factor acute myeloid leukemia, acute myeloid leukemia, t(8;21)(q22; q22.1), acute myeloid leukemia, t(1;22)(p13;q13), acute myeloid leukemia with CBFA2T3-GLIS2 fusion, acute myeloid leukemia with FUS-ERG fusion, acute myeloid leukemia with MNX1-ETV6 fusion, acute myeloid leukemia with NPM1-MLF1 fusion

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 3 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Somatic driver evidence (intOGen + CIViC, cohort fanout)

Gene	intOGen role	Cancer types	CIViC
CEBPA	Act	AML	CIViC #15

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
CEBPA	Orphanet:102724	Acute myeloid leukemia with t(8;21)(q22;q22) translocation
CEBPA	Orphanet:319465	Inherited acute myeloid leukemia
CEBPA	Orphanet:319480	Acute myeloid leukemia with CEBPA somatic mutations

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
civic_only	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
CEBPA	HGNC:1833	ENSG00000245848	P49715	CCAAT/enhancer-binding protein alpha	civic_evidence

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CEBPA	CCAAT/enhancer-binding protein alpha	Transcription factor that coordinates proliferation arrest and the differentiation of myeloid progenitors, adipocytes, hepatocytes, and cells of the lung and the placenta.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
CEBPA	Other/Unknown	no		bZIP, C/EBP_chordates, C/EBP

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
nipple	1
penis	1
upper arm skin	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CEBPA	258	ubiquitous	marker	nipple, upper arm skin, penis

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CEBPA	5,784

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
CEBPA	P49715	2

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 10. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes	1	215.5×	0.013	CEBPA
Epigenetic regulation of gene expression by MLL3 and MLL4 complexes	1	196.9×	0.013	CEBPA
Adipogenesis	1	156.4×	0.013	CEBPA
Epigenetic regulation by WDR5-containing histone modifying complexes	1	154.3×	0.013	CEBPA
Transcriptional regulation of white adipocyte differentiation	1	129.8×	0.013	CEBPA
Transcriptional regulation of granulopoiesis	1	125.5×	0.013	CEBPA
MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis	1	82.8×	0.017	CEBPA
Epigenetic regulation of gene expression	1	71.4×	0.018	CEBPA
Gene expression (Transcription)	1	17.8×	0.062	CEBPA
Developmental Biology	1	14.5×	0.069	CEBPA

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
response to vitamin B2	1	8426.0×	0.003	CEBPA
response to phenylpropanoid	1	8426.0×	0.003	CEBPA
negative regulation of hematopoietic stem cell proliferation	1	5617.3×	0.003	CEBPA
white fat cell proliferation	1	4213.0×	0.003	CEBPA
positive regulation of DNA-templated transcription initiation	1	1872.4×	0.004	CEBPA
epithelial cell maturation	1	1532.0×	0.004	CEBPA
transcription by RNA polymerase I	1	1404.3×	0.004	CEBPA
urea cycle	1	1296.3×	0.004	CEBPA
granulocyte differentiation	1	1203.7×	0.004	CEBPA
response to dexamethasone	1	1203.7×	0.004	CEBPA
interleukin-6-mediated signaling pathway	1	1123.5×	0.004	CEBPA
cellular response to lithium ion	1	1123.5×	0.004	CEBPA
osteoblast development	1	991.3×	0.004	CEBPA
positive regulation of macrophage activation	1	842.6×	0.004	CEBPA
white fat cell differentiation	1	842.6×	0.004	CEBPA
embryonic placenta development	1	766.0×	0.004	CEBPA
integrated stress response signaling	1	702.2×	0.004	CEBPA
myeloid cell differentiation	1	648.1×	0.004	CEBPA
hematopoietic stem cell proliferation	1	648.1×	0.004	CEBPA
animal organ regeneration	1	601.9×	0.004	CEBPA
macrophage differentiation	1	468.1×	0.005	CEBPA
brown fat cell differentiation	1	432.1×	0.005	CEBPA
acute-phase response	1	421.3×	0.005	CEBPA
inner ear development	1	374.5×	0.006	CEBPA
generation of precursor metabolites and energy	1	343.9×	0.006	CEBPA
lipid homeostasis	1	337.0×	0.006	CEBPA
positive regulation of fat cell differentiation	1	300.9×	0.006	CEBPA
negative regulation of cell cycle	1	290.6×	0.006	CEBPA
energy homeostasis	1	271.8×	0.007	CEBPA
cellular response to xenobiotic stimulus	1	240.7×	0.007	CEBPA

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
CEBPA	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Drug repurposing candidates

0 approved/phased drugs hit cohort targets but don’t yet appear in disease-level clinical trials. Target-inhibition rationale is strongest for cancer driver genes; a bioactivity hit is a screening signal, not a treatment claim.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	CEBPA

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
CEBPA	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.