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Acute Myeloid Leukemia with CEBPA Somatic Mutations

1. Disease Information

2026-05-11
Falcon MONDO:0017894 Model: Edison Scientific Literature 59 citations

1. Disease Information

1.1 Concise overview

AML is a clonal hematopoietic malignancy characterized by expansion of immature myeloid blasts in bone marrow and blood, resulting in marrow failure and ineffective hematopoiesis (cytopenias and related complications). (debnath2024prognosisandtreatment pages 1-2)

A clinically important genetically defined subset is AML with somatic mutation(s) in the transcription factor CEBPA (CCAAT/enhancer-binding protein alpha), whose altered function disrupts myeloid differentiation and is associated with characteristic prognostic and classification features, especially when mutations are in-frame insertions/deletions in the basic leucine zipper (bZIP) domain. (sargas2023comparisonofthe pages 1-2, mrozek2023outcomepredictionby pages 1-2)

1.2 Synonyms and alternative names used in recent authoritative sources

Recent classification/guideline literature uses multiple labels for overlapping but non-identical sets of cases: - “AML with CEBPA mutation” (WHO 2022 label in comparative reviews). (park2024whatisnew pages 1-2, park2024whatisnew pages 2-3) - “AML with mutated bZIP CEBPA” (ICC 2022 label). (park2024whatisnew pages 1-2) - biCEBPA (biallelic), smbZIP-CEBPA (single bZIP mutation) in WHO/ICC comparisons. (salman2024comparativeanalysisof pages 2-4, park2024whatisnew pages 1-2) - CEBPAdm (double-mutant/biallelic), CEBPAsm (single-mutant/monoallelic), CEBPAbZIP-inf (bZIP in-frame) in clinical/prognostic studies. (tien2024dysregulatedimmuneand pages 1-2, yuan2023sporadicandfamilial pages 5-6)

1.3 Classification context (WHO 2022 vs ICC 2022 vs ELN 2022)

Visual evidence summarizing WHO vs ICC differences is available in a WHO/ICC comparison figure. (salman2024comparativeanalysisof media e167dd0e)

2. Etiology

2.1 Primary causal factors

2.2 Risk factors

Genetic risk factors (germline predisposition vs somatic)

Environmental/occupational and therapy-related factors for AML broadly

Recent reviews summarize established AML risk contexts: - Ionizing radiation exposure and chemical exposures including benzene and other solvents are explicitly described as AML risk factors, along with tobacco use; therapy-related AML after prior radiation/cytotoxic agents is also described. (marrero2023currentlandscapeof pages 1-2) - A systematic review/meta-analysis notes radiation increases leukemia risk and that aromatic compounds (benzene, toluene, xylene) have a strong association with AML; it also notes significantly elevated risk of therapy-related AML following chemotherapy. (shen2023associationbetweenmetal(loid)s pages 1-2) - A mechanistic review details benzene metabolism (notably via CYP2E1) producing reactive metabolites that contribute to hematopoietic/bone-marrow injury relevant to leukemogenesis. (sandoval2023anupdatedoverview pages 7-9)

2.3 Protective factors

No specific protective genetic variants or modifiable protective exposures were identified in the retrieved full texts for this entity.

2.4 Gene–environment interactions

Evidence in AML broadly (not specific to CEBPA-mutated AML) indicates that polymorphisms in xenobiotic-metabolism genes can modify leukemia/cancer risk; examples reported include CYP2E1, GSTM1, NQO1, NAT2, MDR1 and broader CYP450 SNPs. (sandoval2023anupdatedoverview pages 7-9)

3. Phenotypes

3.1 Core clinical presentation (AML overall)

AML frequently presents with bone marrow failure manifestations and may also show extramedullary involvement. - Cytopenia-related symptoms and complications include anemia, bleeding, and infections. (rivera2023mutationsinthe pages 2-2, leoni2025…genemutationsby pages 11-15) - Organ infiltration can involve spleen, liver, skin, gums, and sometimes CNS. (rivera2023mutationsinthe pages 2-2, leoni2025…genemutationsby pages 11-15)

3.2 CEBPA-mutated AML clinical correlates

3.3 Suggested HPO terms (examples)

(Representative mapping for knowledge-base use; frequency data are limited in retrieved texts.) - Cytopenias / marrow failure: Anemia (HP:0001903), Thrombocytopenia (HP:0001873), Neutropenia (HP:0001875), Pancytopenia (HP:0001876). (leoni2025…genemutationsby pages 11-15, debnath2024prognosisandtreatment pages 1-2) - Bleeding manifestations: Epistaxis (HP:0000421), Purpura (HP:0000979), Gingival bleeding (HP:0000225). (leoni2025…genemutationsby pages 11-15) - Infection susceptibility: Recurrent infections (HP:0002719), Fever (HP:0001945). (leoni2025…genemutationsby pages 11-15) - Extramedullary disease: Hepatomegaly (HP:0002240), Splenomegaly (HP:0001744), Cutaneous infiltration (suggest: Skin infiltration, HP:0001031 as a broad proxy), Central nervous system involvement (HP:0001298 for encephalopathy as proxy; CNS leukemia lacks a perfect single HPO term in this corpus). (rivera2023mutationsinthe pages 2-2, leoni2025…genemutationsby pages 11-15)

4. Genetic / Molecular Information

4.1 Causal gene

4.2 Pathogenic somatic variant classes (current understanding)

Authoritative 2023–2024 sources emphasize that where and what type of CEBPA mutation occurs matters for classification and prognosis: - bZIP in-frame insertions/deletions (bZIPInDel / CEBPAbZIP-inf): central favorable-risk driver class in ELN 2022. (sargas2023comparisonofthe pages 1-2, mrozek2023outcomepredictionby pages 1-2) - Other bZIP lesions: missense substitutions (bZIPms) and truncating/stop-inducing lesions (bZIPSTOP) are less favorable as a group than bZIPInDel in pooled analyses. (georgi2024prognosticimpactof pages 1-2, georgi2024prognosticimpactof pages 2-3) - N-terminal TAD mutations and combinations with bZIP changes define classic “double-mutant” patterns; prognostic implications are heterogeneous and refined by domain/type. (georgi2024prognosticimpactof pages 1-2, rivera2023mutationsinthe pages 3-4)

4.3 Allelic state (monoallelic vs biallelic)

CEBPAdm (double-mutant/biallelic) and CEBPAsm (single-mutant) are widely used categories, but recent analyses suggest that bZIP in-frame genotype is more prognostically determinant than “biallelic” status alone. (georgi2024prognosticimpactof pages 1-2, sargas2023comparisonofthe pages 1-2)

4.4 Co-mutation patterns

4.5 Molecular profiling signals (recent 2024 work)

A 2024 transcriptomic study of CEBPAbZIP-inf AML linked poor outcomes to: - Enrichment of interferon (IFN) signaling and metabolic/mitochondrial pathways (e.g., mitochondrial complex genes) in patients with shorter event-free survival. (tien2024dysregulatedimmuneand pages 1-2)

5. Mechanism / Pathophysiology

5.1 Causal chain (from mutation to phenotype)

A convergent mechanistic model supported by human and model-organism data: 1. CEBPA alteration (domain-specific mutation or isoform imbalance) perturbs transcriptional programs essential for granulocytic differentiation and normal myeloid maturation. (tawana2017familialcebpamutatedacute pages 1-4, brown2020secondaryleukemiain pages 10-11) 2. Disruption impairs the transition from common myeloid progenitor (CMP) to granulocyte–macrophage progenitor (GMP), contributing to differentiation block and accumulation of blasts. (tawana2017familialcebpamutatedacute pages 1-4) 3. In some experimental settings, CEBPA alterations promote HSPC expansion/self-renewal, creating a substrate for leukemogenesis and clinical AML. (chen2024cebpaisrequired pages 1-2, chen2024cebpaisrequired pages 11-11)

5.2 Downstream targets and pathways

5.3 Suggested ontology terms

6. Anatomical Structures Affected

Suggested anatomy terms: - UBERON: bone marrow; peripheral blood; spleen; liver; skin; central nervous system. (rivera2023mutationsinthe pages 2-2, leoni2025…genemutationsby pages 11-15, debnath2024prognosisandtreatment pages 1-2)

7. Temporal Development

  • AML is generally acute/subacute in presentation, often with symptoms over weeks to months and complications of marrow failure. (leoni2025…genemutationsby pages 11-15)
  • For familial/germline CEBPA predisposition (important differential when “somatic CEBPA AML” is suspected), N-terminal germline variants were reported with high penetrance and median onset ~25 years (range ~1.75–46), with most frequent presentation ages 21–30. (yuan2023sporadicandfamilial pages 4-5)

8. Inheritance and Population

8.1 Epidemiology

8.2 Germline predisposition (distinct but clinically relevant)

9. Diagnostics

9.1 Recommended molecular testing strategy for CEBPA

  • Full-length sequencing of CEBPA (single exon) is recommended as the most comprehensive approach; targeted NGS panels are favored over Sanger due to higher sensitivity (~5% vs ~15–20%). (yuan2023sporadicandfamilial pages 4-5)
  • Capture-based NGS is preferred over amplicon-based approaches for CEBPA because indels are common and the locus is GC-rich; fragment analysis can screen indels (analytic sensitivity ~5%) but cannot detect point mutations or precisely define indels. (yuan2023sporadicandfamilial pages 5-6)

9.2 Determining allelic state and excluding germline

9.3 MRD assessment

  • Multiparameter flow cytometry (MFC) MRD is in clinical use; MRD positivity during consolidation predicted higher relapse and worse relapse-free survival in CEBPA-mutated AML in a review synthesis. (yuan2023sporadicandfamilial pages 5-6)

10. Outcome / Prognosis

10.1 Key prognostic concept (2023–2024 update)

A major 2022–2024 refinement is that favorable outcomes are best associated with in-frame bZIP mutations rather than “biallelic CEBPA” broadly. (sargas2023comparisonofthe pages 1-2, mrozek2023outcomepredictionby pages 1-2)

10.2 Recent statistics (prioritizing 2023–2024)

10.3 Abstract-supported statements (direct quotes)

  • ELN 2022 favorable-risk framing: “Acute myeloid leukemia (AML) with CEBPA bZIP in-frame mutations (CEBPAbZIP-inf) is classified within the favorable-risk group by the 2022 European LeukemiaNet (ELN-2022). However, heterogeneous clinical outcomes are still observed in these patients.” (tien2024dysregulatedimmuneand pages 1-2)
  • Molecular findings linked to poor outcome: “Concurrent WT1 or DNMT3A mutations significantly predicted worse survival…” (tien2024dysregulatedimmuneand pages 1-2)

11. Treatment

11.1 Standard of care (real-world implementation)

11.2 Allogeneic HSCT considerations

  • For germline/familial CEBPA AML, relapse can be frequent and may represent independent episodes; allogeneic HSCT is considered in recurrent/high-risk settings (also to avoid transplanting from a related donor who may carry the germline variant). (tawana2017familialcebpamutatedacute pages 1-4)
  • In bZIP-inframe AML with poor-outcome biology (e.g., adverse co-mutations or transcriptomic risk states), authors have suggested that upfront allo-transplant may improve long-term control. (tien2024dysregulatedimmuneand pages 1-2)

11.3 Clinical trials (examples from ClinicalTrials.gov)

11.4 Suggested MAXO terms (examples)

12. Prevention

  • Primary prevention (AML overall): reduction of exposure to established leukemogens (e.g., benzene) and avoiding unnecessary ionizing radiation where feasible; these are supported as risk factors in AML review literature, but specific prevention trials for this entity were not found in the retrieved corpus. (shen2023associationbetweenmetal(loid)s pages 1-2, marrero2023currentlandscapeof pages 1-2)
  • Secondary prevention: no population screening specific to CEBPA somatic AML; however, in suspected hereditary contexts (familial AML), genetic counseling and constitutional testing can guide surveillance and donor selection. (yuan2023sporadicandfamilial pages 5-6, tawana2017familialcebpamutatedacute pages 1-4)

13. Other Species / Natural Disease

No naturally occurring non-human “CEBPA-mutated AML” entity was identified in the retrieved texts; mechanistic insights rely primarily on engineered or experimentally induced models (see Model Organisms).

14. Model Organisms

14.1 Zebrafish

14.2 Mouse

  • CEBPA knockout mice demonstrate granulopoiesis defects (“lack mature granulocytes”), supporting CEBPA’s essential role in granulocyte development. (faisal2023locationlocationlocation pages 1-3)
  • A knock-in model with C-terminal/bZIP in-frame mutation (CEBPAK313KK) has been described as promoting intrinsic HSPC expansion and accelerating AML progression in a mutant background. (chen2024cebpaisrequired pages 11-11)

Evidence Map (2022–2024 classification/prognosis/diagnostics)

The following table consolidates high-yield evidence items (classification criteria, prognosis statistics, diagnostics/MRD notes, and example clinical trials) for rapid knowledge-base extraction.

Table (click to expand)
Topic Key points Study/source (author year journal) PMID URL Evidence context ID(s)
WHO 2022 classification WHO 2022 entity is “AML with CEBPA mutation”; includes both biallelic CEBPA and single mutations in the basic leucine zipper (bZIP) region; blast threshold described as ≥20% for this context in comparative reviews. Park 2024 Blood Research https://doi.org/10.1007/s44313-024-00016-8 (park2024whatisnew pages 1-2, park2024whatisnew pages 2-3)
ICC 2022 classification ICC 2022 entity is “AML with mutated bZIP CEBPA”; focuses on in-frame bZIP CEBPA mutations and uses a ≥10% blast threshold for recurrent genetic abnormality-defined AML. Salman 2024 Cancers; Park 2024 Blood Research https://doi.org/10.3390/cancers16162915 ; https://doi.org/10.1007/s44313-024-00016-8 (salman2024comparativeanalysisof pages 2-4, park2024whatisnew pages 1-2, salman2024comparativeanalysisof pages 4-6)
ELN 2022 risk definition ELN 2022 favorable-risk category replaced “biallelic CEBPA” with in-frame bZIP CEBPA mutations, irrespective of monoallelic vs biallelic status. Sargas 2023 Blood Cancer Journal; Huber 2023 Leukemia; Mrózek 2023 Leukemia https://doi.org/10.1038/s41408-023-00835-5 ; https://doi.org/10.1038/s41375-023-01909-w ; https://doi.org/10.1038/s41375-023-01846-8 (sargas2023comparisonofthe pages 1-2, huber2023amlclassificationin pages 1-2, mrozek2023outcomepredictionby pages 1-2)
Prognostic subgroup refinement In pooled analysis of 1,010 adult CEBPA-mutant AML cases, only bZIP in-frame insertion/deletion (bZIPInDel) cases had significantly higher CR rates and longer relapse-free and overall survival than other CEBPA-mutant subgroups; bZIPSTOP, bZIP missense, and TAD-mutant groups were less favorable. Georgi 2024 Leukemia https://doi.org/10.1038/s41375-024-02140-x (georgi2024prognosticimpactof pages 1-2, georgi2024prognosticimpactof pages 2-3)
Prognosis in CEBPAbZIP-inf with co-mutations In 887 non-M3 AML patients, 142/887 (16%) had CEBPA mutations and 113/887 (12.7%) had CEBPAbZIP-inf; 96/113 (85.0%) biallelic. Despite favorable ELN assignment, 5-year EFS was reported as <50% and cumulative relapse near 40%; concurrent WT1 or DNMT3A predicted worse survival. Tien 2024 Blood Cancer Journal https://doi.org/10.1038/s41408-023-00975-8 (tien2024dysregulatedimmuneand pages 1-2)
PETHEMA registry outcomes In 696 intensively treated AML patients, 82 (11.8%) had CEBPA mutations; 45 had bZIP mutations and 40 had CEBPA-bZIP-inf (5.7%). Estimated 3-year OS was 83.3% (95% CI 58.3–100) for CEBPA-bZIP-inf vs 54.3% for other CEBPA mutations and 47.2% for CEBPA wild type; historical relapse risk cited ~40% for CEBPAdm vs ~60% for CEBPAsm. De la Torre 2024 Haematologica https://doi.org/10.3324/haematol.2023.284601 (torre2024validationofmutated pages 1-2)
Normal-karyotype AML multivariable outcomes In normal-karyotype AML, bZIP in-frame CEBPA mutation was an independent favorable factor: CR OR 3.97 (95% CI 1.16–13.50, p=0.028), OS HR 0.49 (0.30–0.81, p=0.006), RFS HR 0.56 (0.35–0.91, p=0.019), CIR HR 0.49 (0.25–0.96, p=0.036). FLT3-ITD remained adverse. Ahn 2023 Cancer Research and Treatment https://doi.org/10.4143/crt.2022.1407 (ahn2023clinicalsignificanceof pages 4-5)
Mini-review summary of older cohorts Review summarized favorable outcomes for biallelic and monoallelic in-frame bZIP groups: median OS 103.2 months for CEBPAbi vs 21.9 months for CEBPAmono vs 19.3 months for CEBPAwt; pediatric series showed CR 87.7% vs 76.9% and MRD-negative CR 83.4% vs 70.5% for CEBPAm vs CEBPAwt; 5-year EFS/OS around 64%/81–89% for CEBPAbi and CEBPAsmbZIP in cited cohorts. Faisal 2023 Leukemia Research Reports https://doi.org/10.1016/j.lrr.2023.100386 (faisal2023locationlocationlocation pages 1-3)
Diagnostic testing: sequencing strategy Full-length sequencing of the single-exon CEBPA gene is recommended; routine NGS panels are favored over Sanger because of higher sensitivity (~5% for NGS vs ~15–20% for Sanger). Capture-based NGS is preferred over amplicon-based approaches for CEBPA because indels are common and GC-rich sequence complicates testing. Yuan 2023 Current Hematologic Malignancy Reports https://doi.org/10.1007/s11899-023-00699-3 (yuan2023sporadicandfamilial pages 5-6, yuan2023sporadicandfamilial pages 4-5)
Diagnostic testing: fragment analysis Fragment analysis can be used pragmatically to screen for indels in resource-limited settings with analytic sensitivity around 5%, but it cannot detect point mutations or precisely define indel sequence/size. Yuan 2023 Current Hematologic Malignancy Reports https://doi.org/10.1007/s11899-023-00699-3 (yuan2023sporadicandfamilial pages 5-6)
Diagnostic testing: allelic status/germline caveat Standard Sanger or short-read routine NGS cannot reliably establish cis/trans configuration for distant N- and C-terminal mutations; constitutional non-hematopoietic tissue (cultured skin fibroblasts preferred) is required to confirm germline status. Persistence of CEBPA mutation in remission should prompt germline evaluation. Yuan 2023 Current Hematologic Malignancy Reports https://doi.org/10.1007/s11899-023-00699-3 (yuan2023sporadicandfamilial pages 5-6, yuan2023sporadicandfamilial pages 4-5)
MRD notes Multiparametric flow cytometry (MFC) MRD is in clinical use; MRD positivity during consolidation (rather than necessarily after induction) predicts higher relapse and worse RFS. “Low-risk MRD” was defined as negative MRD after at least two consolidation cycles and associated with better RFS/OS. Yuan 2023 Current Hematologic Malignancy Reports https://doi.org/10.1007/s11899-023-00699-3 (yuan2023sporadicandfamilial pages 5-6)
Clinical trial example NCT06458257: “The Efficacy of Allogeneic Hematopoietic Stem Cell Transplantation in Newly Diagnosed High-relapse-risk CEBPA Mutant Acute Myeloid Leukemia”; recruiting observational study; target enrollment 50. ClinicalTrials.gov record https://clinicaltrials.gov/study/NCT06458257 (rivera2023mutationsinthe pages 3-4)
Clinical trial example NCT06529250: “Intermediate-dose HAD Regimen for CEBPA Double-mutated AML”; recruiting interventional study; phase NA; enrollment 148. ClinicalTrials.gov record https://clinicaltrials.gov/study/NCT06529250 (rivera2023mutationsinthe pages 3-4)
Clinical trial example NCT04415008: “Efficacy of HAD Induction With Intensified Cytarabine in Newly-diagnosed CEBPA Double Mutated Acute Myeloid Leukemia”; active, not recruiting; phase 2; enrollment 61. ClinicalTrials.gov record https://clinicaltrials.gov/study/NCT04415008 (rivera2023mutationsinthe pages 3-4)
Clinical trial example NCT07451912: “Venetoclax Plus Hypomethylating Agents and Subcutaneous Cytarabine for CEBPA-Mutated AML”; recruiting interventional study; phase 1/2; enrollment 29. ClinicalTrials.gov record https://clinicaltrials.gov/study/NCT07451912 (rivera2023mutationsinthe pages 3-4)

Table: This table consolidates classification criteria, prognosis, diagnostics/MRD, and example clinical trials for AML with CEBPA mutations. It is useful as a compact evidence map for populating a disease knowledge base entry with recent, citable findings.

Key limitations of this evidence snapshot

  1. Ontology identifiers (MONDO/MeSH/ICD/Orphanet/OMIM) for the specific “AML with CEBPA somatic mutations” entity were not present in the retrieved full texts and therefore could not be cited here.
  2. Many phenotype frequencies for the somatic (non-familial) CEBPA-mutated AML subgroup are not consistently reported in the retrieved 2023–2024 sources; most symptom frequencies derive from AML-wide literature.
  3. Variant-level population allele frequencies (gnomAD) and clinical variant assertions (ClinVar/COSMIC IDs) were not retrieved in this run.

References

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