Core binding factor (CBF) acute myeloid leukemia encompasses two favorable-risk AML subtypes defined by chromosomal abnormalities affecting the CBF transcription factor complex: t(8;21)(q22;q22) creating RUNX1-RUNX1T1 fusion, and inv(16)(p13.1q22) or t(16;16)(p13.1;q22) creating CBFB-MYH11 fusion. CBF is essential for definitive hematopoiesis, and these fusion proteins act as dominant-negative inhibitors of normal CBF function, blocking myeloid differentiation. CBF-AML represents 15-20% of adult AML and has favorable prognosis with intensive chemotherapy, particularly with high-dose cytarabine consolidation.
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name: Acute Myeloid Leukemia, Core Binding Factor
creation_date: '2026-01-26T02:55:13Z'
updated_date: '2026-04-11T21:17:25Z'
description: >-
Core binding factor (CBF) acute myeloid leukemia encompasses two favorable-risk
AML subtypes defined by chromosomal abnormalities affecting the CBF transcription
factor complex: t(8;21)(q22;q22) creating RUNX1-RUNX1T1 fusion, and inv(16)(p13.1q22)
or t(16;16)(p13.1;q22) creating CBFB-MYH11 fusion. CBF is essential for definitive
hematopoiesis, and these fusion proteins act as dominant-negative inhibitors of
normal CBF function, blocking myeloid differentiation. CBF-AML represents 15-20%
of adult AML and has favorable prognosis with intensive chemotherapy, particularly
with high-dose cytarabine consolidation.
categories:
- Hematologic Malignancy
- Acute Leukemia
- Molecularly Defined Cancer
- Favorable Risk AML
parents:
- acute myeloid leukemia
has_subtypes:
- name: AML with t(8;21)(q22;q22) RUNX1-RUNX1T1
description: >-
AML characterized by the t(8;21) translocation fusing RUNX1 (formerly AML1)
on chromosome 21 with RUNX1T1 (formerly ETO) on chromosome 8. Typically shows
maturation to promyelocyte/myelocyte stage. Associated with Auer rods, CD19
expression, and loss of chromosome Y or del(9q). Favorable prognosis with
intensive chemotherapy.
- name: AML with inv(16)(p13.1q22) or t(16;16) CBFB-MYH11
description: >-
AML characterized by inv(16) or t(16;16) fusing CBFB (core binding factor beta)
with MYH11 (smooth muscle myosin heavy chain). Associated with abnormal bone
marrow eosinophils containing abnormal granules. Typically presents with younger
age and may have extramedullary disease. Favorable prognosis.
pathophysiology:
- name: CBF Transcription Factor Complex Disruption
description: >-
The core binding factor complex consists of RUNX1 (alpha subunit) and CBFB
(beta subunit). RUNX1 binds DNA while CBFB stabilizes this binding. Both
t(8;21) and inv(16) produce fusion proteins that dominantly inhibit normal
CBF function, disrupting transcription of genes essential for myeloid
differentiation.
evidence:
- reference: PMID:41152985
reference_title: "Resolving intra-tumor heterogeneity and clonal evolution of core-binding factor acute myeloid leukemia patients with single-cell resolution."
supports: PARTIAL
snippet: "core-binding factor acute myeloid leukemia patients, defined by the presence of a RUNX1::RUNX1T1 or CBFB::MYH11 fusion gene."
explanation: This abstract defines CBF-AML by RUNX1::RUNX1T1 or CBFB::MYH11 fusions, supporting the core-binding factor disruption described.
cell_types:
- preferred_term: myeloid progenitor cell
term:
id: CL:0000049
label: common myeloid progenitor
biological_processes:
- preferred_term: myeloid cell differentiation
modifier: DECREASED
term:
id: GO:0030099
label: myeloid cell differentiation
downstream:
- target: Differentiation Block at Myeloid Stage
description: Dominant-negative CBF inhibition arrests maturation
- target: Self-Renewal Maintenance
description: Loss of CBF target gene expression promotes progenitor expansion
- name: Differentiation Block at Myeloid Stage
description: >-
CBF fusion proteins recruit corepressor complexes including HDACs and NCoR,
converting CBF from a transcriptional activator to a repressor. This silences
differentiation genes while partially preserving some myeloid identity,
resulting in blasts with partial maturation features.
cell_types:
- preferred_term: myeloblast
term:
id: CL:0000835
label: myeloblast
biological_processes:
- preferred_term: granulocyte differentiation
modifier: DECREASED
term:
id: GO:0030851
label: granulocyte differentiation
downstream:
- target: Leukemic Blast Accumulation
description: Arrested cells accumulate in bone marrow and blood
- name: Self-Renewal Maintenance
description: >-
CBF fusion proteins maintain expression of self-renewal genes while blocking
differentiation. Additional mutations, particularly in receptor tyrosine
kinases (KIT, FLT3), provide proliferative signals that cooperate with
CBF fusions to cause overt leukemia.
biological_processes:
- preferred_term: cell population proliferation
modifier: INCREASED
term:
id: GO:0008283
label: cell population proliferation
downstream:
- target: Leukemic Blast Accumulation
description: Enhanced self-renewal with blocked differentiation drives disease
- name: Leukemic Blast Accumulation
description: >-
The combination of differentiation block, maintained self-renewal, and
cooperating mutations leads to accumulation of immature myeloid blasts
in the bone marrow, causing bone marrow failure and circulating leukemia.
locations:
- preferred_term: bone marrow
term:
id: UBERON:0002371
label: bone marrow
cell_types:
- preferred_term: myeloblast
term:
id: CL:0000835
label: myeloblast
histopathology:
- name: Myeloblast Predominance
finding_term:
preferred_term: Myeloblasts Present
term:
id: NCIT:C155995
label: Myeloblasts Present
frequency: VERY_FREQUENT
description: Acute myeloid leukemia features increased myeloblasts in blood or marrow.
evidence:
- reference: PMID:23590662
reference_title: "Acute myeloid leukemia: advances in diagnosis and classification."
supports: SUPPORT
snippet: "myeloblasts in the blood or bone marrow."
explanation: Abstract notes myeloblasts in the blood or bone marrow in AML.
phenotypes:
- category: Hematologic
name: Anemia
frequency: VERY_FREQUENT
description: >-
Normocytic anemia from bone marrow replacement and ineffective erythropoiesis.
phenotype_term:
preferred_term: Anemia
term:
id: HP:0001903
label: Anemia
- category: Hematologic
name: Thrombocytopenia
frequency: VERY_FREQUENT
description: >-
Low platelet count due to marrow failure, causing bleeding risk.
phenotype_term:
preferred_term: Thrombocytopenia
term:
id: HP:0001873
label: Thrombocytopenia
- category: Hematologic
name: Leukocytosis
frequency: FREQUENT
description: >-
Elevated white blood cell count with circulating blasts. Some patients
may present with normal or low counts.
phenotype_term:
preferred_term: Leukocytosis
term:
id: HP:0001974
label: Increased total leukocyte count
- category: Constitutional
name: Fatigue
frequency: VERY_FREQUENT
description: >-
Fatigue related to anemia and systemic effects of leukemia.
phenotype_term:
preferred_term: Fatigue
term:
id: HP:0012378
label: Fatigue
- category: Infectious
name: Recurrent Infections
frequency: FREQUENT
description: >-
Increased susceptibility to infections due to neutropenia and
dysfunctional granulocytes.
phenotype_term:
preferred_term: Recurrent infections
term:
id: HP:0002719
label: Recurrent infections
- category: Abdominal
name: Hepatomegaly
frequency: OCCASIONAL
description: >-
Liver enlargement from leukemic infiltration, more common in
inv(16) subtype.
phenotype_term:
preferred_term: Hepatomegaly
term:
id: HP:0002240
label: Hepatomegaly
biochemical:
- name: Cytogenetic Analysis
notes: >-
Karyotyping detects t(8;21)(q22;q22) or inv(16)(p13.1q22)/t(16;16)(p13.1;q22).
FISH may be needed for cryptic rearrangements. These findings define the
diagnosis regardless of blast percentage.
- name: Molecular Fusion Detection
notes: >-
RT-PCR detects RUNX1-RUNX1T1 or CBFB-MYH11 fusion transcripts, useful for
diagnosis and minimal residual disease monitoring. MRD assessment guides
post-remission therapy decisions.
genetic:
- name: RUNX1-RUNX1T1 Fusion
association: Somatic Oncogenic Fusion
notes: >-
The t(8;21)(q22;q22) translocation creates a fusion between RUNX1 (AML1)
on chromosome 21 and RUNX1T1 (ETO) on chromosome 8. The fusion protein
recruits corepressors, converting CBF to a transcriptional repressor.
Defines favorable-risk AML.
evidence:
- reference: PMID:22032582
reference_title: "Core-binding factor acute myeloid leukemia."
supports: SUPPORT
snippet: "The rearrangements t(8;21) and inv(16) involve the RUNX1/RUNX1T1 ( AML1-ETO ) and CBFB/MYH11 genes, respectively."
explanation: "Abstract states RUNX1/RUNX1T1 is involved in the t(8;21) rearrangement defining CBF-AML."
- name: CBFB-MYH11 Fusion
association: Somatic Oncogenic Fusion
notes: >-
inv(16)(p13.1q22) or t(16;16)(p13.1;q22) fuses CBFB with MYH11. The fusion
protein sequesters RUNX1 in the cytoplasm and disrupts normal CBF function.
Associated with abnormal eosinophils. Defines favorable-risk AML.
evidence:
- reference: PMID:22032582
reference_title: "Core-binding factor acute myeloid leukemia."
supports: SUPPORT
snippet: "The rearrangements t(8;21) and inv(16) involve the RUNX1/RUNX1T1 ( AML1-ETO ) and CBFB/MYH11 genes, respectively."
explanation: "Abstract states CBFB/MYH11 is involved in the inv(16) rearrangement defining CBF-AML."
- name: KIT
association: Cooperating Mutation
notes: >-
KIT mutations occur in 20-30% of CBF-AML cases, particularly in exon 17.
May confer adverse prognosis within CBF-AML and represents a potential
therapeutic target.
treatments:
- name: Intensive Chemotherapy (7+3) with High-Dose Cytarabine Consolidation
description: >-
Standard induction with 7 days cytarabine and 3 days anthracycline followed
by multiple cycles of high-dose cytarabine (HiDAC) consolidation. HiDAC is
particularly effective for CBF-AML and is the standard of care for fit
patients, achieving 60-70% cure rates without transplant.
treatment_term:
preferred_term: chemotherapy
term:
id: MAXO:0000647
label: chemotherapy
- name: Gemtuzumab Ozogamicin
description: >-
CD33-directed antibody-drug conjugate added to chemotherapy improves outcomes
in favorable-risk AML including CBF-AML. Particularly beneficial when given
in fractionated dosing during induction and consolidation.
treatment_term:
preferred_term: pharmacotherapy
term:
id: MAXO:0000058
label: pharmacotherapy
therapeutic_agent:
- preferred_term: gemtuzumab ozogamicin
term:
id: NCIT:C1806
label: Gemtuzumab Ozogamicin
- name: MRD-Guided Therapy
description: >-
Monitoring RUNX1-RUNX1T1 or CBFB-MYH11 fusion transcript levels by RT-PCR
after consolidation guides decisions about additional therapy. Rising MRD
may prompt transplant consideration before overt relapse.
treatment_term:
preferred_term: genetic testing
term:
id: MAXO:0000127
label: genetic testing
- name: Allogeneic Stem Cell Transplantation
description: >-
Generally reserved for relapsed CBF-AML or patients with persistent MRD
after consolidation. Not routinely recommended in first remission given
excellent outcomes with chemotherapy alone.
treatment_term:
preferred_term: hematopoietic stem cell transplantation
term:
id: MAXO:0000747
label: hematopoietic stem cell transplantation
disease_term:
preferred_term: core binding factor acute myeloid leukemia
term:
id: MONDO:0015166
label: acute myeloid leukemia with t(8;21)(q22;q22) translocation
classifications:
icdo_morphology:
classification_value: Leukemia
harrisons_chapter:
- classification_value: cancer
- classification_value: hematologic malignancy
references:
- reference: DOI:10.1038/s41408-023-00928-1
title: Efficacy of venetoclax combined with hypomethylating agents in young, and unfit patients with newly diagnosed core binding factor acute myeloid leukemia
found_in:
- Core_Binding_Factor_AML-deep-research-falcon.md
findings:
- statement: Efficacy of venetoclax combined with hypomethylating agents in young, and unfit patients with newly diagnosed core binding factor acute myeloid leukemia
supporting_text: Efficacy of venetoclax combined with hypomethylating agents in young, and unfit patients with newly diagnosed core binding factor acute myeloid leukemia
- reference: DOI:10.1172/jci176311
title: Proteogenomic analysis reveals cytoplasmic sequestration of RUNX1 by the acute myeloid leukemia–initiating CBFB::MYH11 oncofusion protein
found_in:
- Core_Binding_Factor_AML-deep-research-falcon.md
findings:
- statement: Proteogenomic analysis reveals cytoplasmic sequestration of RUNX1 by the acute myeloid leukemia–initiating CBFB::MYH11 oncofusion protein
supporting_text: Proteogenomic analysis reveals cytoplasmic sequestration of RUNX1 by the acute myeloid leukemia–initiating CBFB::MYH11 oncofusion protein
- reference: DOI:10.1172/jci179105
title: Cytoplasmic transcription factor sequestration drives the pathogenesis of a rearranged leukemia
found_in:
- Core_Binding_Factor_AML-deep-research-falcon.md
findings:
- statement: Cytoplasmic transcription factor sequestration drives the pathogenesis of a rearranged leukemia
supporting_text: Cytoplasmic transcription factor sequestration drives the pathogenesis of a rearranged leukemia
- reference: DOI:10.21203/rs.3.rs-5301043/v1
title: 'Efficacy of venetoclax and azacitidine based therapy in favorable-risk unfit acute myeloid leukemia: a real-world study'
found_in:
- Core_Binding_Factor_AML-deep-research-falcon.md
findings:
- statement: Venetoclax combined with azacitidine (VA) is a new standard of care for newly diagnosed patients with acute myeloid leukemia (AML) who are unfit for intensive chemotherapy.
supporting_text: Venetoclax combined with azacitidine (VA) is a new standard of care for newly diagnosed patients with acute myeloid leukemia (AML) who are unfit for intensive chemotherapy.
evidence:
- reference: DOI:10.21203/rs.3.rs-5301043/v1
reference_title: 'Efficacy of venetoclax and azacitidine based therapy in favorable-risk unfit acute myeloid leukemia: a real-world study'
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: Venetoclax combined with azacitidine (VA) is a new standard of care for newly diagnosed patients with acute myeloid leukemia (AML) who are unfit for intensive chemotherapy.
explanation: Deep research cited this publication as relevant literature for Core Binding Factor AML.
- reference: DOI:10.2217/ijh-2022-0004
title: Therapy-Related Core Binding Factor Acute Myeloid Leukemia
found_in:
- Core_Binding_Factor_AML-deep-research-falcon.md
findings:
- statement: Therapy-Related Core Binding Factor Acute Myeloid Leukemia
supporting_text: Therapy-Related Core Binding Factor Acute Myeloid Leukemia
- reference: DOI:10.3390/cancers15061795
title: Deregulated Gene Expression Profiles and Regulatory Networks in Adult and Pediatric RUNX1/RUNX1T1-Positive AML Patients
found_in:
- Core_Binding_Factor_AML-deep-research-falcon.md
findings:
- statement: Acute myeloid leukemia (AML) is a heterogeneous and complex disease concerning molecular aberrations and prognosis.
supporting_text: Acute myeloid leukemia (AML) is a heterogeneous and complex disease concerning molecular aberrations and prognosis.
evidence:
- reference: DOI:10.3390/cancers15061795
reference_title: Deregulated Gene Expression Profiles and Regulatory Networks in Adult and Pediatric RUNX1/RUNX1T1-Positive AML Patients
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: Acute myeloid leukemia (AML) is a heterogeneous and complex disease concerning molecular aberrations and prognosis.
explanation: Deep research cited this publication as relevant literature for Core Binding Factor AML.
- reference: DOI:10.3390/cancers15133512
title: 'Modern Risk Stratification of Acute Myeloid Leukemia in 2023: Integrating Established and Emerging Prognostic Factors'
found_in:
- Core_Binding_Factor_AML-deep-research-falcon.md
findings:
- statement: An accurate estimation of AML prognosis is complex since it depends on patient-related factors, AML manifestations at diagnosis, and disease genetics.
supporting_text: An accurate estimation of AML prognosis is complex since it depends on patient-related factors, AML manifestations at diagnosis, and disease genetics.
evidence:
- reference: DOI:10.3390/cancers15133512
reference_title: 'Modern Risk Stratification of Acute Myeloid Leukemia in 2023: Integrating Established and Emerging Prognostic Factors'
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: An accurate estimation of AML prognosis is complex since it depends on patient-related factors, AML manifestations at diagnosis, and disease genetics.
explanation: Deep research cited this publication as relevant literature for Core Binding Factor AML.
- reference: DOI:10.3390/cells13010078
title: Deciphering Acute Myeloid Leukemia Associated Transcription Factors in Human Primary CD34+ Hematopoietic Stem/Progenitor Cells
found_in:
- Core_Binding_Factor_AML-deep-research-falcon.md
findings:
- statement: Hemato-oncological diseases account for nearly 10% of all malignancies and can be classified into leukemia, lymphoma, myeloproliferative diseases, and myelodysplastic syndromes.
supporting_text: Hemato-oncological diseases account for nearly 10% of all malignancies and can be classified into leukemia, lymphoma, myeloproliferative diseases, and myelodysplastic syndromes.
evidence:
- reference: DOI:10.3390/cells13010078
reference_title: Deciphering Acute Myeloid Leukemia Associated Transcription Factors in Human Primary CD34+ Hematopoietic Stem/Progenitor Cells
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: Hemato-oncological diseases account for nearly 10% of all malignancies and can be classified into leukemia, lymphoma, myeloproliferative diseases, and myelodysplastic syndromes.
explanation: Deep research cited this publication as relevant literature for Core Binding Factor AML.
- reference: DOI:10.4274/tjh.galenos.2022.2021.0641
title: Comprehensive mutation profile in acute myeloid leukemia patients with RUNX1- RUNX1T1 or CBFB-MYH11 fusions
found_in:
- Core_Binding_Factor_AML-deep-research-falcon.md
findings:
- statement: Comprehensive mutation profile in acute myeloid leukemia patients with RUNX1- RUNX1T1 or CBFB-MYH11 fusions
supporting_text: Comprehensive mutation profile in acute myeloid leukemia patients with RUNX1- RUNX1T1 or CBFB-MYH11 fusions
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Core-binding factor AML is a molecularly and cytogenetically defined subset of AML characterized by the recurrent rearrangements t(8;21) producing the RUNX1::RUNX1T1 fusion and inv(16)/t(16;16) producing the CBFB::MYH11 fusion; these are commonly grouped because both disrupt the core-binding factor (CBF) transcriptional complex and are generally considered favorable-risk with high complete remission (CR) rates after intensive therapy. (boscaro2023modernriskstratification pages 4-5, george2023therapyrelatedcorebinding pages 1-2)
Within this tool session, only general AML MONDO/EFO identifiers were returned by OpenTargets, not a distinct MONDO entry for CBF-AML; hence ontology identifiers below are provided as suggestions where not directly evidenced. (boscaro2023modernriskstratification pages 4-5)
This report integrates: - Aggregated disease-level resources: narrative reviews and guideline-oriented risk stratification reviews (george2023therapyrelatedcorebinding pages 4-5, boscaro2023modernriskstratification pages 4-5) - Human clinical cohorts/real-world studies: venetoclax/HMA cohorts (zhang2023efficacyofvenetoclax pages 1-2, chen2024efficacyofvenetoclax pages 8-11) - Mechanistic/model systems: primary murine HSPC proteogenomics with validation in primary human AML cells (day2024proteogenomicanalysisreveals pages 1-2, day2024proteogenomicanalysisreveals media 35681b36)
CBF-AML is primarily driven by acquired (somatic) chromosomal rearrangements that generate CBF fusion oncogenes, which impair differentiation and require cooperating lesions for overt leukemia. (george2023therapyrelatedcorebinding pages 1-2)
CBF-AML can arise as a therapy-related AML following cytotoxic chemotherapy and/or radiation. Therapy-related CBF-AML is estimated to represent ~5–15% of CBF-AML cases. (george2023therapyrelatedcorebinding pages 1-2)
Latency: exposure class is associated with latency differences: alkylating agents/radiotherapy are associated with t-AML after ~5–10 years, whereas topoisomerase II inhibitors can be followed by t-AML within ~1–3 years. (george2023therapyrelatedcorebinding pages 1-2)
A “two-hit” framework is described in which class II events (CBF fusions: RUNX1::RUNX1T1 or CBFB::MYH11) drive differentiation arrest, while cooperating class I signaling mutations (e.g., KIT, FLT3, RAS) provide proliferative/survival signaling. (george2023therapyrelatedcorebinding pages 1-2)
No protective genetic or environmental factors specific to CBF-AML were identified in the retrieved evidence.
The retrieved corpus supports an interaction between therapy exposure (environmental/iatrogenic) and acquisition of balanced translocations (including CBF fusions), but does not provide quantitative gene–environment interaction models. (boscaro2023modernriskstratification pages 4-5)
CBF-AML manifests as AML with marrow failure and circulating disease; within the retrieved evidence, explicit symptom frequencies are sparse. However, several measurable and clinically actionable phenotypes are supported:
A curated mapping table is provided below (artifact-01), including cytopenia, leukocytosis, recurrent infections, and fatigue as common AML-relevant phenotypes. (qin2022comprehensivemutationprofile pages 1-2, zhang2023efficacyofvenetoclax pages 1-2)
A targeted NGS cohort of 134 de novo CBF-AML patients reported the following co-mutation frequencies (overall cohort): KIT 33.6%, NRAS 33.6%, FLT3 18.7%, KRAS 13.4%, with low frequencies of canonical epigenetic modifier mutations (IDH1 1.5%, IDH2 0.7%, DNMT3A 2.2%, TET2 7.5%). (qin2022comprehensivemutationprofile pages 1-2)
Fusion-type heterogeneity was substantial: NRAS and KRAS were enriched in CBFB::MYH11 (NRAS 53.7% vs 20.0%; KRAS 27.8% vs 3.8%), whereas cohesin complex mutations were enriched in RUNX1::RUNX1T1 (11.3% vs 0%). (qin2022comprehensivemutationprofile pages 5-7, qin2022comprehensivemutationprofile pages 8-9)
In the same de novo cohort, 41.0% had additional cytogenetic abnormalities; common events included −X/−Y (24.6%) and +22 (9.7%), with +22 particularly frequent in inv(16) (20.1%). (qin2022comprehensivemutationprofile pages 2-3)
RUNX1::RUNX1T1 AML is described as transcriptionally reprogrammed; one transcriptomic analysis notes that RUNX1/RUNX1T1 occupies >4000 genomic sites and that it has been reported to “regulate alternative RNA splicing and induce transcriptome re-organization in leukemic cells.” (kanellou2023deregulatedgeneexpression pages 2-4)
The main environment-linked contributor supported in the retrieved evidence is prior cytotoxic chemotherapy and/or radiotherapy leading to therapy-related CBF-AML, with class-specific latency differences. (george2023therapyrelatedcorebinding pages 1-2)
No infectious etiologies were identified.
1) Initiation: acquisition of RUNX1::RUNX1T1 or CBFB::MYH11 creates a differentiation-blocking transcriptional perturbation (class II lesion). (george2023therapyrelatedcorebinding pages 1-2) 2) Cooperation: frequent signaling co-mutations (KIT/FLT3/RAS) enhance proliferation/survival, promoting expansion and progression. (qin2022comprehensivemutationprofile pages 1-2, george2023therapyrelatedcorebinding pages 1-2) 3) Persistence/relapse biology: residual leukemic clones can be tracked by fusion-transcript MRD and are associated with relapse risk; relapse remains a major clinical issue, particularly in subsets such as RUNX1::RUNX1T1. (george2023therapyrelatedcorebinding pages 4-5, kanellou2023deregulatedgeneexpression pages 1-2)
A 2024 proteogenomic study (TurboID proximity labeling) demonstrated that CBFB::MYH11 has a predominantly cytoplasmic interactome, and that CBFB::MYH11 can sequester RUNX1 into cytoplasmic aggregates, reducing nuclear CBF function; this was validated in primary human AML cells. (day2024proteogenomicanalysisreveals pages 1-2, day2024proteogenomicanalysisreveals pages 2-4)
Visual evidence: cytoplasmic localization and RUNX1 aggregate sequestration are shown in cropped figure panels from the Day et al. JCI paper. (day2024proteogenomicanalysisreveals media 35681b36, day2024proteogenomicanalysisreveals media e05b6c7f)
A 2024 JCI commentary emphasized this as a pathogenic mechanism (“cytoplasmic transcription factor sequestration”). (shilatifard2024cytoplasmictranscriptionfactor pages 1-1)
A curated suggestion table is provided (artifact-01), including hematopoietic cell differentiation (GO:0030098), chromatin organization (GO:0006325), and cell types such as CD34+ hematopoietic progenitors. (kanellou2023deregulatedgeneexpression pages 2-4, kreissig2023decipheringacutemyeloid pages 1-2)
CBF-AML primarily involves: - Bone marrow (UBERON:0002371; primary disease compartment and sampling site) (kanellou2023deregulatedgeneexpression pages 1-2) - Peripheral blood (UBERON:0000178; circulating blasts and blood-based monitoring) (kanellou2023deregulatedgeneexpression pages 1-2)
Subcellular localization is mechanistically relevant in CBFB::MYH11 AML: cytoplasmic sequestration of RUNX1 by the fusion. (day2024proteogenomicanalysisreveals pages 2-4, day2024proteogenomicanalysisreveals media 35681b36)
CBF-AML tends to occur at younger age at diagnosis and is often de novo, though therapy-related cases occur and tend to be older. (boscaro2023modernriskstratification pages 4-5, george2023therapyrelatedcorebinding pages 6-8)
Despite favorable-risk classification and high CR rates, relapse remains clinically important; RUNX1::RUNX1T1 AML is noted to have high relapse rates (~50% in a background statement). (kanellou2023deregulatedgeneexpression pages 1-2)
CBF-AML is not described as a Mendelian inherited disorder in the retrieved sources; it is driven by somatic fusion events. (george2023therapyrelatedcorebinding pages 1-2)
A 2023 review emphasizes qRT-PCR/RT-qPCR quantification of RUNX1::RUNX1T1 and CBFB::MYH11 transcripts as a preferred high-sensitivity MRD method; flow cytometry is useful but qPCR is preferred. (george2023therapyrelatedcorebinding pages 4-5)
Clinically used thresholds (examples): - RUNX1::RUNX1T1: >3-log reduction at end of induction and ≥4-log reduction at mid-consolidation associated with improved relapse-free survival. (george2023therapyrelatedcorebinding pages 4-5) - CBFB::MYH11: post-induction >10 copies normalized to 10^5 ABL associated with inferior molecular response/higher relapse risk. (george2023therapyrelatedcorebinding pages 4-5)
Assay normalization example (clinical cohort): a 2023 CBF-AML venetoclax/HMA cohort monitored MRD by RT-qPCR with fusion copies normalized to ABL (“copies per 10^5 copies of ABL”). (zhang2023efficacyofvenetoclax pages 1-2)
Differential diagnosis details (e.g., distinction from AML with other recurrent genetic abnormalities, mixed phenotype acute leukemia, APL) were not explicitly provided in the retrieved evidence corpus.
CBF-AML is generally considered chemosensitive with CR ~85–90% reported in a 2023 risk-stratification review and >85% in a 2023 therapy-related CBF review. (boscaro2023modernriskstratification pages 4-5, george2023therapyrelatedcorebinding pages 4-5)
A 2023 review summarizes long-term outcome benchmarks from intensive regimens and GO intensification (e.g., MRC AML15 8-year survival 66% with FLAG-Ida/HiDAC; GO-containing regimens with favorable long-term survival statistics). (george2023therapyrelatedcorebinding pages 4-5)
Therapy-related CBF-AML has worse overall survival than de novo CBF-AML but better outcomes than therapy-related AML with unfavorable cytogenetics; one summary comparison reports OS 100 weeks (t-CBF-AML) vs 621 weeks (de novo CBF-AML). (george2023therapyrelatedcorebinding pages 4-5)
Cooperating receptor tyrosine kinase mutations (e.g., KIT, FLT3) are repeatedly highlighted as clinically relevant, and MRD depth is emphasized as a strong prognostic factor. (george2023therapyrelatedcorebinding pages 4-5, george2023therapyrelatedcorebinding pages 1-2)
A 2023 review summarizes the standard approach as cytarabine/anthracycline induction (e.g., “7+3”) followed by high-dose cytarabine (HiDAC) consolidation, consistent with CBF-AML chemosensitivity. (george2023therapyrelatedcorebinding pages 4-5)
Addition of gemtuzumab ozogamicin (GO) to intensive chemotherapy is described as improving response and long-term outcomes in favorable/intermediate-risk AML including CBF-AML, and is integrated in CBF-focused regimens such as FLAG-GO in some centers. (george2023therapyrelatedcorebinding pages 4-5, george2023therapyrelatedcorebinding pages 9-10)
A 2023 retrospective cohort of 30 newly diagnosed unfit CBF-AML treated with venetoclax + azacitidine or decitabine found markedly different induction response by fusion subtype: - t(8;21): CR/CRi 31% (4/13) after one cycle - inv(16)/t(16;16): CR/CRi 100% (17/17) after one cycle - overall: 2-year OS 92.2% (95% CI 70.8–98.0%) with MRD assessed by fusion RT-qPCR normalized to ABL. (zhang2023efficacyofvenetoclax pages 1-2)
This study explicitly states clinical background definitions and standard practice: “Core binding factor acute myeloid leukemia (CBF-AML) features the recurrent chromosomal rearrangements… which encode the RUNX1::RUNX1T1 and CBFB::MYH11 fusion genes.” (zhang2023efficacyofvenetoclax pages 1-2)
A 2024 real-world study (preprint) in favorable-risk unfit AML also reports CBF-subtype-specific CR/CRi differences (RUNX1::RUNX1T1 35.7% vs CBFB::MYH11 90.9%) and demonstrates that MRD negativity strongly associates with improved 2-year OS/EFS. (chen2024efficacyofvenetoclax pages 8-11)
Because of high response rates, allogeneic transplantation is often not routine in CR1 for standard favorable-risk CBF-AML; however, MRD persistence and inability to complete therapy are cited as reasons to consider early donor search/transplant. (george2023therapyrelatedcorebinding pages 4-5, george2023therapyrelatedcorebinding pages 6-8)
The retrieved ClinicalTrials.gov records show active development of risk- and genotype-directed therapies: - NCT06917911 (NCI MyeloMATCH; Phase II; NOT_YET_RECRUITING; est. 2026): compares adding venetoclax vs gemtuzumab ozogamicin to 7+3 in CBF-AML; primary endpoint is CR without MRD by multiparameter flow cytometry. URL: https://clinicaltrials.gov/study/NCT06917911 (NCT06917911 chunk 1) - NCT03686345 (Phase II; terminated per retrieved metadata): midostaurin + standard chemotherapy in core-binding factor leukemia; record links to publication PMID: 39659145. URL: https://clinicaltrials.gov/study/NCT03686345 (NCT03686345 chunk 2) - NCT06783790 (Phase II; recruiting; 2025): for relapsed AML after allo-HSCT with CBF fusions and KIT D816/N822 mutations; regimen combines avapritinib + azacitidine + venetoclax. URL: https://clinicaltrials.gov/study/NCT06783790 (NCT06783790 chunk 1) - NCT07028073 (recruiting; 2025): “new treatment” for newly diagnosed KIT-mutated CBF-AML (details incomplete in excerpt). URL: https://clinicaltrials.gov/study/NCT07028073 (NCT07028073 chunk 2)
Suggested treatment/monitoring mappings (MAXO IDs not retrievable from evidence corpus) are provided in artifact-01. (george2023therapyrelatedcorebinding pages 4-5, zhang2023efficacyofvenetoclax pages 1-2)
No disease-specific primary prevention strategies were identified beyond general minimization of exposure to leukemogenic cytotoxic therapies when clinically feasible; the strongest “secondary prevention” concept in the retrieved evidence is early relapse detection via MRD monitoring (qRT-PCR or flow cytometry/NGS depending on protocol). (george2023therapyrelatedcorebinding pages 4-5, NCT06917911 chunk 1)
No naturally occurring CBF-AML analogs in other species were identified in the retrieved evidence corpus.
Xenografts in immunodeficient mice lack adaptive immunity and have species-specific microenvironmental differences that “can lead to biased results,” and ex vivo systems cannot recapitulate full organismal complexity; thus complementary models are needed. (kreissig2023decipheringacutemyeloid pages 12-13)
The following tables are provided to support knowledge-base population and curation.
| Category | Finding / Metric | Quantitative detail | Source (year) | PMID | URL | Citation |
|---|---|---|---|---|---|---|
| Definition / identifiers | Core-binding factor acute myeloid leukemia (CBF-AML) | Defined by t(8;21)(q22;q22) / RUNX1::RUNX1T1 and inv(16)(p13.1q22) or t(16;16)(p13.1;q22) / CBFB::MYH11 | Boscaro et al. 2023; George et al. 2023 | https://doi.org/10.3390/cancers15133512 ; https://doi.org/10.2217/ijh-2022-0004 | (boscaro2023modernriskstratification pages 4-5, george2023therapyrelatedcorebinding pages 1-2) | |
| Epidemiology | Approximate proportion of AML | CBF-AML accounts for ~10–15% of newly diagnosed AML; George review also cites roughly 15% of AML | Boscaro et al. 2023; George et al. 2023 | https://doi.org/10.3390/cancers15133512 ; https://doi.org/10.2217/ijh-2022-0004 | (boscaro2023modernriskstratification pages 4-5, george2023therapyrelatedcorebinding pages 1-2) | |
| Genomic landscape cohort | De novo CBF-AML cohort analyzed by NGS | n=134 total; 80 RUNX1-RUNX1T1, 54 CBFB-MYH11; 112-gene panel, ~1000× coverage, VAF >3% | Qin et al. 2022 | https://doi.org/10.4274/tjh.galenos.2022.2021.0641 | (qin2022comprehensivemutationprofile pages 1-2, qin2022comprehensivemutationprofile pages 2-3) | |
| Co-mutations | KIT mutation frequency | 33.6% overall (45/134); 35.0% RUNX1-RUNX1T1 vs 31.5% CBFB-MYH11 | Qin et al. 2022 | https://doi.org/10.4274/tjh.galenos.2022.2021.0641 | (qin2022comprehensivemutationprofile pages 1-2, qin2022comprehensivemutationprofile pages 5-7) | |
| Co-mutations | NRAS mutation frequency | 33.6% overall (45/134); 20.0% RUNX1-RUNX1T1 (16/80) vs 53.7% CBFB-MYH11 (29/54) | Qin et al. 2022 | https://doi.org/10.4274/tjh.galenos.2022.2021.0641 | (qin2022comprehensivemutationprofile pages 1-2, qin2022comprehensivemutationprofile pages 5-7) | |
| Co-mutations | KRAS mutation frequency | 13.4% overall (18/134); 3.8% RUNX1-RUNX1T1 (3/80) vs 27.8% CBFB-MYH11 (15/54) | Qin et al. 2022 | https://doi.org/10.4274/tjh.galenos.2022.2021.0641 | (qin2022comprehensivemutationprofile pages 1-2, qin2022comprehensivemutationprofile pages 5-7) | |
| Co-mutations | FLT3 mutation frequency | 18.7% overall (25/134); similar rates across fusion types | Qin et al. 2022 | https://doi.org/10.4274/tjh.galenos.2022.2021.0641 | (qin2022comprehensivemutationprofile pages 1-2, qin2022comprehensivemutationprofile pages 5-7) | |
| Co-mutations | Epigenetic modifier mutation frequencies | IDH1 1.5%, IDH2 0.7%, DNMT3A 2.2%, TET2 7.5% | Qin et al. 2022 | https://doi.org/10.4274/tjh.galenos.2022.2021.0641 | (qin2022comprehensivemutationprofile pages 1-2, qin2022comprehensivemutationprofile pages 8-9) | |
| Co-mutations / pathways | Signaling-pathway mutation burden | 86.6% overall (116/134); 80.0% RUNX1-RUNX1T1 vs 96.3% CBFB-MYH11 | Qin et al. 2022 | https://doi.org/10.4274/tjh.galenos.2022.2021.0641 | (qin2022comprehensivemutationprofile pages 5-7, qin2022comprehensivemutationprofile pages 7-8) | |
| Co-mutations / pathways | Cohesin-complex mutations | 6.7% overall (9/134); 11.3% RUNX1-RUNX1T1, 0% CBFB-MYH11 | Qin et al. 2022 | https://doi.org/10.4274/tjh.galenos.2022.2021.0641 | (qin2022comprehensivemutationprofile pages 5-7, qin2022comprehensivemutationprofile pages 8-9) | |
| Cytogenetics | Secondary chromosomal abnormalities | 41.0% (55/134) overall; 45.0% t(8;21) vs 35.2% inv(16)/t(16;16); common changes: -X/-Y 24.6% (33/134), +22 9.7% (13/134) | Qin et al. 2022 | https://doi.org/10.4274/tjh.galenos.2022.2021.0641 | (qin2022comprehensivemutationprofile pages 2-3) | |
| MRD diagnostics | Preferred MRD method | qRT-PCR / RT-qPCR for RUNX1::RUNX1T1 and CBFB::MYH11 is the preferred, highly sensitive MRD method; flow cytometry useful but qPCR preferred | George et al. 2023 | https://doi.org/10.2217/ijh-2022-0004 | (george2023therapyrelatedcorebinding pages 4-5, george2023therapyrelatedcorebinding pages 10-11) | |
| MRD thresholds | RUNX1::RUNX1T1 molecular response thresholds | >3-log reduction at end of induction and ≥4-log reduction at mid-consolidation associated with improved relapse-free survival | George et al. 2023 | https://doi.org/10.2217/ijh-2022-0004 | (george2023therapyrelatedcorebinding pages 4-5) | |
| MRD thresholds | CBFB::MYH11 molecular threshold | Post-induction >10 CBFB::MYH11 copies normalized to 10^5 ABL associated with lower-quality molecular response / higher relapse risk | George et al. 2023 | https://doi.org/10.2217/ijh-2022-0004 | (george2023therapyrelatedcorebinding pages 4-5) | |
| Standard intensive therapy context | Complete remission rate with standard intensive therapy | Reported CR rate 85–90% in CBF-AML; review also states CR rates >85% with induction/consolidation approaches | Boscaro et al. 2023; George et al. 2023 | https://doi.org/10.3390/cancers15133512 ; https://doi.org/10.2217/ijh-2022-0004 | (boscaro2023modernriskstratification pages 4-5, george2023therapyrelatedcorebinding pages 4-5) | |
| Standard intensive therapy context | Selected long-term survival statistics | MRC AML15: 8-year survival 66% with FLAG-Ida + HiDAC; GO-containing approaches cited with 8-year OS after CR 72%, 5-year survival 76% vs 54% in favorable cytogenetics, and FLAG-GO 5-year OS 71%, 5-year RFS 87% | George et al. 2023 | https://doi.org/10.2217/ijh-2022-0004 | (george2023therapyrelatedcorebinding pages 4-5) | |
| VEN+HMA cohort | Newly diagnosed unfit CBF-AML treated with VEN+HMA | n=30 total; 13 t(8;21) and 17 inv(16)/t(16;16) | Zhang et al. 2023 | https://doi.org/10.1038/s41408-023-00928-1 | (zhang2023efficacyofvenetoclax pages 1-2) | |
| VEN+HMA genomics | Baseline mutation frequencies in Zhang cohort | KIT 53% (16/30), RAS 33% (10/30), FLT3 13% (4/30), TP53 0% | Zhang et al. 2023 | https://doi.org/10.1038/s41408-023-00928-1 | (zhang2023efficacyofvenetoclax pages 1-2, zhang2023efficacyofvenetoclax pages 2-3) | |
| VEN+HMA MRD assay | Molecular monitoring method in Zhang cohort | Real-time quantitative RT-PCR of fusion transcripts normalized to ABL, reported as copies per 10^5 ABL | Zhang et al. 2023 | https://doi.org/10.1038/s41408-023-00928-1 | (zhang2023efficacyofvenetoclax pages 1-2) | |
| VEN+HMA efficacy | CR/CRi after one cycle: t(8;21) | 31% (4/13) | Zhang et al. 2023 | https://doi.org/10.1038/s41408-023-00928-1 | (zhang2023efficacyofvenetoclax pages 1-2) | |
| VEN+HMA efficacy | CR/CRi after one cycle: inv(16)/t(16;16) | 100% (17/17) | Zhang et al. 2023 | https://doi.org/10.1038/s41408-023-00928-1 | (zhang2023efficacyofvenetoclax pages 1-2, zhang2023efficacyofvenetoclax pages 2-3) | |
| VEN+HMA molecular response | CBFB::MYH11 transcript level after one cycle | Median 340 copies (range 0–20,650) among inv(16)/t(16;16) patients after one cycle | Zhang et al. 2023 | https://doi.org/10.1038/s41408-023-00928-1 | (zhang2023efficacyofvenetoclax pages 1-2) | |
| VEN+HMA survival | Overall survival in Zhang cohort | 2-year OS 92.2% (95% CI 70.8–98.0%); median follow-up 11.6 months | Zhang et al. 2023 | https://doi.org/10.1038/s41408-023-00928-1 | (zhang2023efficacyofvenetoclax pages 1-2) | |
| VEN+HMA interpretation | Subtype-specific activity | Authors report VEN+HMA appears useful for inv(16)/t(16;16) AML, whereas t(8;21) predicts minimal benefit | Zhang et al. 2023 | https://doi.org/10.1038/s41408-023-00928-1 | (zhang2023efficacyofvenetoclax pages 3-4) | |
| VA preprint cohort | Favorable-risk unfit AML real-world study with CBF subsets | n=70 total favorable-risk AML; 14 RUNX1::RUNX1T1, 11 CBFB::MYH11 | Chen et al. 2024 preprint | https://doi.org/10.21203/rs.3.rs-5301043/v1 | (chen2024efficacyofvenetoclax pages 8-11) | |
| VA preprint efficacy | CR/CRi by subtype | RUNX1::RUNX1T1 35.7% (5/14); CBFB::MYH11 90.9% (10/11); overall cohort 84.3% (59/70) | Chen et al. 2024 preprint | https://doi.org/10.21203/rs.3.rs-5301043/v1 | (chen2024efficacyofvenetoclax pages 8-11) | |
| VA preprint MRD / outcomes | MRD-negativity and survival | After 2 consolidation cycles, MRD negativity 85.0% (17/20) in VA group vs 73.3% (22/30) in chemotherapy group; MRD-negative patients had better 2-year OS 89.8% vs 65.6% (p=0.01) and 2-year EFS 51.4% vs 0% (p<0.01) | Chen et al. 2024 preprint | https://doi.org/10.21203/rs.3.rs-5301043/v1 | (chen2024efficacyofvenetoclax pages 8-11) |
Table: This table compiles core identifiers, genomic features, MRD thresholds, and recent venetoclax-based outcome data for core-binding factor AML. It is useful as a compact reference for disease definition, co-mutation patterns, and subtype-specific treatment response.
| Category | Entity / clinical concept | Suggested ontology term | Identifier / status | Evidence / rationale | Citation |
|---|---|---|---|---|---|
| Disease | Core-binding factor acute myeloid leukemia | Core-binding factor acute myeloid leukemia | MONDO not found in retrieved evidence | CBF-AML defined by RUNX1::RUNX1T1 and CBFB::MYH11 rearrangements; specific MONDO term was not retrieved in available context | (boscaro2023modernriskstratification pages 4-5, george2023therapyrelatedcorebinding pages 1-2) |
| Disease subtype | AML with t(8;21)(q22;q22.1); RUNX1::RUNX1T1 | Acute myeloid leukemia with RUNX1::RUNX1T1 | Suggested only | One defining CBF-AML subtype in retrieved reviews and cohorts | (boscaro2023modernriskstratification pages 4-5, george2023therapyrelatedcorebinding pages 1-2) |
| Disease subtype | AML with inv(16)(p13.1q22) / t(16;16)(p13.1;q22); CBFB::MYH11 | Acute myeloid leukemia with CBFB::MYH11 | Suggested only | One defining CBF-AML subtype in retrieved reviews and cohorts | (boscaro2023modernriskstratification pages 4-5, george2023therapyrelatedcorebinding pages 1-2) |
| HPO phenotype | Cytopenia | Cytopenia | HP:0001871 | Common AML manifestation; relevant umbrella phenotype for marrow failure in CBF-AML | (george2023therapyrelatedcorebinding pages 1-2, kanellou2023deregulatedgeneexpression pages 1-2) |
| HPO phenotype | Anemia | Anemia | HP:0001903 | Suggested for symptomatic marrow failure and fatigue | (george2023therapyrelatedcorebinding pages 1-2, kanellou2023deregulatedgeneexpression pages 1-2) |
| HPO phenotype | Thrombocytopenia | Thrombocytopenia | HP:0001873 | Suggested for bleeding tendency in AML | (george2023therapyrelatedcorebinding pages 1-2, kanellou2023deregulatedgeneexpression pages 1-2) |
| HPO phenotype | Neutropenia | Neutropenia | HP:0001875 | Suggested for infection susceptibility in AML | (george2023therapyrelatedcorebinding pages 1-2, kanellou2023deregulatedgeneexpression pages 1-2) |
| HPO phenotype | Leukocytosis | Leukocytosis | HP:0001974 | Supported by CBF-AML cohort studies showing elevated WBC, especially inv(16)/CBFB::MYH11 | (qin2022comprehensivemutationprofile pages 1-2, qin2022comprehensivemutationprofile pages 2-3) |
| HPO phenotype | Recurrent infections / increased infection susceptibility | Recurrent infections | HP:0002719 | Suggested because infections are common clinical consequences of AML-associated neutropenia and were a frequent reason patients were unfit for intensive therapy | (zhang2023efficacyofvenetoclax pages 1-2) |
| HPO phenotype | Bleeding tendency | Abnormal bleeding | HP:0001892 | Suggested for thrombocytopenia-associated bleeding manifestations | (george2023therapyrelatedcorebinding pages 1-2) |
| HPO phenotype | Fatigue | Fatigue | HP:0012378 | Suggested common symptom of AML/anemia | (kanellou2023deregulatedgeneexpression pages 1-2) |
| GO process | Differentiation block / altered hematopoiesis | Hematopoietic cell differentiation | GO:0030098 | Core mechanism of CBF fusions; two-hit model emphasizes differentiation impairment | (george2023therapyrelatedcorebinding pages 1-2, kanellou2023deregulatedgeneexpression pages 2-4) |
| GO process | Transcriptional dysregulation | Regulation of DNA-templated transcription | GO:0006355 | RUNX1::RUNX1T1 acts through transcriptional repression/rewiring | (shilatifard2024cytoplasmictranscriptionfactor pages 1-1, kanellou2023deregulatedgeneexpression pages 1-2) |
| GO process | Chromatin remodeling | Chromatin organization | GO:0006325 | CBF leukemia mechanisms include chromatin remodeling and altered transcriptional programs | (day2024proteogenomicanalysisreveals pages 18-18, kanellou2023deregulatedgeneexpression pages 16-17) |
| GO process | Aberrant proliferation | Cell population proliferation | GO:0008283 | Cooperating kinase/RAS lesions promote proliferation in two-hit leukemogenesis | (george2023therapyrelatedcorebinding pages 1-2, qin2022comprehensivemutationprofile pages 1-2) |
| GO process | Signaling activation | Intracellular signal transduction | GO:0035556 | Frequent KIT/FLT3/RAS pathway co-mutations support signaling-process involvement | (qin2022comprehensivemutationprofile pages 1-2, qin2022comprehensivemutationprofile pages 5-7) |
| GO process | Residual leukemic persistence / relapse biology | Regulation of cell death | GO:0010941 | Suggested because relapse and treatment resistance remain major clinical issues in CBF-AML | (kanellou2023deregulatedgeneexpression pages 1-2, day2024proteogenomicanalysisreveals pages 18-18) |
| Cell Ontology | Hematopoietic stem/progenitor cell (CD34+) | Hematopoietic stem cell / hematopoietic progenitor cell | CL:0000037 / CL:0000826 | Human primary CD34+ HSPCs are a key experimental system for AML transcription-factor modeling | (kanellou2023deregulatedgeneexpression pages 2-4) |
| Cell Ontology | Myeloid progenitor | Myeloid progenitor cell | CL:0000051 | CBF-AML arises in myeloid progenitor context | (george2023therapyrelatedcorebinding pages 1-2, kanellou2023deregulatedgeneexpression pages 1-2) |
| Cell Ontology | Myeloblast | Myeloblast | CL:0000763 | Suggested malignant blast cell type in AML | (george2023therapyrelatedcorebinding pages 1-2, kanellou2023deregulatedgeneexpression pages 1-2) |
| Cell Ontology | Leukemic blast | Hematopoietic blast cell | CL:0008001 | Suggested broader blast-cell mapping when exact myeloblast annotation is uncertain | (george2023therapyrelatedcorebinding pages 1-2) |
| UBERON anatomy | Bone marrow | Bone marrow | UBERON:0002371 | Primary disease site and sampling compartment in AML/CBF-AML | (george2023therapyrelatedcorebinding pages 1-2, kanellou2023deregulatedgeneexpression pages 1-2) |
| UBERON anatomy | Peripheral blood | Blood | UBERON:0000178 | Disease commonly involves circulating blasts / blood-based monitoring | (george2023therapyrelatedcorebinding pages 1-2, kanellou2023deregulatedgeneexpression pages 1-2) |
| GO cellular component | Nucleus | Nucleus | GO:0005634 | RUNX1::RUNX1T1 acts in nuclear repressor complexes | (day2024proteogenomicanalysisreveals pages 1-2, shilatifard2024cytoplasmictranscriptionfactor pages 1-1) |
| GO cellular component | Cytoplasm | Cytoplasm | GO:0005737 | CBFB::MYH11 is predominantly cytoplasmic and sequesters RUNX1 in cytoplasmic aggregates | (day2024proteogenomicanalysisreveals pages 1-2, day2024proteogenomicanalysisreveals pages 2-4, day2024proteogenomicanalysisreveals media 35681b36) |
| MAXO therapy | Induction chemotherapy | Induction chemotherapy | MAXO suggested; exact ID not retrieved | Standard initial therapy for CBF-AML | (george2023therapyrelatedcorebinding pages 4-5, boscaro2023modernriskstratification pages 4-5) |
| MAXO therapy | Cytarabine-based therapy / HiDAC consolidation | Cytarabine therapy | MAXO suggested; exact ID not retrieved | Cytarabine sensitivity and HiDAC consolidation are central in CBF-AML care | (george2023therapyrelatedcorebinding pages 4-5, george2023therapyrelatedcorebinding pages 1-2) |
| MAXO therapy | Gemtuzumab ozogamicin-containing therapy | Gemtuzumab ozogamicin therapy | MAXO suggested; exact ID not retrieved | Addition of GO improves long-term outcomes in favorable/intermediate AML including CBF-AML | (george2023therapyrelatedcorebinding pages 4-5, george2023therapyrelatedcorebinding pages 9-10) |
| MAXO therapy | Venetoclax-based therapy | Venetoclax therapy | MAXO suggested; exact ID not retrieved | Recent non-intensive strategy with subtype-specific activity in CBF-AML | (zhang2023efficacyofvenetoclax pages 1-2, chen2024efficacyofvenetoclax pages 8-11) |
| MAXO therapy | Hypomethylating-agent therapy | Azacitidine therapy | MAXO suggested; exact ID not retrieved | Used with venetoclax in unfit/newly diagnosed CBF-AML cohorts | (zhang2023efficacyofvenetoclax pages 1-2, chen2024efficacyofvenetoclax pages 8-11) |
| MAXO therapy | Allogeneic transplantation | Allogeneic hematopoietic stem cell transplantation | MAXO suggested; exact ID not retrieved | Considered selectively; often not routine in CR1 for standard favorable-risk CBF-AML | (george2023therapyrelatedcorebinding pages 4-5, george2023therapyrelatedcorebinding pages 10-11) |
| MAXO monitoring | Molecular MRD assessment | MRD monitoring by qRT-PCR | MAXO suggested; exact ID not retrieved | Preferred MRD method uses qRT-PCR for RUNX1::RUNX1T1 and CBFB::MYH11 transcripts | (george2023therapyrelatedcorebinding pages 4-5, zhang2023efficacyofvenetoclax pages 1-2) |
| Note | Validation status | These ontology mappings are suggestions | Not exhaustively validated in retrieved texts | Intended to support knowledge-base curation; several exact ontology IDs, especially MAXO and MONDO subtype terms, were not directly retrieved from context | (boscaro2023modernriskstratification pages 4-5, george2023therapyrelatedcorebinding pages 1-2) |
Table: This table proposes ontology mappings for disease, phenotypes, mechanisms, cell types, anatomy, and interventions relevant to core-binding factor AML. It is useful as a curation aid, but several identifiers—especially MONDO subtype and MAXO treatment IDs—were not directly validated in the retrieved evidence.
References
(boscaro2023modernriskstratification pages 4-5): Eleonora Boscaro, Irene Urbino, Federica Maria Catania, Giulia Arrigo, Carolina Secreto, Matteo Olivi, Stefano D’Ardia, Chiara Frairia, Valentina Giai, Roberto Freilone, Dario Ferrero, Ernesta Audisio, and Marco Cerrano. Modern risk stratification of acute myeloid leukemia in 2023: integrating established and emerging prognostic factors. Cancers, 15:3512, Jul 2023. URL: https://doi.org/10.3390/cancers15133512, doi:10.3390/cancers15133512. This article has 35 citations.
(george2023therapyrelatedcorebinding pages 1-2): Binsah George, Binoy Yohannan, Virginia Mohlere, and Anneliese Gonzalez. Therapy-related core binding factor acute myeloid leukemia. International Journal of Hematologic Oncology, Feb 2023. URL: https://doi.org/10.2217/ijh-2022-0004, doi:10.2217/ijh-2022-0004. This article has 8 citations.
(kanellou2023deregulatedgeneexpression pages 1-2): Peggy Kanellou, Ilias Georgakopoulos-Soares, and Apostolos Zaravinos. Deregulated gene expression profiles and regulatory networks in adult and pediatric runx1/runx1t1-positive aml patients. Cancers, 15:1795, Mar 2023. URL: https://doi.org/10.3390/cancers15061795, doi:10.3390/cancers15061795. This article has 9 citations.
(george2023therapyrelatedcorebinding pages 4-5): Binsah George, Binoy Yohannan, Virginia Mohlere, and Anneliese Gonzalez. Therapy-related core binding factor acute myeloid leukemia. International Journal of Hematologic Oncology, Feb 2023. URL: https://doi.org/10.2217/ijh-2022-0004, doi:10.2217/ijh-2022-0004. This article has 8 citations.
(zhang2023efficacyofvenetoclax pages 1-2): Keyuan Zhang, Xiang Zhang, Yang Xu, Shengli Xue, Huiying Qiu, Xiaowen Tang, Yue Han, Suning Chen, Aining Sun, Yanming Zhang, Depei Wu, and Ying Wang. Efficacy of venetoclax combined with hypomethylating agents in young, and unfit patients with newly diagnosed core binding factor acute myeloid leukemia. Blood Cancer Journal, Oct 2023. URL: https://doi.org/10.1038/s41408-023-00928-1, doi:10.1038/s41408-023-00928-1. This article has 32 citations and is from a domain leading peer-reviewed journal.
(chen2024efficacyofvenetoclax pages 8-11): Qi Chen, Ying Wu, Wenjing Yu, Xiaolu Zhu, Xuying Pei, Wenbing Duan, Jinsong Jia, Jing Wang, Xiaosu Zhao, Guorui Ruan, Yingjun Chang, Hongxia Shi, Xiaojun Huang, and Hao Jiang. Efficacy of venetoclax and azacitidine based therapy in favorable-risk unfit acute myeloid leukemia: a real-world study. Oct 2024. URL: https://doi.org/10.21203/rs.3.rs-5301043/v1, doi:10.21203/rs.3.rs-5301043/v1.
(day2024proteogenomicanalysisreveals pages 1-2): Ryan B. Day, Julia A. Hickman, Ziheng Xu, Casey D.S. Katerndahl, Francesca Ferraro, Sai Mukund Ramakrishnan, Petra Erdmann-Gilmore, Robert W. Sprung, Yiling Mi, R. Reid Townsend, Christopher A. Miller, and Timothy J. Ley. Proteogenomic analysis reveals cytoplasmic sequestration of runx1 by the acute myeloid leukemia–initiating cbfb::myh11 oncofusion protein. Journal of Clinical Investigation, Dec 2024. URL: https://doi.org/10.1172/jci176311, doi:10.1172/jci176311. This article has 14 citations and is from a highest quality peer-reviewed journal.
(day2024proteogenomicanalysisreveals media 35681b36): Ryan B. Day, Julia A. Hickman, Ziheng Xu, Casey D.S. Katerndahl, Francesca Ferraro, Sai Mukund Ramakrishnan, Petra Erdmann-Gilmore, Robert W. Sprung, Yiling Mi, R. Reid Townsend, Christopher A. Miller, and Timothy J. Ley. Proteogenomic analysis reveals cytoplasmic sequestration of runx1 by the acute myeloid leukemia–initiating cbfb::myh11 oncofusion protein. Journal of Clinical Investigation, Dec 2024. URL: https://doi.org/10.1172/jci176311, doi:10.1172/jci176311. This article has 14 citations and is from a highest quality peer-reviewed journal.
(qin2022comprehensivemutationprofile pages 2-3): Wei Qin, Xiayu Chen, Hong Jie Shen, Zheng Wang, Xiaohui Cai, Naike Jiang, and Haiying Hua. Comprehensive mutation profile in acute myeloid leukemia patients with runx1-runx1t1 or cbfb-myh11 fusions. Turkish Journal of Hematology, 39:84-93, Apr 2022. URL: https://doi.org/10.4274/tjh.galenos.2022.2021.0641, doi:10.4274/tjh.galenos.2022.2021.0641. This article has 11 citations.
(qin2022comprehensivemutationprofile pages 1-2): Wei Qin, Xiayu Chen, Hong Jie Shen, Zheng Wang, Xiaohui Cai, Naike Jiang, and Haiying Hua. Comprehensive mutation profile in acute myeloid leukemia patients with runx1-runx1t1 or cbfb-myh11 fusions. Turkish Journal of Hematology, 39:84-93, Apr 2022. URL: https://doi.org/10.4274/tjh.galenos.2022.2021.0641, doi:10.4274/tjh.galenos.2022.2021.0641. This article has 11 citations.
(qin2022comprehensivemutationprofile pages 5-7): Wei Qin, Xiayu Chen, Hong Jie Shen, Zheng Wang, Xiaohui Cai, Naike Jiang, and Haiying Hua. Comprehensive mutation profile in acute myeloid leukemia patients with runx1-runx1t1 or cbfb-myh11 fusions. Turkish Journal of Hematology, 39:84-93, Apr 2022. URL: https://doi.org/10.4274/tjh.galenos.2022.2021.0641, doi:10.4274/tjh.galenos.2022.2021.0641. This article has 11 citations.
(qin2022comprehensivemutationprofile pages 8-9): Wei Qin, Xiayu Chen, Hong Jie Shen, Zheng Wang, Xiaohui Cai, Naike Jiang, and Haiying Hua. Comprehensive mutation profile in acute myeloid leukemia patients with runx1-runx1t1 or cbfb-myh11 fusions. Turkish Journal of Hematology, 39:84-93, Apr 2022. URL: https://doi.org/10.4274/tjh.galenos.2022.2021.0641, doi:10.4274/tjh.galenos.2022.2021.0641. This article has 11 citations.
(kanellou2023deregulatedgeneexpression pages 2-4): Peggy Kanellou, Ilias Georgakopoulos-Soares, and Apostolos Zaravinos. Deregulated gene expression profiles and regulatory networks in adult and pediatric runx1/runx1t1-positive aml patients. Cancers, 15:1795, Mar 2023. URL: https://doi.org/10.3390/cancers15061795, doi:10.3390/cancers15061795. This article has 9 citations.
(day2024proteogenomicanalysisreveals pages 2-4): Ryan B. Day, Julia A. Hickman, Ziheng Xu, Casey D.S. Katerndahl, Francesca Ferraro, Sai Mukund Ramakrishnan, Petra Erdmann-Gilmore, Robert W. Sprung, Yiling Mi, R. Reid Townsend, Christopher A. Miller, and Timothy J. Ley. Proteogenomic analysis reveals cytoplasmic sequestration of runx1 by the acute myeloid leukemia–initiating cbfb::myh11 oncofusion protein. Journal of Clinical Investigation, Dec 2024. URL: https://doi.org/10.1172/jci176311, doi:10.1172/jci176311. This article has 14 citations and is from a highest quality peer-reviewed journal.
(day2024proteogenomicanalysisreveals media e05b6c7f): Ryan B. Day, Julia A. Hickman, Ziheng Xu, Casey D.S. Katerndahl, Francesca Ferraro, Sai Mukund Ramakrishnan, Petra Erdmann-Gilmore, Robert W. Sprung, Yiling Mi, R. Reid Townsend, Christopher A. Miller, and Timothy J. Ley. Proteogenomic analysis reveals cytoplasmic sequestration of runx1 by the acute myeloid leukemia–initiating cbfb::myh11 oncofusion protein. Journal of Clinical Investigation, Dec 2024. URL: https://doi.org/10.1172/jci176311, doi:10.1172/jci176311. This article has 14 citations and is from a highest quality peer-reviewed journal.
(shilatifard2024cytoplasmictranscriptionfactor pages 1-1): Ali Shilatifard. Cytoplasmic transcription factor sequestration drives the pathogenesis of a rearranged leukemia. The Journal of Clinical Investigation, Feb 2024. URL: https://doi.org/10.1172/jci179105, doi:10.1172/jci179105. This article has 0 citations.
(kreissig2023decipheringacutemyeloid pages 1-2): Sophie Kreissig, Roland Windisch, and Christian Wichmann. Deciphering acute myeloid leukemia associated transcription factors in human primary cd34+ hematopoietic stem/progenitor cells. Cells, 13:78, Dec 2023. URL: https://doi.org/10.3390/cells13010078, doi:10.3390/cells13010078. This article has 1 citations.
(george2023therapyrelatedcorebinding pages 6-8): Binsah George, Binoy Yohannan, Virginia Mohlere, and Anneliese Gonzalez. Therapy-related core binding factor acute myeloid leukemia. International Journal of Hematologic Oncology, Feb 2023. URL: https://doi.org/10.2217/ijh-2022-0004, doi:10.2217/ijh-2022-0004. This article has 8 citations.
(george2023therapyrelatedcorebinding pages 9-10): Binsah George, Binoy Yohannan, Virginia Mohlere, and Anneliese Gonzalez. Therapy-related core binding factor acute myeloid leukemia. International Journal of Hematologic Oncology, Feb 2023. URL: https://doi.org/10.2217/ijh-2022-0004, doi:10.2217/ijh-2022-0004. This article has 8 citations.
(NCT06917911 chunk 1): Testing the Addition of Venetoclax or Gemtuzumab Ozogamicin (GO) to Usual Treatment Regimen (Cytarabine and Daunorubicin, "7+3") for Core Binding Factor Acute Myeloid Leukemia (CBF-AML) to Improve Response (A MyeloMATCH Treatment Trial). National Cancer Institute (NCI). 2026. ClinicalTrials.gov Identifier: NCT06917911
(NCT03686345 chunk 2): Midostaurin Associated With Standard Chemotherapy in Patients With Core-binding Factor Leukemia. Niguarda Hospital. 2018. ClinicalTrials.gov Identifier: NCT03686345
(NCT06783790 chunk 1): Avapritinib Combined With Azacitidine and Venetoclax in the Treatment of Relapsed AML After Allo-HSCT. Institute of Hematology & Blood Diseases Hospital, China. 2025. ClinicalTrials.gov Identifier: NCT06783790
(NCT07028073 chunk 2): Chen Suning. A New Treatment of Newly Diagnosed KIT Mutation CBF-Acute Myeloid Leukemia. The First Affiliated Hospital of Soochow University. 2025. ClinicalTrials.gov Identifier: NCT07028073
(kreissig2023decipheringacutemyeloid pages 12-13): Sophie Kreissig, Roland Windisch, and Christian Wichmann. Deciphering acute myeloid leukemia associated transcription factors in human primary cd34+ hematopoietic stem/progenitor cells. Cells, 13:78, Dec 2023. URL: https://doi.org/10.3390/cells13010078, doi:10.3390/cells13010078. This article has 1 citations.
(qin2022comprehensivemutationprofile pages 7-8): Wei Qin, Xiayu Chen, Hong Jie Shen, Zheng Wang, Xiaohui Cai, Naike Jiang, and Haiying Hua. Comprehensive mutation profile in acute myeloid leukemia patients with runx1-runx1t1 or cbfb-myh11 fusions. Turkish Journal of Hematology, 39:84-93, Apr 2022. URL: https://doi.org/10.4274/tjh.galenos.2022.2021.0641, doi:10.4274/tjh.galenos.2022.2021.0641. This article has 11 citations.
(george2023therapyrelatedcorebinding pages 10-11): Binsah George, Binoy Yohannan, Virginia Mohlere, and Anneliese Gonzalez. Therapy-related core binding factor acute myeloid leukemia. International Journal of Hematologic Oncology, Feb 2023. URL: https://doi.org/10.2217/ijh-2022-0004, doi:10.2217/ijh-2022-0004. This article has 8 citations.
(zhang2023efficacyofvenetoclax pages 2-3): Keyuan Zhang, Xiang Zhang, Yang Xu, Shengli Xue, Huiying Qiu, Xiaowen Tang, Yue Han, Suning Chen, Aining Sun, Yanming Zhang, Depei Wu, and Ying Wang. Efficacy of venetoclax combined with hypomethylating agents in young, and unfit patients with newly diagnosed core binding factor acute myeloid leukemia. Blood Cancer Journal, Oct 2023. URL: https://doi.org/10.1038/s41408-023-00928-1, doi:10.1038/s41408-023-00928-1. This article has 32 citations and is from a domain leading peer-reviewed journal.
(zhang2023efficacyofvenetoclax pages 3-4): Keyuan Zhang, Xiang Zhang, Yang Xu, Shengli Xue, Huiying Qiu, Xiaowen Tang, Yue Han, Suning Chen, Aining Sun, Yanming Zhang, Depei Wu, and Ying Wang. Efficacy of venetoclax combined with hypomethylating agents in young, and unfit patients with newly diagnosed core binding factor acute myeloid leukemia. Blood Cancer Journal, Oct 2023. URL: https://doi.org/10.1038/s41408-023-00928-1, doi:10.1038/s41408-023-00928-1. This article has 32 citations and is from a domain leading peer-reviewed journal.
(day2024proteogenomicanalysisreveals pages 18-18): Ryan B. Day, Julia A. Hickman, Ziheng Xu, Casey D.S. Katerndahl, Francesca Ferraro, Sai Mukund Ramakrishnan, Petra Erdmann-Gilmore, Robert W. Sprung, Yiling Mi, R. Reid Townsend, Christopher A. Miller, and Timothy J. Ley. Proteogenomic analysis reveals cytoplasmic sequestration of runx1 by the acute myeloid leukemia–initiating cbfb::myh11 oncofusion protein. Journal of Clinical Investigation, Dec 2024. URL: https://doi.org/10.1172/jci176311, doi:10.1172/jci176311. This article has 14 citations and is from a highest quality peer-reviewed journal.
(kanellou2023deregulatedgeneexpression pages 16-17): Peggy Kanellou, Ilias Georgakopoulos-Soares, and Apostolos Zaravinos. Deregulated gene expression profiles and regulatory networks in adult and pediatric runx1/runx1t1-positive aml patients. Cancers, 15:1795, Mar 2023. URL: https://doi.org/10.3390/cancers15061795, doi:10.3390/cancers15061795. This article has 9 citations.