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ORPHA:319480

Acute myeloid leukemia with CEBPA somatic mutations

high confidenceDisorder

Also known as: AML with CEBPA somatic mutations

Publications

74

44.5th percentile

Trials

0

Interventional, condition-specific

Researchers

528

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, ).

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (7)

AML with mutated CEBPA · 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 · non-familial acute myeloid leukaemia with mutated CEBPA · non-familial acute myeloid leukemia with mutated CEBPA

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

2/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    74 matched papers (31 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 2464 for broader category acute myeloid leukemia

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

74

74 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

74 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

31 in the last 10 years · high confidence · 44.5th percentile (publications denominator)

Phrase hits: 74 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

528

Distinct author names in 74 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    DiNardo CD4 papers · 2019

    Department of Leukemia, University of Texas MD Anderson Cancer Center, Houston, TX. Electronic address: cdinardo@mdanderson.org.

    Papers in Europe PMC
  2. 02
    Godley LA4 papers · 2016

    Section of Hematology/Oncology, Department of Medicine, Comprehensive Cancer Research Center, University of Chicago, Chicago, IL.

    Papers in Europe PMC
  3. 03
    Churpek JE3 papers · 2016

    Section of Hematology/Oncology, Department of Medicine, Comprehensive Cancer Research Center, University of Chicago, Chicago, IL.

    Papers in Europe PMC
  4. 04
    Cortes JE3 papers · 2018

    Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX.

    Papers in Europe PMC
  5. 05
    Haferlach T3 papers · 2023

    MLL Munich Leukemia Laboratory, Munich, Germany

    Papers in Europe PMC
  6. 06
    Kantarjian HM3 papers · 2018

    Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX.

    Papers in Europe PMC
  7. 07
    Kolb EA3 papers · 2025

    Nemours Center for Cancer and Blood Disorders, Alfred I. duPont Hospital for Children , Wilmington, DE , USA.

    Papers in Europe PMC
  8. 08
    Larson RA3 papers · 2014
    Papers in Europe PMC
  9. 09
    Schlenk RF3 papers · 2017

    Department of Internal Medicine III, University Hospital of Ulm, Albert-Einstein-Allee 23, 89081, Ulm, Germany. richard.schlenk@uniklinik-ulm.de.

    Papers in Europe PMC
  10. 10
    Alonzo T2 papers · 2025

    University of Southern California Keck School of Med, Los Angeles, CA, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 2,464 trials are registered for acute myeloid leukemia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

2,464 interventional trials matched acute myeloid leukemia, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: acute myeloid leukemia

2,464

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Acute myeloid leukemia with CEBPA somatic mutations" OR "AML with CEBPA somatic mutations" OR "AML with mutated CEBPA" OR "acute myeloid Leukaemia with mutated CEBPA" OR "acute myeloid Leukaemia with non-germline mutated CEBPA" OR "acute myeloid Leukemia with mutated CEBPA" OR "acute myeloid Leukemia with non-germline mutated CEBPA" OR "non-familial acute myeloid leukaemia with mutated CEBPA" OR "non-familial acute myeloid leukemia with mutated CEBPA"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Acute myeloid leukemia with CEBPA somatic mutations" OR "AML with CEBPA somatic mutations" OR "AML with mutated CEBPA" OR "acute myeloid Leukaemia with mutated CEBPA" OR "acute myeloid Leukaemia with non-germline mutated CEBPA" OR "acute myeloid Leukemia with mutated CEBPA" OR "acute myeloid Leukemia with non-germline mutated CEBPA" OR "non-familial acute myeloid leukaemia with mutated CEBPA" OR "non-familial acute myeloid leukemia with mutated CEBPA"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"acute myeloid leukemia"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T13:27:46.955Z