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ORPHA:98824

Atypical chronic myeloid leukemia

low confidenceDisorder

Also known as: Subacute myeloid leukemia

Publications

1,561

Trials

37

Interventional, condition-specific

Researchers

1,242

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare myelodysplastic/myeloproliferative neoplasm characterized by peripheral blood leukocytosis due to increased numbers of morphologically dysplastic neutrophils and their precursors, hypercellular bone marrow with granulocytic proliferation and (with or without in the erythroid and megakaryocytic lineages), and prominent dysgranulopoiesis, but no or minimal absolute basophilia or monocytosis. Blasts account for less than 20% of leukocytes in the blood and bone marrow. BCR-ABL1 fusion is absent, as well as PDGFRA, PDGFRB or FGFR1 rearrangement, or PCM1-JAK2. Patients may present with signs and symptoms related to , anemia, or thrombocytopenia. Prognosis is generally poor.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (11)

aCML · atypical CML · atypical chronic myeloid leukaemia · atypical chronic myeloid leukemia · atypical chronic myeloid leukemia, BCR-ABL1 Negative · subacute granulocytic leukaemia · subacute granulocytic leukemia · subacute myelogenous leukaemia · subacute myelogenous leukemia · subacute myeloid leukaemia · subacute myeloid leukemia

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,561 matched papers (880 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 trialPresent

    37 matched on ClinicalTrials.gov (5 recruiting in sample)

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?

1,561

1,561 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

1,561 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).

880 in the last 10 years · low confidence

Phrase hits: 1,561 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,242

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Tefferi A7 papers · 2026

    Division of Hematology, Mayo Clinic, Rochester, Minnesota, USA.

    Papers in Europe PMC
  2. 02
    Breccia M6 papers · 2026

    Hematology, Department of Translational and Precision Medicine, Policlinico Umberto I-Sapienza University, Rome, Italy.

    Papers in Europe PMC
  3. 03
    Orazi A6 papers · 2025

    Department of Pathology, Texas Tech University Health Sciences Center, El Paso, TX, USA. Attilio.Orazi@ttuhsc.edu.

    Papers in Europe PMC
  4. 04
    Arber DA5 papers · 2025

    Department of Pathology, University of Chicago, Chicago, IL, USA.

    Papers in Europe PMC
  5. 05
    Chen S5 papers · 2024

    Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, the First Affiliated Hospital of Soochow University, Soochow University, Suzhou, China.

    Papers in Europe PMC
  6. 06
    Gangat N5 papers · 2026

    Division of Hematology, Mayo Clinic, Rochester, Minnesota, USA.

    Papers in Europe PMC
  7. 07
    Hasserjian RP5 papers · 2025

    Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.

    Papers in Europe PMC
  8. 08
    Liu Y5 papers · 2025

    Center of Molecular Diagnosis and Therapy, The Second Attached Hospital of Fujian Medical University, Quanzhou, China.

    Papers in Europe PMC
  9. 09
    Patnaik MM5 papers · 2025

    Division of Hematology, Mayo Clinic, Rochester, Minnesota, USA.

    Papers in Europe PMC
  10. 10
    Wang Q5 papers · 2024

    Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, 188 Shizi Street, Suzhou 215006, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

37

interventional trials for this specific condition

37 interventional trials matched this specific condition name; 5 currently recruiting in our sample. 2,750 trials are registered for myeloid leukemia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

37 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 96.3th percentile).

low confidence · 96.3th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

37 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: myeloid leukemia

2,750

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

Observational and natural-history studies

2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

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.

"Atypical chronic myeloid leukemia" OR "Subacute myeloid leukemia" OR "atypical CML" OR "atypical chronic myeloid leukaemia" OR "atypical chronic myeloid leukemia, BCR-ABL1 Negative" OR "subacute granulocytic leukaemia" OR "subacute granulocytic leukemia" OR "subacute myelogenous leukaemia" OR "subacute myelogenous leukemia" OR "subacute myeloid leukaemia"

Run this search on Europe PMC

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

"Atypical chronic myeloid leukemia" OR "Subacute myeloid leukemia" OR "atypical CML" OR "atypical chronic myeloid leukaemia" OR "atypical chronic myeloid leukemia, BCR-ABL1 Negative" OR "subacute granulocytic leukaemia" OR "subacute granulocytic leukemia" OR "subacute myelogenous leukaemia" OR "subacute myelogenous leukemia" OR "subacute myeloid leukaemia"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 37 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"myeloid leukemia"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: aCML

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1561) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T05:28:08.126Z