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ORPHA:98834

Acute myeloblastic leukemia with maturation

low confidenceDisorder

Also known as: AML M2 · Acute myeloblastic leukemia M2

Publications

2,826

Trials

73

Interventional, condition-specific

Researchers

1,396

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare, acute myeloid leukemia characterized by evidence of granulocytic maturation and more than 20% of blast cells in the bone marrow and/or peripheral blood. The maturing non-blast granulocytic cells account for greater than or equal to 10% and monocytic cells less than or equal to 20% of the bone marrow cells. Various degrees of anemia, thrombocytopenia, or pancytopenia are present. Frequent clinical manifestations include fatigue, fever, bleeding disorders, and organomegaly, especially .

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 (30)

AML with maturation · FAB M2 · M2 acute granulocytic leukaemia · M2 acute granulocytic leukemia · M2 acute myeloblastic leukaemia · M2 acute myeloblastic leukaemia with maturation · M2 acute myeloblastic leukemia · M2 acute myeloblastic leukemia with maturation · M2 acute myelocytic leukaemia with maturation · M2 acute myelocytic leukemia with maturation · M2 acute myelogenous leukaemia · M2 acute myelogenous leukaemia with maturation · M2 acute myelogenous leukemia · M2 acute myelogenous leukemia with maturation · M2 acute myeloid leukaemia · M2 acute myeloid leukaemia with maturation · M2 acute myeloid leukemia · M2 acute myeloid leukemia with maturation · acute M2 myeloid leukaemia · acute M2 myeloid leukemia · acute myeloblastic leukaemia M2 · acute myeloblastic leukemia M2 · acute myelocytic leukaemia with maturation · acute myelocytic leukemia with maturation · acute myelogenous leukaemia with maturation · acute myelogenous leukemia with maturation · acute myeloid leukaemia (AML-M2) · acute myeloid leukaemia with maturation · acute myeloid leukemia (AML-M2) · acute myeloid leukemia with maturation

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

    2,826 matched papers (1,234 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    73 matched on ClinicalTrials.gov

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)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,826

2,826 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=3967) is 59.

2,826 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,234 in the last 10 years · low confidence

Phrase hits: 2,826 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,396

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
    Li Y7 papers · 2025

    Department of Pathology, Duke University School of Medicine, Durham, NC, USA.

    Papers in Europe PMC
  2. 02
    Wang H6 papers · 2026

    Hematological Malignancy Treatment Center, Sheng Jing Hospital, China Medical University, Shen Yang, Liao Ning, 110022, China.

    Papers in Europe PMC
  3. 03
    Wang L5 papers · 2025

    Department of Hematology, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China.

    Papers in Europe PMC
  4. 04
    Wang Y5 papers · 2026

    Department of Pathology, Albert Einstein College of Medicine/Montefiore Medical Center, Bronx, NY, USA.

    Papers in Europe PMC
  5. 05
    Chen J4 papers · 2025

    Department of Clinical Skills Training Center, Clinical Academic Affairs Office, The First Hospital of Lanzhou University, Lanzhou, China.

    Papers in Europe PMC
  6. 06
    Huang J4 papers · 2024

    Department of Hematology, The First Affiliated Hospital, College of Medicine, Zhejiang University Hangzhou Zhejiang, People's Republic of China.

    Papers in Europe PMC
  7. 07
    Huang Y4 papers · 2025

    Department of Diagnostic Laboratory， The Second Hospital of Shanxi Medical University, Taiyuan 030001， Shanxi Province, China.

    Papers in Europe PMC
  8. 08
    Jin J4 papers · 2024

    Department of Hematology, The First Affiliated Hospital, College of Medicine, Zhejiang University Hangzhou Zhejiang, People's Republic of China.

    Papers in Europe PMC
  9. 09
    Suzuki S4 papers · 2024

    Division of Laboratory Medicine, Faculty of Medicine, Tohoku Medical and Pharmaceutical University, Sendai, Japan.

    Papers in Europe PMC
  10. 10
    Wang W4 papers · 2026

    Department of Biostatistics, St. Jude Children's Research Hospital.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

73

interventional trials for this specific condition

73 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026

73 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 98.1th percentile).

low confidence · 98.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 21 · after dedupe 21 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 21 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (21)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Acute myeloblastic leukemia with maturation — check Associations / patient organisations on that page.

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 myeloblastic leukemia with maturation" OR "AML M2" OR "Acute myeloblastic leukemia M2" OR "AML with maturation" OR "FAB M2" OR "M2 acute granulocytic leukaemia" OR "M2 acute granulocytic leukemia" OR "M2 acute myeloblastic leukaemia" OR "M2 acute myeloblastic leukaemia with maturation" OR "M2 acute myeloblastic leukemia" OR "M2 acute myeloblastic leukemia with maturation" OR "M2 acute myelocytic leukaemia with maturation" OR "M2 acute myelocytic leukemia with maturation" OR "M2 acute myelogenous leukaemia" OR "M2 acute myelogenous leukaemia with maturation" OR "M2 acute myelogenous leukemia" OR "M2 acute myelogenous leukemia with maturation" OR "M2 acute myeloid leukaemia" OR "M2 acute myeloid leukaemia with maturation" OR "M2 acute myeloid leukemia" OR "M2 acute myeloid leukemia with maturation" OR "acute M2 myeloid leukaemia" OR "acute M2 myeloid leukemia" OR "acute myeloblastic leukaemia M2" OR "acute myelocytic leukaemia with maturation" OR "acute myelocytic leukemia with maturation" OR "acute myelogenous leukaemia with maturation" OR "acute myelogenous leukemia with maturation" OR "acute myeloid leukaemia (AML-M2)" OR "acute myeloid leukaemia with maturation" OR "acute myeloid leukemia (AML-M2)" OR "acute myeloid leukemia with maturation"

Run this search on Europe PMC

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

"Acute myeloblastic leukemia with maturation" OR "AML M2" OR "Acute myeloblastic leukemia M2" OR "AML with maturation" OR "FAB M2" OR "M2 acute granulocytic leukaemia" OR "M2 acute granulocytic leukemia" OR "M2 acute myeloblastic leukaemia" OR "M2 acute myeloblastic leukaemia with maturation" OR "M2 acute myeloblastic leukemia" OR "M2 acute myeloblastic leukemia with maturation" OR "M2 acute myelocytic leukaemia with maturation" OR "M2 acute myelocytic leukemia with maturation" OR "M2 acute myelogenous leukaemia" OR "M2 acute myelogenous leukaemia with maturation" OR "M2 acute myelogenous leukemia" OR "M2 acute myelogenous leukemia with maturation" OR "M2 acute myeloid leukaemia" OR "M2 acute myeloid leukaemia with maturation" OR "M2 acute myeloid leukemia" OR "M2 acute myeloid leukemia with maturation" OR "acute M2 myeloid leukaemia" OR "acute M2 myeloid leukemia" OR "acute myeloblastic leukaemia M2" OR "acute myelocytic leukaemia with maturation" OR "acute myelocytic leukemia with maturation" OR "acute myelogenous leukaemia with maturation" OR "acute myelogenous leukemia with maturation" OR "acute myeloid leukaemia (AML-M2)" OR "acute myeloid leukaemia with maturation" OR "acute myeloid leukemia (AML-M2)" OR "acute myeloid leukemia with maturation"

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: 73 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

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
  • Publication count (2826) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T05:31:20.164Z