ORPHA:518
Acute megakaryoblastic leukemia
Also known as: AMKL · AML M7 · Acute megakaryocytic leukemia · Acute myeloid leukemia M7
Publications
2,829
Trials
74
Interventional, condition-specific
Researchers
1,378
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare acute myeloid leukemia that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, , neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018872
- MeSH:D007947
- UMLS:C0023462
- NCIT:C3170
Additional Mondo synonyms (14)
FAB M7 · acute M7 myeloid leukaemia · acute M7 myeloid leukemia · acute megakaryoblastic leukaemia (FAB type M7) · acute megakaryoblastic leukemia · acute megakaryoblastic leukemia (FAB type M7) · acute megakaryoblastic leukemia, FAB M7 · acute megakaryocytic leukaemia · acute megakaryocytic leukemia · acute megakaryocytic leukemias · acute myeloid leukaemia M7 · acute myeloid leukemia M7 · leukemia, megakaryocytic, malignant · thrombocytic 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.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
2,829 matched papers (1,338 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
74 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)
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?
2,829
2,829 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.
2,829 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).
1,338 in the last 10 years · low confidence
Phrase hits: 2,829 · MeSH hits: 0
Who's working on it?
1,378
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.
- 01Chen X8 papers · 2026
The Affiliated Wuxi People's Hospital of Nanjing Medical University, Wuxi Children's Hospital, Wuxi, 214023, China.
Papers in Europe PMC - 02Wang H8 papers · 2026
Cancer Center, Department of Hematology, Zhejiang Provincial People's Hospital (Affiliated People's Hospital, Hangzhou Medical College), Hangzhou, Zhejiang, 310014, People's Republic of China.
Papers in Europe PMC - 03Chen Y6 papers · 2026
Cancer Center, Department of Pathology, Zhejiang Provincial People's Hospital (Affiliated People's Hospital, Hangzhou Medical College), Hangzhou, Zhejiang, 310014, People's Republic of China.
Papers in Europe PMC - 04Zhang L6 papers · 2026
Department of Hematology, Institute of Hematology, Henan Provincial People's Hospital, Zhengzhou, Henan, PR China.
Papers in Europe PMC - 05Zhao X6 papers · 2026
Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Papers in Europe PMC - 06Chen M5 papers · 2026
Department of Laboratory Medicine, Yale University, New Haven, CT.
Papers in Europe PMC - 07Gruber TA5 papers · 2026
Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA. tagruber@stanford.edu.
Papers in Europe PMC - 08Li Y5 papers · 2026
Department of Clinical Laboratory, Sichuan Clinical Research Center for Cancer, Sichuan Cancer Hospital & Institute, Sichuan Cancer Center, Affiliated Cancer Hospital of University of Electronic Science and Technology of China, Chengdu, 610041, China.
Papers in Europe PMC - 09Luo M5 papers · 2025
Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Papers in Europe PMC - 10Wang Y5 papers · 2025
Division/Center of Hematology-Oncology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, 310005, China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
74
interventional trials for this specific condition
74 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
74 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 98th percentile).
low confidence · 98th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
74 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
4 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.
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 2026-07-26This 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 megakaryoblastic leukemia" OR "AML M7" OR "Acute megakaryocytic leukemia" OR "Acute myeloid leukemia M7" OR "FAB M7" OR "acute M7 myeloid leukaemia" OR "acute M7 myeloid leukemia" OR "acute megakaryoblastic leukaemia (FAB type M7)" OR "acute megakaryoblastic leukemia (FAB type M7)" OR "acute megakaryoblastic leukemia, FAB M7" OR "acute megakaryocytic leukaemia" OR "acute megakaryocytic leukemias" OR "acute myeloid leukaemia M7" OR "leukemia, megakaryocytic, malignant" OR "thrombocytic leukemia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Acute megakaryoblastic leukemia" OR "AML M7" OR "Acute megakaryocytic leukemia" OR "Acute myeloid leukemia M7" OR "FAB M7" OR "acute M7 myeloid leukaemia" OR "acute M7 myeloid leukemia" OR "acute megakaryoblastic leukaemia (FAB type M7)" OR "acute megakaryoblastic leukemia (FAB type M7)" OR "acute megakaryoblastic leukemia, FAB M7" OR "acute megakaryocytic leukaemia" OR "acute megakaryocytic leukemias" OR "acute myeloid leukaemia M7" OR "leukemia, megakaryocytic, malignant" OR "thrombocytic leukemia"
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: 74 interventional · 4 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
Synonyms dropped by stoplist: AMKL
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 (2829) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T14:08:55.911Z