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 found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
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.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
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=3967) is 59.
2,829 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).
1,338 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 11 September 2026
74 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
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.
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 6 · after dedupe 6 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 6 · dropped 0 · fetched 2026-07-29
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 (6)
- isrctn·ISRCTN18332222·No longer recruiting·A phase II multicentre study to assess the tolerability and efficacy of the addition of bevacizumab to standard induction therapy in Acute Myeloid Leukaemia and high risk myelodysplastic syndrome above 60 years
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN70542454·No longer recruiting·Reduced intensity chemotherapy given with and without imatinib mesylate in patients >/= 60 years considered unfit for standard chemotherapy with previously untreated acute myeloid leukemia (AML) and refractory anemia with excess of blasts (RAEB), refractory anemia with excess blasts in transformation (RAEB-T): a randomized phase II study
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN77039377·No longer recruiting·Randomised induction and post induction therapy in older patients (greater than or equal to 61 years of age) with Acute Myelocytic Leukaemia (AML) and Refractory Anaemia with Excess of Blasts (RAEB, RAEB-t)
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN38648181·No longer recruiting·Randomised induction and post-induction therapy in adult patients (less than or equal to 60 years of age) with acute myelocytic leukaemia (AML) or refractory anaemia with excess of blasts (RAEB, RAEB-t) with IPSS score greater than or equal to 1.5
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN76815071·No longer recruiting·Risk adapted treatment of Acute Myelocytic Leukaemia (AML)
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN11571826·No longer recruiting·An open label randomised controlled study in elderly subjects with previously untreated acute myelogenous leukaemia, comparing treatment groups randomised to receive daunorubicin and cytarabine or daunorubicin, cytarabine and PSC-833
skipped — LLM skipped (--skip-llm)
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 megakaryoblastic leukemia — check Associations / patient organisations on that page.
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