ORPHA:86845
Acute myeloid leukaemia with myelodysplasia-related features
Also known as: AML with multilineage dysplasia · AML with myelodysplasia-related features · Acute myeloid leukemia with multilineage dysplasia
Publications
265
58.5th percentile
Trials
27
Interventional, condition-specific
Researchers
1,634
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare acute myeloid leukemia (AML) characterized by the presence of acute leukemia with at least 20% peripheral blood or bone marrow blasts with morphological features of myelodysplasia, or occurrence in patients with a prior history of a myelodysplastic syndrome (MDS) or myelodysplastic/myeloproliferative neoplasm, with MDS-related cytogenetic abnormalities, in the absence of specific genetic abnormalities characteristic of AML with recurrent genetic abnormalities. Prior cytotoxic or radiation therapy for an unrelated disease must be excluded. The condition occurs mainly in elderly patients and is rare in children. Patients often present with severe pancytopenia. 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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019456
- UMLS:C1292773
- NCIT:C9289
Additional Mondo synonyms (2)
De novo acute myeloid leukaemia with multilineage dysplasia · De novo acute myeloid leukemia with multilineage dysplasia
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
265 matched papers (110 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
27 matched on ClinicalTrials.gov (1 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)
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?
265
265 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=3967) is 59.
265 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).
110 in the last 10 years · medium confidence · 58.5th percentile (publications denominator)
Phrase hits: 265 · MeSH hits: 0
Who's working on it?
1,634
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.
- 01Sekeres MA6 papers · 2020
Leukemia Program, Cleveland Clinic, Cleveland, OH, USA.
Papers in Europe PMC - 02Appelbaum FR5 papers · 2014Papers in Europe PMC
- 03Arber DA5 papers · 2020
Department of Pathology, Stanford University Medical Center, Stanford, CA, USA.
Papers in Europe PMC - 04Bhatt VR5 papers · 2020
Division of Oncology and Hematology, Department of Internal Medicine, University of Nebraska Medical Center, Omaha, NE; Fred and Pamela Buffett Cancer Center, University of Nebraska Medical Center, Omaha, NE.
Papers in Europe PMC - 05Bolkun L4 papers · 2023
Department of Haematology, Medical University of Bialystok, 24a Sklodowskiej-Curie, Bialystok, 15-276, Poland, lbolkun@gmail.com.
Papers in Europe PMC - 06
- 07Deeg HJ4 papers · 2008Papers in Europe PMC
- 08Falini B4 papers · 2024
Section of Hematology and Clinical Immunology, Department of Medicine, University of Perugia, Perugia, Italy; and.
Papers in Europe PMC - 09Germing U4 papers · 2025
Department of Hematology, Oncology and Clinical Immunology, Heinrich-Heine-University Duesseldorf, Duesseldorf, Germany.
Papers in Europe PMC - 10Miyazaki Y4 papers · 2024
Department of Hematology, Atomic Bomb Disease Institute, Nagasaki University School of Medicine, Nagasaki, Japan.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
27
interventional trials for this specific condition
27 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 11 September 2026
27 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 95.7th percentile).
medium confidence · 95.7th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
27 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT04869683·RECRUITING·Biocollection in MyeloDysplastic Syndrome (P-MDS)
Not reviewed·Conditions: Myelodysplastic Syndromes · Myelodysplastic Anemia · Myelodysplastic Syndrome With Isolated Del(5Q) · Myelodysplastic Syndrome With Ring Sideroblasts·Matched via name phrase
Observational and natural-history studies
1 observational study matches 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.
Recruiting or not-yet-recruiting
- NCT01210274·RECRUITING·Characterization of the Mechanisms of Resistance to Azacitidine
Not reviewed·Conditions: Myelodysplastic Syndromes or Acute Myeloid Leukemia With Multilineage Dysplasia·Matched via name phrase
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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (1)
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 myeloid leukaemia with myelodysplasia-related features — 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 myeloid leukaemia with myelodysplasia-related features" OR "AML with multilineage dysplasia" OR "AML with myelodysplasia-related features" OR "Acute myeloid leukemia with multilineage dysplasia" OR "De novo acute myeloid leukaemia with multilineage dysplasia" OR "De novo acute myeloid leukemia with multilineage dysplasia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Acute myeloid leukaemia with myelodysplasia-related features" OR "AML with multilineage dysplasia" OR "AML with myelodysplasia-related features" OR "Acute myeloid leukemia with multilineage dysplasia" OR "De novo acute myeloid leukaemia with multilineage dysplasia" OR "De novo acute myeloid leukemia with multilineage dysplasia"
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: 27 interventional · 1 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 (265) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T03:11:43.996Z