ORPHA:566393
Acute mast cell leukemia
Also known as: Acute MCL
Publications
141
67.8th percentile
Trials
0
Interventional, condition-specific
Researchers
864
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare systemic mastocytosis characterized by the presence of at least 20% usually immature and atypical mast cells in bone marrow aspirate smears. In classic mast cell leukemia, mast cells account for at least 10% of peripheral white blood cells, although the aleukemic variant with less than 10% mast cells is more common. C-findings (cytopenias, , ascites, portal hypertension, , skeletal lesions, malabsorption), indicative of organ damage due to mast cell infiltration, are usually present at diagnosis, while skin lesions are absent in most cases. Prognosis is generally poor.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0035444
- UMLS:C5680128
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
141 matched papers (108 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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?
141
141 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=5449) is 41.
141 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).
108 in the last 10 years · high confidence · 67.8th percentile (publications denominator)
Phrase hits: 141 · MeSH hits: 0
Who's working on it?
864
Distinct author names in 141 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Arock M15 papers · 2023
LBPA CNRS UMR8113, Ecole Normale Supérieure de Cachan, Cachan, France.
Papers in Europe PMC - 02Valent P14 papers · 2023
Department of Medicine I, Division of Hematology and Ludwig Boltzmann Cluster Oncology, Medical University of Vienna, Vienna, Austria. peter.valent@meduniwien.ac.at.
Papers in Europe PMC - 03Sperr WR10 papers · 2023
Department of Medicine I, Division of Hematology and Ludwig Boltzmann Cluster Oncology, Medical University of Vienna, Vienna, Austria.
Papers in Europe PMC - 04Hermine O8 papers · 2023
Imagine Institute Université Paris Descartes, Sorbonne, Paris Cité, Centre National de Référence des Mastocytoses, Paris, France.
Papers in Europe PMC - 05Reiter A8 papers · 2023
Department of Hematology and Oncology, University Hospital Mannheim, Heidelberg University, Mannheim, Germany.
Papers in Europe PMC - 06Gotlib J7 papers · 2023
Division of Hematology, Stanford Cancer Institute, Stanford University School of Medicine, Stanford, California.
Papers in Europe PMC - 07Horny HP7 papers · 2021
Institute of Pathology, Ludwig-Maximilians-University, Munich, Germany.
Papers in Europe PMC - 08Akin C6 papers · 2021
Division of Allergy and Immunology, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
Papers in Europe PMC - 09Hartmann K6 papers · 2023
Department of Dermatology, University of Luebeck, Luebeck, Germany.
Papers in Europe PMC - 10Triggiani M6 papers · 2023
Division of Allergy and Clinical Immunology, University of Salerno, Salerno, Italy.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 mast cell leukemia" OR "Acute MCL"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Acute mast cell leukemia" OR "Acute MCL"
Study-type breakdown: 0 interventional · 0 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
Ingested 2026-07-27T18:26:41.234Z