ORPHA:98851
Mast cell leukemia
Publications
1,368
Trials
20
Interventional, condition-specific
Researchers
1,191
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A very rare malignant systemic mastocytosis (SM) characterized by a huge infiltration of bone marrow, and often of blood, by abnormal mast cells (MC) which frequently manifests with organ dysfunction (liver, spleen, peritoneum, bones, and marrow).
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:0020334
- MeSH:D007946
- UMLS:C0023461
- NCIT:C3169
Additional Mondo synonyms (5)
Mast cell leukaemia · aleukemic mast cell leukaemia · aleukemic mast cell leukemia · mast-cell leukaemia · mast-cell 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
1,368 matched papers (732 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
20 matched on ClinicalTrials.gov (2 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)
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?
1,368
1,368 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.
1,368 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).
732 in the last 10 years · low confidence
Phrase hits: 1,367 · MeSH hits: 2
Who's working on it?
1,191
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.
- 01Reiter A11 papers · 2026
Department of Hematology and Oncology, University Hospital Mannheim, Heidelberg University, Mannheim, Germany.
Papers in Europe PMC - 02Valent P11 papers · 2026
Department of Internal Medicine I, Division of Hematology and Hemostaseology, Medical University of Vienna, Vienna, Austria; Ludwig Boltzmann Institute for Hematology and Oncology, Medical University of Vienna, Vienna, Austria. Electronic address: peter.valent@meduniwien.ac.at.
Papers in Europe PMC - 03Arock M10 papers · 2026
Biological Haematology Department, Pitié-Salpêtrière Hospital, Paris, France.
Papers in Europe PMC - 04Hermine O10 papers · 2026
French Reference Center for Mastocytosis (CEREMAST), Paris Cité University, Necker-Enfants Malades University Hospital, AP-HP, Paris, France.
Papers in Europe PMC - 05Pardanani A10 papers · 2026
Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, Minnesota.
Papers in Europe PMC - 06Rossignol J9 papers · 2026
French Reference Center for Mastocytosis (CEREMAST), Paris Cité University, Necker-Enfants Malades University Hospital, AP-HP, Paris, France.
Papers in Europe PMC - 07Chen D7 papers · 2026
Department of Hematology, Xi'an International Medical Center, No. 777 Xitai Road, Gaoxin District, Xi'an, 710100, China.
Papers in Europe PMC - 08Gotlib J7 papers · 2026
Division of Hematology, Department of Medicine, Stanford University School of Medicine, Stanford, California, USA.
Papers in Europe PMC - 09Orazi A7 papers · 2025
Division of Hematopathology, Texas Tech University Health Sciences Center, El Paso, Texas, USA.
Papers in Europe PMC - 10Panse J7 papers · 2024
Department of Hematology, Hemostaseology, Oncology and Stem Cell Transplantation, University Hospital RWTH Aachen, Aachen, Germany.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
20
interventional trials for this specific condition
20 interventional trials matched this specific condition name; 2 currently recruiting in our sample.
Data as of 27 July 2026
20 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 94.5th percentile).
low confidence · 94.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
20 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT04996875·RECRUITING·(Apex) Bezuclastinib in Patients With Advanced Systemic Mastocytosis
Conditions: Advanced Systemic Mastocytosis (AdvSM) · SM With an Associated Hematologic Neoplasm (SM-AHN) · Mast Cell Leukemia (MCL) · Aggressive Systemic Mastocytosis (ASM)·Matched via name phrase
- NCT03779854·RECRUITING·Naive T Cell Depletion for Preventing Chronic Graft-versus-Host Disease in Children and Young Adults With Blood Cancers Undergoing Donor Stem Cell Transplant
Conditions: Acute Biphenotypic Leukemia · Acute Leukemia · Acute Leukemia of Ambiguous Lineage · Acute Lymphoblastic Leukemia·Matched via name phrase
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.
"Mast cell leukemia" OR "Mast cell leukaemia" OR "aleukemic mast cell leukaemia" OR "aleukemic mast cell leukemia" OR "mast-cell leukaemia" OR "mast-cell leukemia"
MeSH descriptor terms unioned into the query: Leukemia, Mast-Cell
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Mast cell leukemia" OR "Mast cell leukaemia" OR "aleukemic mast cell leukaemia" OR "aleukemic mast cell leukemia" OR "mast-cell leukaemia" OR "mast-cell leukemia" OR "Leukemia, Mast-Cell"
Interventional trials matched via: both, phrase, mesh (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 20 interventional · 4 observational · 1 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
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 (1368) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T05:35:34.372Z