RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:66661

Mast cell sarcoma

low confidenceDisorder

Publications

2,417

Trials

0

Interventional, condition-specific

Researchers

1,204

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Mast cell sarcoma is a rare, neoplastic disease characterized by locally destructive sarcoma-like growth of a solitary mass, composed of atypical mast cells, and without systemic involvement. It can affect any organ and the symptoms depend on the location. Cells are medium to large, pleomorphic or epithelioid, with oval, bilobed or multilobulated nuclei, sometimes prominent multinucleated giant cells. The disease closely resembles other neoplasms and may share associated markers, however the tumor is positive for mast cell tryptase.

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (4)

MCS · mast cell sarcoma · mast-cell sarcoma · sarcoma of mast cell

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.”

3/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    2,417 matched papers (257 in last 10 years) Source

  3. Phenotype characterisedPresent

    9 HPO annotations (e.g. Lymphadenopathy; Sarcoma; Mastocytosis) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPartial

    None under the specific name; 1681 for broader category sarcoma

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)

9

Associated phenotypes · MONDO:0019024

  • Lymphadenopathy
  • Sarcoma
  • Mastocytosis
  • Mediastinal lymphadenopathy
  • Splenomegaly

Showing 5 of 9 — open Monarch for the full list.

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

1

Drugs / clinical candidates · MONDO_0019024

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,417

2,417 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.

2,417 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).

257 in the last 10 years · low confidence

Phrase hits: 2,417 · MeSH hits: 43

Open Europe PMC search

Who's working on it?

1,204

Distinct author names in 200 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.

  1. 01
    Hermine O9 papers · 2025

    Imagine Institute Université de Paris, Sorbonne, Institut national de la santé et de la recherche médicale U1163, Centre national de référence des mastocytoses, Hôpital Necker, Assistance publique hôpitaux de Paris, France.

    Papers in Europe PMC
  2. 02
    Valent P9 papers · 2026

    Division of Hematology and Hemostaseology, Department of Internal Medicine I, Medical University of Vienna, Austria.

    Papers in Europe PMC
  3. 03
    Arock M8 papers · 2026

    Department of Hematological Biology, Pitié-Salpêtrière Hospital, Pierre et Marie Curie University (UPMC), Paris, France.

    Papers in Europe PMC
  4. 04
    Akin C7 papers · 2026

    Division of Allergy and Clinical Immunology, University of Michigan, Ann Arbor, Michigan, USA.

    Papers in Europe PMC
  5. 05
    Horny HP7 papers · 2025

    Institute of Pathology, Paracelsus Medical University Salzburg, Austria.

    Papers in Europe PMC
  6. 06
    Sperr WR6 papers · 2026

    Division of Hematology and Hemostaseology, Department of Internal Medicine I, Medical University of Vienna, Austria.

    Papers in Europe PMC
  7. 07
    Orfao A5 papers · 2026

    Servicio Central de Citometria, Centro de Investigacion del Cancer (IBMCC; CSIC/USAL) Instituto Biosanitario de Salamanca (IBSAL) and Department of Medicine, University of Salamanca, Spain.

    Papers in Europe PMC
  8. 08
    Reiter A5 papers · 2024

    Department of Hematology and Oncology, University Hospital Mannheim, Germany.

    Papers in Europe PMC
  9. 09
    George TI4 papers · 2025

    Department of Pathology, University of Utah, Salt Lake City, Utah, USA.

    Papers in Europe PMC
  10. 10
    Hartmann K4 papers · 2026

    Division of Allergy, Department of Dermatology, University Hospital Basel and University of Basel, Switzerland.

    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). 1,681 trials are registered for sarcoma, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 26 October 2026 · last trial check 26 October 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5498 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

1,681 interventional trials matched sarcoma, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: sarcoma

1,681

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Mast cell sarcoma — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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 sarcoma" OR "mast-cell sarcoma" OR "sarcoma of mast cell" OR "sarcoma of the mast cell"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Mast-Cell Sarcoma

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Mast cell sarcoma" OR "mast-cell sarcoma" OR "sarcoma of mast cell" OR "sarcoma of the mast cell"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"sarcoma"

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: MCS

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 (2417) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T01:23:14.393Z