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ORPHA:293199

Pleomorphic rhabdomyosarcoma

low confidenceSubtype of disorder

Publications

878

Trials

11

Interventional, condition-specific

Researchers

1,420

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare soft tissue sarcoma characterized by a high-grade lesion occurring almost exclusively in adults, composed of bizarre polygonal, round, and spindle cells with evidence of skeletal muscle differentiation. Patients usually present with a rapidly growing, painful mass located in the deep soft tissues of the extremities, but also other anatomic regions. 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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

pleomorphic rhabdomyosarcoma

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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    878 matched papers (505 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    11 matched on ClinicalTrials.gov (4 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?

878

878 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.

878 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).

505 in the last 10 years · low confidence

Phrase hits: 878 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,420

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.

  1. 01
    Blay JY5 papers · 2026

    Cancer Medicine Department, Centre Léon Bérard, Lyon, France. Electronic address: https://twitter.com/jeanyvesblay.

    Papers in Europe PMC
  2. 02
    Lazar AJ5 papers · 2026

    Department of Pathology, University of Texas MD Anderson Cancer Center, Houston, TX, USA.

    Papers in Europe PMC
  3. 03
    Bae S4 papers · 2026

    Nephrology, Private Office, Flushing, USA.

    Papers in Europe PMC
  4. 04
    Dermawan JK4 papers · 2026

    Department of Pathology and Laboratory Medicine, Cleveland Clinic, Cleveland, OH, 44195, USA. dermawj@ccf.org.

    Papers in Europe PMC
  5. 05
    Gronchi A4 papers · 2026

    Department of Surgery, Fondazione IRCCS Istituto Nazionale Dei Tumori, Milan, Italy.

    Papers in Europe PMC
  6. 06
    Liu J4 papers · 2024

    Department of Pathology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

    Papers in Europe PMC
  7. 07
    Sakamoto A4 papers · 2025

    Department of Orthopaedic Surgery, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

    Papers in Europe PMC
  8. 08
    Valentin T4 papers · 2025

    Department of Oncology, Toulouse Cancer Center (IUCT - Oncopole), France; OncoSarc, INSERM U1037, Toulouse Cancer Research Center (CRCT), France.

    Papers in Europe PMC
  9. 09
    Wang S4 papers · 2026

    Department of Pathology, School of Basic Medical Sciences, Suzhou Medical College, Soochow University, Suzhou, Jiangsu, China. wangshouli@suda.edu.cn.

    Papers in Europe PMC
  10. 10
    Zhang J4 papers · 2025

    Department of Pathology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

11

interventional trials for this specific condition

11 interventional trials matched this specific condition name; 4 currently recruiting in our sample. 201 trials are registered for rhabdomyosarcoma, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

11 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 92.1th percentile).

low confidence · 92.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

11 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: rhabdomyosarcoma

201

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

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 2026-07-26

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.

"Pleomorphic rhabdomyosarcoma"

Run this search on Europe PMC

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

"Pleomorphic rhabdomyosarcoma"

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: 11 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"rhabdomyosarcoma"

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

Ingested 2026-07-27T12:20:19.755Z