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ORPHA:3273

Synovial sarcoma

low confidenceDisorder

Also known as: Synovialosarcoma

Publications

14,043

Trials

83

Interventional, condition-specific

Researchers

1,363

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare soft tissue sarcoma characterized by palpable, slow-growing, deep-seated swellings, with or without pain or tenderness, affecting mostly children and young adults. Patients may have pain or joint contractures that precede swelling. Contrary to its name, lesions do not originate from intra-articular synovium, but from primitive mesenchymal cells. Majority of the lesions arise in the extremities, predominantly in the lower extremity, however can also occur in the head and neck region, trunk, lungs and pleura. Metastasis to the lungs, bone and regional lymph nodes can be observed. Increasing size, age and tumor grade are reported as negative predictive factors for both local disease recurrence and metastasis.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

sarcoma, synovial, malignant · synovial sarcoma · synovial sarcoma (disease)

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.”

4/6 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

    14,043 matched papers (8,335 in last 10 years) Source

  3. Phenotype characterisedPresent

    1 HPO annotations (e.g. Synovial sarcoma) Source

  4. Animal modelPresent

    3 genotype models (Mus musculus) Source

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    83 matched on ClinicalTrials.gov (16 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)

1

Associated phenotypes · MONDO:0010434

  • Synovial sarcoma

Animal models (Monarch / Alliance)

3

Model associations linked to this Mondo ID

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

48

Drugs / clinical candidates · MONDO_0010434

CTD chemicals (MyDisease.info)

8 associated chemicals · 49 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Cisplatin · therapeutic
  • Doxorubicin · therapeutic
  • Etoposide · therapeutic
  • Ifosfamide · therapeutic
  • JET protocol · therapeutic
  • pirarubicin · therapeutic
  • Streptozocin · therapeutic
  • Vincristine · therapeutic

Pathways: EGFR tyrosine kinase inhibitor resistance; Endocrine resistance; Platinum drug resistance; NF-kappa B signaling pathway; HIF-1 signaling pathway; Sphingolipid signaling pathway; Autophagy - animal; Protein processing in endoplasmic reticulum

MyDisease.info · MONDO:0010434

Literature

Is anyone studying this?

14,043

14,043 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

14,043 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).

8,335 in the last 10 years · low confidence

Phrase hits: 14,043 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,363

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
    Li J9 papers · 2026

    Department of Orthopaedics.

    Papers in Europe PMC
  2. 02
    Jones KB5 papers · 2026

    Department of Orthopaedics.

    Papers in Europe PMC
  3. 03
    Carroll L4 papers · 2026

    Department of Orthopaedics.

    Papers in Europe PMC
  4. 04
    Li L4 papers · 2026

    Department of Orthopaedics.

    Papers in Europe PMC
  5. 05
    Li Y4 papers · 2026

    Department of Oncology, 920th Hospital of Joint Logistics Support Force, Kunming, China.

    Papers in Europe PMC
  6. 06
    Liu X4 papers · 2026

    Department of Radiology, Beijing Xiaotangshan Hospital, Beijing, People's Republic of China.

    Papers in Europe PMC
  7. 07
    Liu Y4 papers · 2026

    Department of Pharmacy, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200233, China.

    Papers in Europe PMC
  8. 08
    Smith-Fry K4 papers · 2026

    Department of Orthopaedics.

    Papers in Europe PMC
  9. 09
    Wang X4 papers · 2026

    Department of Nuclear Medicine (PET-CT Center), National Cancer Center, National Clinical Research Center for Cancer, Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

    Papers in Europe PMC
  10. 10
    Ariizumi T3 papers · 2026

    Division of Orthopedic Surgery, Graduate School of Medical and Dental Sciences, Niigata University, 1-757 Asahimachi-dori, Chuo-ku, Niigata city, Niigata, 951-8510, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

83

interventional trials for this specific condition

83 interventional trials matched this specific condition name; 16 currently recruiting in our sample. 1,579 trials are registered for sarcoma, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

83 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 98.3th percentile).

low confidence · 98.3th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: sarcoma

1,579

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

Observational and natural-history studies

5 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.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 75 · after dedupe 75 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 75 · dropped 0 · fetched 2026-07-29

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 (75)

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 Synovial 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.

"Synovial sarcoma" OR "Synovialosarcoma" OR "sarcoma, synovial, malignant" OR "synovial sarcoma (disease)"

Run this search on Europe PMC

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

"Synovial sarcoma" OR "Synovialosarcoma" OR "sarcoma, synovial, malignant" OR "synovial sarcoma (disease)"

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: 83 interventional · 5 observational · 2 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"sarcoma"

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 (14043) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T22:44:12.633Z