ORPHA:209916
Extraskeletal myxoid chondrosarcoma
Publications
3,597
95.7th percentile
Trials
11
Interventional, condition-specific
Researchers
1,297
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare soft tissue sarcoma characterized by a lesion in the deep soft tissues of the proximal extremities and limb girdles, composed of malignant chondroblast-like cells arranged in cords, clusters, or networks, and an abundant myxoid matrix. The tumor is typically encased by a pseudocapsule and divided into multiple nodules by fibrous septa. Patients present with a soft tissue mass which can be painful and may ulcerate the skin or restrict range of motion if located next to joints. Despite prolonged survival, local recurrence and metastasis are frequent.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012825
- MeSH:C563195
- OMIM:612237
- UMLS:C1275278
- NCIT:C27502
Additional Mondo synonyms (4)
extraosseous chondrosarcoma · extraskeletal chondrosarcoma · myxoid extraosseous chondrosarcoma · myxoid extraskeletal chondrosarcoma
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
3,597 matched papers (2,227 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
11 matched on ClinicalTrials.gov (1 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?
3,597
3,597 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.
3,597 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).
2,227 in the last 10 years · high confidence · 95.7th percentile (publications denominator)
Phrase hits: 3,597 · MeSH hits: 2
Who's working on it?
1,297
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.
- 01Kawai A6 papers · 2025
Division of Musculoskeletal Oncology and Rehabilitation, National Cancer Center Hospital, Tokyo, Japan.
Papers in Europe PMC - 02Antonescu CR5 papers · 2025
Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Papers in Europe PMC - 03Chen X5 papers · 2026
Department of Pathology, Chongqing University Cancer Hospital, Chongqing, 400030, P.R. China.
Papers in Europe PMC - 04
- 05Agaimy A4 papers · 2026
Institute of Pathology, University Hospital of Erlangen, Erlangen, Germany.
Papers in Europe PMC - 06Chen Y4 papers · 2026
Department of Pathology and Molecular Pathology, University Hospital Zurich, Schmelzbergstrasse 12, 8006, Zurich, Switzerland.
Papers in Europe PMC - 07Ichikawa J4 papers · 2026
Department of Orthopaedic Surgery, Interdisciplinary Graduate School of Medicine, University of Yamanashi, Chuo, Japan.
Papers in Europe PMC - 08Michal M4 papers · 2025
Department of Pathology, Faculty of Medicine in Plzen, Charles University, Pilsen, Czech Republic.
Papers in Europe PMC - 09Wako M4 papers · 2026
Department of Orthopaedic Surgery, Interdisciplinary Graduate School of Medicine, University of Yamanashi, Chuo, Japan.
Papers in Europe PMC - 10Yoshida A4 papers · 2025
Department of Diagnostic Pathology, National Cancer Center Hospital, 5-1-1 Tsukiji, Chuo-ku, Tokyo, 104-0045, Japan.
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; 1 currently recruiting in our sample.
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).
high 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.
- NCT06526897·NOT YET RECRUITING·Evaluation of Chest CT Versus Chest X-Ray for Lung Surveillance After Curative-Intent Resection of High-Risk Truncal-Extremity Soft Tissue Sarcoma
Conditions: Adult Pleomorphic Rhabdomyosarcoma · AJCC Grade 2 Sarcoma · AJCC Grade 3 Sarcoma · Alveolar Soft Part Sarcoma·Matched via name phrase
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.
"Extraskeletal myxoid chondrosarcoma" OR "extraosseous chondrosarcoma" OR "extraskeletal chondrosarcoma" OR "myxoid extraosseous chondrosarcoma" OR "myxoid extraskeletal chondrosarcoma"
MeSH descriptor terms unioned into the query: Chondrosarcoma, Extraskeletal Myxoid
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Extraskeletal myxoid chondrosarcoma" OR "extraosseous chondrosarcoma" OR "extraskeletal chondrosarcoma" OR "myxoid extraosseous chondrosarcoma" OR "myxoid extraskeletal chondrosarcoma" OR "Chondrosarcoma, Extraskeletal Myxoid"
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.
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
Ingested 2026-07-27T09:25:51.011Z