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ORPHA:66627

Tenosynovial giant cell tumor

medium confidenceDisorder

Also known as: Diffuse-type GCT · Diffuse-type giant cell tumor · TGCT · TSGCT

Publications

4,032

90.8th percentile

Trials

23

Interventional, condition-specific

Researchers

954

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare soft tissue tumor characterized by lesions predominantly originating from the synovial tissue of joints, tendon sheaths, or bursa. They are typically benign tumors that can either be localized or diffused. Localized tumors are usually painless, firm and slow growing, detected mostly in the fingers and hand (can also be present in wrist, foot or ankle), and patients are asymptomatic. Diffuse-type tumors are more aggressive and often involve large joints (knee, hip, ankle and shoulder). Symptoms may include joint pain, tenderness, swelling, limitation of motion and hemorrhagic joint effusions. Some localized tumors may recur, however they are usually non-destructive. Recurrences are more common in diffused tumors and can lead to joint instability, degenerative joint disease and significant functional impairment. Rare cases with malignant transformation, presenting as aggressive sarcomas leading to local destruction and metastasis to lymph nodes (particularly inguinal and pelvic) and lungs are also reported.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (14)

diffuse giant cell neoplasm of Tenosynovium · diffuse giant cell neoplasm of tendon sheath · diffuse giant cell neoplasm of the Tenosynovium · diffuse giant cell tumor of Tenosynovium · diffuse giant cell tumor of tendon sheath · diffuse giant cell tumor of the Tenosynovium · diffuse giant cell tumour of Tenosynovium · diffuse giant cell tumour of tendon sheath · diffuse giant cell tumour of the Tenosynovium · diffuse tenosynovial giant cell neoplasm · diffuse tenosynovial giant cell tumor · diffuse tenosynovial giant cell tumour · pigmented villonodular synovitis · tenosynovial giant cell tumor, diffuse type

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

    4,032 matched papers (2,198 in last 10 years) Source

  3. Phenotype characterisedPresent

    24 HPO annotations (e.g. Joint stiffness; Osteolysis; Conductive hearing impairment) Source

  4. Animal modelNot found

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

  5. Orphan designationPresent

    3 FDA designations (2 FDA orphan-indication approvals) — e.g. Cabiralizumab Source

  6. Interventional trialPresent

    23 matched on ClinicalTrials.gov (6 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)

24

Associated phenotypes · MONDO:0024686

  • Joint stiffness
  • Osteolysis
  • Conductive hearing impairment
  • Multiple lentigines
  • Abnormality of the wrist

Showing 5 of 24 — 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)

3

Designations · 2 with FDA orphan-indication approval

  • FDA CabiralizumabPigmented villonodular synovitis Tenosynovial Giant Cell Tumor · 2016-01-11 · Not FDA Approved for Orphan Indication
  • FDA LacnotuzumabGiant Cell Tumor Pigmented villonodular synovitis · 2014-08-19 · Not FDA Approved for Orphan Indication
  • FDA pexidartinib (TURALIO)Giant Cell Tumor Pigmented villonodular synovitis · 2014-02-14

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

7

Drugs / clinical candidates · MONDO_0024686

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

4,032

4,032 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.

4,032 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).

2,198 in the last 10 years · medium confidence · 90.8th percentile (publications denominator)

Phrase hits: 4,032 · MeSH hits: 10

Open Europe PMC search

Who's working on it?

954

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 · 2025

    Key Laboratory for Biotech-Drugs of National Health Commission, Key Laboratory for Rare & Uncommon Diseases of Shandong Province, Biomedical Sciences College & Shandong Medicinal Biotechnology Centre, Shandong First Medical University & Shandong Academy of Medical Sciences, Ji'nan, China.

    Papers in Europe PMC
  2. 02
    Jiang H4 papers · 2026

    First Clinical Medical College, Shandong University of Traditional Chinese Medicine, Jinan, China.

    Papers in Europe PMC
  3. 03
    Kim JY4 papers · 2025

    Department of Radiology, St. Vincent's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.

    Papers in Europe PMC
  4. 04
    Lee SK4 papers · 2025

    Department of Radiology, St. Vincent's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.

    Papers in Europe PMC
  5. 05
    Palmerini E4 papers · 2026

    Sylvester Comprehensive Cancer Center, University of Miami, 1475 NW 12th Ave, Miami, FL, 33136, USA. epalmerini@miami.edu.

    Papers in Europe PMC
  6. 06
    Wang L4 papers · 2026

    Department of Neurosurgery, Tulane Medical Center, New Orleans, LA, USA. Electronic address: lwang13@tulane.edu.

    Papers in Europe PMC
  7. 07
    Chen L3 papers · 2026

    Department of Pediatric Pulmonology, West China Second University Hospital, Sichuan University, Chengdu, China.

    Papers in Europe PMC
  8. 08
    Ichikawa J3 papers · 2025

    Department of Orthopaedics, University of Yamanashi, Chuo, Japan.

    Papers in Europe PMC
  9. 09
    Kawasaki T3 papers · 2025

    Department of Pathology, Saitama Medical University International Medical Center, Hidaka, Japan.

    Papers in Europe PMC
  10. 10
    Li L3 papers · 2026

    Pathology Department, The Fourth People's Hospital of Chongqing, Central Hospital of Chongqing University, Chongqing, People's Republic of China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

23

interventional trials for this specific condition

23 interventional trials matched this specific condition name; 6 currently recruiting in our sample. 15 trials are registered for giant cell tumor, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

23 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 95.3th percentile).

medium confidence · 95.3th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: giant cell tumor

15

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

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.

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 5 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · 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).

Uncertain / not reviewed (5)

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 Tenosynovial giant cell tumor — 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.

"Tenosynovial giant cell tumor" OR "Diffuse-type GCT" OR "Diffuse-type giant cell tumor" OR "TSGCT" OR "diffuse giant cell neoplasm of Tenosynovium" OR "diffuse giant cell neoplasm of the Tenosynovium" OR "diffuse giant cell neoplasm of tendon sheath" OR "diffuse giant cell neoplasm of the tendon sheath" OR "diffuse giant cell tumor of Tenosynovium" OR "diffuse giant cell tumor of the Tenosynovium" OR "diffuse giant cell tumor of tendon sheath" OR "diffuse giant cell tumor of the tendon sheath" OR "diffuse giant cell tumour of Tenosynovium" OR "diffuse giant cell tumour of the Tenosynovium" OR "diffuse giant cell tumour of tendon sheath" OR "diffuse giant cell tumour of the tendon sheath" OR "diffuse tenosynovial giant cell neoplasm" OR "diffuse tenosynovial giant cell tumor" OR "diffuse tenosynovial giant cell tumour" OR "pigmented villonodular synovitis" OR "tenosynovial giant cell tumor, diffuse type"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Synovitis, Pigmented Villonodular

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

"Tenosynovial giant cell tumor" OR "Diffuse-type GCT" OR "Diffuse-type giant cell tumor" OR "TSGCT" OR "diffuse giant cell neoplasm of Tenosynovium" OR "diffuse giant cell neoplasm of the Tenosynovium" OR "diffuse giant cell neoplasm of tendon sheath" OR "diffuse giant cell neoplasm of the tendon sheath" OR "diffuse giant cell tumor of Tenosynovium" OR "diffuse giant cell tumor of the Tenosynovium" OR "diffuse giant cell tumor of tendon sheath" OR "diffuse giant cell tumor of the tendon sheath" OR "diffuse giant cell tumour of Tenosynovium" OR "diffuse giant cell tumour of the Tenosynovium" OR "diffuse giant cell tumour of tendon sheath" OR "diffuse giant cell tumour of the tendon sheath" OR "diffuse tenosynovial giant cell neoplasm" OR "diffuse tenosynovial giant cell tumor" OR "diffuse tenosynovial giant cell tumour" OR "pigmented villonodular synovitis" OR "tenosynovial giant cell tumor, diffuse type" OR "Synovitis, Pigmented Villonodular"

Interventional trials matched via: both, 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: 23 interventional · 4 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"giant cell tumor"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: TGCT

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

Ingested 2026-07-27T01:21:17.941Z