Tenosynovial giant cell tumor, diffuse type
diseaseOn this page
Also known as diffuse giant cell neoplasm of tendon sheathdiffuse giant cell neoplasm of Tenosynoviumdiffuse giant cell neoplasm of the Tenosynoviumdiffuse giant cell tumor of tendon sheathdiffuse giant cell tumor of Tenosynoviumdiffuse giant cell tumor of the Tenosynoviumdiffuse giant cell tumour of tendon sheathdiffuse giant cell tumour of Tenosynoviumdiffuse giant cell tumour of the Tenosynoviumdiffuse pigmented villonodular synovitisdiffuse tenosynovial giant cell neoplasmdiffuse tenosynovial giant cell tumordiffuse tenosynovial giant cell tumourdiffuse-type GCTdiffuse-type giant cell tumordiffuse-type giant cell tumourlocalised pigmented villonodular synovitislocalized pigmented villonodular synovitispigmented villonodular synovitistenosynovial giant cell tumor diffuse type
Summary
Tenosynovial giant cell tumor, diffuse type (MONDO:0024686) is a cancer and 16 clinical trials. Top therapeutic interventions include nilotinib, pexidartinib, and vimseltinib. A subtype of tenosynovial giant cell tumor — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Classification: Cancer
- Prevalence: 1-5 / 10 000 (Europe) [Orphanet-validated]
- Phenotypes (HPO): 24
- Clinical trials: 16
Clinical features
Epidemiology
Prevalence records
1 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 20 | Europe | Validated |
Signs & symptoms
Clinical features (HPO)
24 HPO clinical features (Orphanet curated; top 24 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0002829 | Arthralgia | Very frequent (80-99%) |
| HP:0001369 | Arthritis | Frequent (30-79%) |
| HP:0001376 | Limitation of joint mobility | Frequent (30-79%) |
| HP:0001386 | Joint swelling | Frequent (30-79%) |
| HP:0001387 | Joint stiffness | Frequent (30-79%) |
| HP:0002797 | Osteolysis | Frequent (30-79%) |
| HP:0002815 | Abnormality of the knee | Frequent (30-79%) |
| HP:0005261 | Joint hemorrhage | Frequent (30-79%) |
| HP:0000372 | Abnormality of the auditory canal | Occasional (5-29%) |
| HP:0000405 | Conductive hearing impairment | Occasional (5-29%) |
| HP:0001003 | Multiple lentigines | Occasional (5-29%) |
| HP:0001004 | Lymphedema | Occasional (5-29%) |
| HP:0001384 | Abnormality of the hip joint | Occasional (5-29%) |
| HP:0003019 | Abnormality of the wrist | Occasional (5-29%) |
| HP:0003028 | Abnormality of the ankles | Occasional (5-29%) |
| HP:0003043 | Abnormality of the shoulder | Occasional (5-29%) |
| HP:0009811 | Abnormality of the elbow | Occasional (5-29%) |
| HP:0009911 | Abnormal temporal bone morphology | Occasional (5-29%) |
| HP:0031520 | Groin pain | Occasional (5-29%) |
| HP:0040090 | Abnormality of the tympanic membrane | Occasional (5-29%) |
| HP:0000934 | Chondrocalcinosis | Very rare (<1-4%) |
| HP:0005186 | Synovial hypertrophy | Very rare (<1-4%) |
| HP:0005195 | Polyarticular arthropathy | Very rare (<1-4%) |
| HP:0040161 | Localized osteoporosis | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | tenosynovial giant cell tumor, diffuse type |
| Mondo ID | MONDO:0024686 |
| MeSH | D013586 |
| Orphanet | 66627 |
| DOID | DOID:2702, DOID:9898 |
| ICD-10-CM | M12.2 |
| NCIT | C3401 |
| SNOMED CT | 95412009 |
| UMLS | C0039106 |
| MedGen | 11691 |
| GARD | 0007396 |
| NORD | 1916 |
| Is cancer (heuristic) | yes |
Also known as: diffuse giant cell neoplasm of tendon sheath · diffuse giant cell neoplasm of Tenosynovium · diffuse giant cell neoplasm of the Tenosynovium · diffuse giant cell tumor of tendon sheath · diffuse giant cell tumor of Tenosynovium · diffuse giant cell tumor of the Tenosynovium · diffuse giant cell tumour of tendon sheath · diffuse giant cell tumour of Tenosynovium · diffuse giant cell tumour of the Tenosynovium · diffuse pigmented villonodular synovitis · diffuse tenosynovial giant cell neoplasm · diffuse tenosynovial giant cell tumor · diffuse tenosynovial giant cell tumour · diffuse-type GCT · diffuse-type giant cell tumor · diffuse-type giant cell tumour · localised pigmented villonodular synovitis · localized pigmented villonodular synovitis · pigmented villonodular synovitis · tenosynovial giant cell tumor diffuse type (+7 more)
Disease family
This is a subtype of tenosynovial giant cell tumor. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › giant cell tumor › tenosynovial giant cell tumor › tenosynovial giant cell tumor, diffuse type
Related subtypes (2): tenosynovial giant cell tumor, localized type, malignant tenosynovial giant cell tumor
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
Drugs indicated for this disease
0 approved, 4 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Emactuzumab | Phase 3 (in late-stage trials) |
| Pexidartinib | Phase 3 (in late-stage trials) |
| Pimicotinib | Phase 3 (in late-stage trials) |
| Vimseltinib | Phase 3 (in late-stage trials) |
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Nilotinib.
Clinical trials & evidence
Clinical trials
Clinical trials: 16.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| PHASE2 | 6 |
| PHASE3 | 4 |
| Not specified | 3 |
| PHASE1/PHASE2 | 2 |
| PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT05059262 | PHASE3 | ACTIVE_NOT_RECRUITING | Study of Vimseltinib for Tenosynovial Giant Cell Tumor |
| NCT05417789 | PHASE3 | ACTIVE_NOT_RECRUITING | Study of Emactuzumab for Tenosynovial Giant Cell Tumor (TGCT) |
| NCT05804045 | PHASE3 | ACTIVE_NOT_RECRUITING | Study of Pimicotinib (ABSK021) for Tenosynovial Giant Cell Tumor (MANEUVER) |
| NCT02371369 | PHASE3 | COMPLETED | Phase 3 Study of Pexidartinib for Pigmented Villonodular Synovitis (PVNS) or Giant Cell Tumor of the Tendon Sheath (GCT-TS) |
| NCT03069469 | PHASE1/PHASE2 | ACTIVE_NOT_RECRUITING | Study of Vimseltinib (DCC-3014) in Patients With Advanced Tumors and Tenosynovial Giant Cell Tumor |
| NCT01207492 | PHASE2 | COMPLETED | Nilotinib in Patients With Relapsed or Metastatic Pigmented Villonodular Synovitis/Tenosynovial Giant Cell Tumor/Diffuse-Type Giant Cell Tumor |
| NCT01261429 | PHASE2 | COMPLETED | Study of Nilotinib Efficacy in Pigmented Villo-Nodular Synovitis/ Tenosynovial Giant Cell Tumour (PVNS/TGCT) |
| NCT01643850 | PHASE2 | COMPLETED | MCS110 in Patients With Pigmented Villonodular Synovitis (PVNS) |
| NCT02471716 | PHASE1/PHASE2 | COMPLETED | Study of Cabiralizumab in Patients With Pigmented Villonodular Synovitis / Diffuse Type Tenosynovial Giant Cell Tumor |
| NCT04731675 | PHASE2 | COMPLETED | An Open-Label Study of Intra-articular AMB-05X Injections in Subjects With Tenosynovial Giant Cell Tumor of the Knee |
| NCT04938180 | PHASE2 | TERMINATED | A Phase 2 Study of Intravenous AMB-05X in Tenosynovial Giant Cell Tumor Patients |
| NCT05349643 | PHASE2 | COMPLETED | A Study to Evaluate Safety and Efficacy of AMB-05X Injections in Subjects With TGCT |
| NCT05277454 | PHASE1 | UNKNOWN | Clinical Study of HMPL-653 in Treatment of Advanced Malignant Solid Tumors and TGCT |
| NCT06709911 | Not specified | NOT_YET_RECRUITING | A Comparative Study of the Efficacy of Multimodal Interventions for Tenosynovitis |
| NCT04952896 | Not specified | COMPLETED | Clinical Study of Magnetic Resonance Imaging and Deep Learning of Joint Synovial Disease |
| NCT04955535 | Not specified | COMPLETED | Screening of Specific Genes for Pigmented Villous Nodular Synovitis |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| NILOTINIB | 4 | 3 |
| PEXIDARTINIB | 4 | 1 |
| VIMSELTINIB | 3 | 2 |
| EMACTUZUMAB | 3 | 1 |
| CABIRALIZUMAB | 2 | 1 |
Related Atlas pages
- Drugs: Nilotinib, Pexidartinib, Vimseltinib, Emactuzumab