Tenosynovial giant cell tumor
Synonyms: Diffuse-type GCT · Diffuse-type giant cell tumor · TGCT · TSGCT
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tenosynovial giant cell tumor | Diffuse-type GCT · Diffuse-type giant cell tumor · TGCT · TSGCT |
| fr | Tumeur ténosynoviale à cellules géantes | Ténosynovite villonodulaire pigmentée · BVNP · Bursite villonodulaire hémopigmentée · Bursite villonodulaire pigmentée · SVNP · Synovialome bénin à cellules géantes · Synovite villeuse pigmentée · Synovite villonodulaire hémopigmentée · Synovite villonodulaire pigmentée · TGCCP · Tumeur à cellules géantes des parties molles · Ténosynovite villonodulaire hémopigmentée |
| de | Tenosynovialer Riesenzelltumor | Diffuser Riesenzelltumor · GCTTS · TSGCT · TSRZT |
| es | Tumor tenosinovial de células gigantes | TCGT · TCG tipo difuso · Tumor de células gigantes tenosinovial · Tumor de células gigantes tipo difuso |
| it | Tumore tenosinoviale a cellule giganti | GCT tipo diffuso · TGCT · TSGCT · Tumore a cellule giganti tipo diffuso |
| nl | Tenosynoviale reusceltumor | Diffuus type GCT · Diffuus type reusceltumor · TGCT · TSGCT |
| pt | Tumor tenosinovial de células gigantes | GCT tipo-difuso · TGCT · TSGCT · Tumor de células gigantes tipo-difuso |
| pl | Barwnikowe kosmkowo-guzkowe zapalenie błony maziowej stawów | GCT typ rozlany · Guz olbrzymiokomórkowy ścięgna i błony maziowej · Guz olbrzymiokomórkowy typ rozlany · TGCT · TSGCT |
| cs | Pigmentovaná vilonodulární synovitida | Difuzní typ GCT · TGCT · TSGCT · Difuzní typ obrovskobuněčného nádoru · Obrovskobuněčný tumor šlachové pochvy |
| uk | Теносиновіальна гігантоклітинна пухлина | GCT дифузного типу · Гігантоклітинна пухлина дифузного типу · Пігментний віллонодулярний синовіт · TGCT · TSGCT |
| zh | 色素绒毛结节性滑膜炎 | 腱鞘巨细胞瘤 |
| tr | Pigmentli villonodüler sinovit | TGCT · TSGCT · Yaygın-tip GCT · Yaygın-tip dev hücreli tümör · Tenosinoviyal dev hücreli tümör |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | M12.2 | E | specific | validated |
| ICD-11 | 2F7Z | NTBT | attributed | validated |
| ICD-11 | XH6911 | E | specific | validated |
| MONDO | 0024686 | E | validated | |
| MONDO | 24686 | E | validated | |
| MeSH | D000070779 | E | validated | |
| UMLS | C1318543 | E | validated | |
| GARD | 7396 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:71209Rare soft tissue tumor
rare neoplastic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 20 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2015[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
24 annotations · validated 2019-08-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002829 | Arthralgia | |
| Frequent (79-30%) | ||
| HP:0002815 | Abnormality of the knee | |
| HP:0001369 | Arthritis | |
| HP:0005261 | Joint hemorrhage | |
| HP:0001387 | Joint stiffness | |
| HP:0001386 | Joint swelling | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0002797 | Osteolysis | |
| Occasional (29-5%) | ||
| HP:0009911 | Abnormal temporal bone morphology | |
| HP:0003028 | Abnormality of the ankles | |
| HP:0000372 | Abnormality of the auditory canal | |
| HP:0009811 | Abnormality of the elbow | |
| HP:0001384 | Abnormality of the hip joint | |
| HP:0003043 | Abnormality of the shoulder | |
| HP:0040090 | Abnormality of the tympanic membrane | |
| HP:0003019 | Abnormality of the wrist | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0031520 | Groin pain | |
| HP:0001004 | Lymphedema | |
| HP:0001003 | Multiple lentigines | |
| Very rare (<4-1%) | ||
| HP:0000934 | Chondrocalcinosis | |
| HP:0040161 | Localized osteoporosis | |
| HP:0005195 | Polyarticular arthropathy | |
| HP:0005186 | Synovial hypertrophy | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 30745604[PMID]_31242479[PMID]_24701714[PMID]_30594158[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/66627
- This record as JSON: /data/d/66627.json