Synovial sarcoma
Synonyms: Synovialosarcoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Synovial sarcoma | Synovialosarcoma |
| fr | Sarcome synovial | Synovialosarcome |
| de | Synovialsarkom | |
| es | Sarcoma sinovial | |
| it | Sarcoma sinoviale | |
| nl | Synoviaal sarcoom | Synoviosarcoom |
| pt | Sarcoma sinovial | Sinovialossarcoma |
| pl | Mięsak maziówkowy | = en |
| cs | Synoviální sarkom | Synovialosarkom |
| uk | Синовіальна саркома | Синовіалосаркома |
| zh | 滑膜肉瘤 | 滑膜肉瘤 |
| tr | Sinovyal sarkom | Sinoviyalosarkom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300813 | E | validated | |
| ICD-10 | C49.9 | NTBT | attributed | validated |
| MONDO | 0010434 | E | validated | |
| MeSH | D013584 | E | validated | |
| UMLS | C0039101 | E | validated | |
| GARD | 7721 | E | validated | |
| MedDRA | 10042863 | 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:3394Soft tissue sarcoma
rare neoplastic diseases
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SS18 | Part of a fusion gene in | Assessed | HGNC:11340 | ENSG00000141380 | 600192 | 18q11.2 | SS18 subunit of BAF chromatin remodeling complex | |
| SSX1 | Part of a fusion gene in | Assessed | HGNC:11335 | ENSG00000126752 | 312820 | Xp11.23 | SSX family member 1 | |
| SSX2 | Part of a fusion gene in | Assessed | HGNC:11336 | ENSG00000241476 | 300192 | Xp11.22 | SSX family member 2 |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3273
- This record as JSON: /data/d/3273.json