Extraskeletal myxoid chondrosarcoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Extraskeletal myxoid chondrosarcoma | |
| fr | Chondrosarcome myxoïde extrasquelettique | |
| de | Chondrosarkom, extraskelettales myxoides | |
| es | Condrosarcoma mixoide extraesquelético | |
| it | Condrosarcoma mixoide extrascheletrico | |
| nl | Extraskeletaal myxoïd chondrosarcoom | |
| pt | Condrossarcoma mixóide extra-esquelético | |
| pl | Chrzęstniakomięsak śluzowy pozaszkieletowy | |
| cs | Extraskeletální myxoidní chondrosarkom | |
| uk | Позакісткова міксоїдна хондросаркома | |
| zh | 骨外黏液样软骨肉瘤 | |
| tr | Ekstraskeletal miksoid kondrosarkom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612237 | E | validated | |
| ICD-10 | C49.9 | NTBT | attributed | validated |
| ICD-11 | 2B50.Y | NTBT | index | validated |
| MONDO | 0012825 | E | validated | |
| MeSH | C563195 | E | validated | |
| UMLS | C1275278 | E | validated | |
| MedDRA | 10073134 | 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
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EWSR1 | Part of a fusion gene in | Assessed | HGNC:3508 | ENSG00000182944 | 133450 | 22q12.2 | EWS RNA binding protein 1 | 18855877[PMID] |
| NR4A3 | Part of a fusion gene in | Assessed | HGNC:7982 | ENSG00000119508 | 600542 | 9q31.1 | nuclear receptor subfamily 4 group A member 3 | 18855877[PMID] |
| TAF15 | Part of a fusion gene in | Assessed | HGNC:11547 | ENSG00000270647 | 601574 | 17q12 | TATA-box binding protein associated factor 15 | 18330903[PMID] |
| TCF12 | Part of a fusion gene in | Assessed | HGNC:11623 | ENSG00000140262 | 600480 | 15q21.3 | transcription factor 12 | 11156374[PMID] |
| TFG | Part of a fusion gene in | Assessed | HGNC:11758 | ENSG00000114354 | 602498 | 3q12.2 | trafficking from ER to golgi regulator | 22581839[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.2 / 100 000 | Europe | Value and class | 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/209916
- This record as JSON: /data/d/209916.json