Melanoma of soft tissue
Synonyms: Clear cell sarcoma of the tendons and aponeuroses
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A rare soft tissue tumor characterized by a slowly growing mass typically involving tendons and aponeuroses of the extremities, composed of polygonal or spindle-shaped cells with melanocytic differentiation. The tumor typically affects young adults, who often present with pain or tenderness at the tumor site. Prognosis is poor with high recurrence rates and frequent metastasis, especially to lymph nodes, lung, and bones.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Melanoma of soft tissue | Clear cell sarcoma of the tendons and aponeuroses |
| fr | Mélanome des tissus mous | Mélanome des parties molles · Sarcome des tissus mous à cellules claires · Sarcome à cellules claires des tendons et des aponévroses |
| de | Melanom der Weichteile | Klarzellsarkom der Sehnen und Aponeurosen |
| es | Melanoma de partes blandas | Melanoma de tejidos blandos · Sarcoma de células claras de tendones y aponeurosis |
| it | Melanoma dei tessuti molli | Melanoma dei tessuti molli · Sarcoma a cellule chiare dei tendini e delle aponeurosi · Sarcoma a cellule chiare dei tessuti molli |
| nl | Melanoom van weke delen | Heldercellig sarcoom van pezen en aponeurosen |
| pt | Melanoma dos tecidos moles | |
| pl | Czerniak tkanek miękkich | Mięsak jasnokomórkowy ścięgien i powięzi · Mięsak jasnokomórkowy tkanek miękkich |
| cs | Melanom měkkých tkání | Světlobuněčný sarkom šlach a aponeuróz |
| uk | Меланома мяких тканин | Ясноклітинна саркома сухожиль та апоневрозів |
| zh | 软组织恶性黑色素瘤 | 肌腱腱膜透明细胞肉瘤 |
| tr | Yumuşak doku melanomu | Tendonların ve aponevrozların temiz hücre sarkomu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C43.6 | BTNT | attributed | validated |
| ICD-10 | C43.7 | BTNT | attributed | validated |
| MONDO | 0019971 | E | validated | |
| UMLS | C0206651 | 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
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATF1 | Part of a fusion gene in | Assessed | HGNC:783 | ENSG00000123268 | 123803 | 12q13.12 | activating transcription factor 1 | 19561568[PMID] |
| CREB1 | Part of a fusion gene in | Assessed | HGNC:2345 | ENSG00000118260 | 123810 | 2q33.3 | cAMP responsive element binding protein 1 | 19561568[PMID] |
| EWSR1 | Part of a fusion gene in | Assessed | HGNC:3508 | ENSG00000182944 | 133450 | 22q12.2 | EWS RNA binding protein 1 | 19561568[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3.89 / 100 000 | Worldwide | Value and class | 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/97338
- This record as JSON: /data/d/97338.json