Alveolar soft tissue sarcoma
Synonyms: ASPS · Alveolar soft part sarcoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare soft tissue sarcoma characterized by a slowly growing, painless space-occupying lesion, composed of large, uniform, epithelioid cells arranged in solid nests and/or alveolar structures, separated by thin, sinusoidal vessels. The tumor mostly affects adolescents and young adults. Early metastasis, most commonly to the lung, bones, and brain, is a characteristic feature and relevant prognostic factor, together with age at presentation and tumor size, while histological features have no prognostic significance.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Alveolar soft tissue sarcoma | ASPS · Alveolar soft part sarcoma |
| fr | Sarcome alvéolaire des tissus mous | Sarcome alvéolaire des parties molles |
| de | Weichteilsarkom, alveoläres | |
| es | Sarcoma alveolar de tejidos blandos | Sarcoma alveolar de partes blandas |
| it | Sarcoma alveolare dei tessuti molli | Sarcoma alveolare delle parti molli |
| nl | Alveolair wekedelensarcoom | |
| pt | Sarcoma alveolar das partes moles | |
| pl | Mięsak pęcherzykowy tkanek miękkich | Mięsak pęcherzykowy części miękkich |
| cs | Alveolární sarkom měkkých tkání | ASPS · Alveolární sarkom měkkých částí |
| uk | Альвеолярна саркома мяких тканин | Саркома мякої частини альвеоли · ASPS |
| zh | 肺泡状软组织肉瘤 | 泡状软组织肉瘤 |
| tr | Alveolar yumuşak doku sarkomu | ASPS · Alveolar yumuşak bölge sarkomu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606243 | E | validated | |
| ICD-10 | C49.9 | NTBT | index | validated |
| ICD-11 | 2B5F.2 | NTBT | attributed | validated |
| ICD-11 | XH8V95 | NTBT | attributed | validated |
| MONDO | 0011655 | E | validated | |
| MeSH | D018234 | E | validated | |
| UMLS | C0206657 | E | validated | |
| GARD | 5654 | E | validated | |
| MedDRA | 10001882 | 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
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ASPSCR1 | Part of a fusion gene in | Assessed | HGNC:13825 | ENSG00000169696 | 606236 | 17q25.3 | ASPSCR1 tether for SLC2A4, UBX domain containing | 21279521[PMID] |
| TFE3 | Part of a fusion gene in | Assessed | HGNC:11752 | ENSG00000068323 | 314310 | Xp11.23 | transcription factor binding to IGHM enhancer 3 | 21279521[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/163699
- This record as JSON: /data/d/163699.json