SMARCA4-deficient sarcoma of thorax
Synonyms: SMARCA4-deficient thoracic sarcoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A rare soft tissue tumor characterized by a compressive mass located in the mediastinum and/or pleura and lung, including prominent lymph node involvement, histologically poorly differentiated and frequently showing rhabdoid features. Loss of SMARCA4 is typically accompanied by SMARCA2-deficiency. Presenting symptoms include dyspnea, cough, chest pain, or dysphagia, among others. The tumors are aggressive with limited response to chemotherapies, rapid local progression, high recurrence rate after surgical resection, and short median survival times. There is a strong association with smoking.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | SMARCA4-deficient sarcoma of thorax | SMARCA4-deficient thoracic sarcoma |
| fr | Sarcome du thorax SMARCA4-déficient | Sarcome thoracique SMARCA4-déficient |
| de | Sarkom des Thorax bei SMARCA4-Mangel | Sarkom, thorakales, durch SMARCA4-Defizienz |
| es | Sarcoma de tórax deficiente en SMARCA4 | Sarcoma torácico deficiente en SMARCA4 |
| it | Sarcoma del torace con deficit di SMARCA4 | |
| nl | SMARCA4-deficiënt sarcoom van thorax | SMARCA4-deficiënt thoracaal sarcoom |
| pt | Sarcoma do tórax por défice de SMARCA4 | |
| pl | Mięsak klatki piersiowej z deficytem SMARCA4 | = en |
| cs | SMARCA4 deficitní sarkom hrudníku | SMARCA4-deficient thoracic sarcoma · SMARCA4-deficientní hrudní sarkom |
| uk | SMARCA4-дефіцитна саркома грудної клітки | SMARCA4-дефіцитна саркома грудної клітки |
| zh | SMARCA4相关胸部肉瘤 | SMARCA4缺乏导致的胸肉瘤 |
| tr | Toraksın SMARCA4-yetmezliğine bağlı sarkoması | SMARCA4-eksikliğine bağlı torasik sarkom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C49.3 | NTBT | attributed | not yet validated |
| MONDO | 0018761 | E | validated | |
| UMLS | C5554190 | 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 (2):
- ORPHA:98060Rare respiratory tumor
rare respiratory diseases; rare neoplastic diseases - ORPHA:3394Soft tissue sarcoma
rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SMARCA4 | Disease-causing somatic mutation(s) in | Assessed | HGNC:11100 | ENSG00000127616 | 603254 | 19p13.2 | SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | 26343384[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26343384[PMID] |
| Cases/families | 19 cases | Worldwide | Case(s) | Validated | 26343384[PMID] |
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/466962
- This record as JSON: /data/d/466962.json