ORPHA:83469
Desmoplastic small round cell tumor
Synonyms: DSRCT
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult
- Status
- active
An aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Desmoplastic small round cell tumor | DSRCT |
| fr | Tumeur desmoplastique à petites cellules | DSRCT · Tumeur desmoplastique à petites cellules rondes |
| de | Rundzelltumor, desmoplastischer | = en |
| es | Tumor desmoplásico de células pequeñas y redondas | = en |
| it | Tumore desmoplastico a piccole cellule rotonde | = en |
| nl | Desmoplastische klein- en rondcellige tumor | = en |
| pt | Tumor de células pequenas redondas desmoplásicas | |
| pl | Desmoplastyczny guz drobnookrągłokomórkowy | = en |
| cs | Desmoplastický kulatobuněčný tumor | = en |
| uk | Десмопластична невелика круглоклітинна пухлина | = en |
| zh | 结缔组织增生性小圆细胞肿瘤 | = en |
| tr | Desmoplastik küçük yuvarlak hücreli tümör | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C48.2 | NTBT | attributed | validated |
| ICD-11 | 2C53.Y | NTBT | attributed | validated |
| ICD-11 | XH5SN6 | E | specific | validated |
| MONDO | 0019373 | E | validated | |
| MeSH | D058405 | E | validated | |
| UMLS | C0281508 | E | validated | |
| GARD | 6265 | E | validated | |
| MedDRA | 10064581 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:168807Primary malignant peritoneal tumor
rare abdominal surgical diseases; rare neoplastic diseases; rare transplant-related disorders - ORPHA:3394Soft tissue sarcoma
rare neoplastic diseases
No children.
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Genes
2 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 | |
| WT1 | Part of a fusion gene in | Assessed | HGNC:12796 | ENSG00000184937 | 607102 | 11p13 | WT1 transcription factor |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 300 cases | Worldwide | Case(s) | Validated | 15557784[PMID] | |
| Annual incidence | <1 / 1 000 000 | — | Europe | Class only | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
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HPO phenotypes
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0002027 | Abdominal pain | |
| HP:0002585 | Abnormality of the peritoneum | |
| HP:0002716 | Lymphadenopathy | |
| HP:0100242 | Sarcoma | |
| Frequent (79-30%) | ||
| HP:0002240 | Hepatomegaly | |
| HP:0002595 | Ileus | |
| HP:0100721 | Mediastinal lymphadenopathy | |
| HP:0002017 | Nausea and vomiting | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0001903 | Anemia | |
| HP:0001541 | Ascites | |
| HP:0004326 | Cachexia | |
| HP:0100006 | Neoplasm of the central nervous system | |
| HP:0100526 | Neoplasm of the lung | |
| HP:0002894 | Neoplasm of the pancreas | |
| HP:0100615 | Ovarian neoplasm | |
| HP:0010788 | Testicular neoplasm | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/83469
- This record as JSON: /data/d/83469.json