Small cell carcinoma of the ovary
Synonyms: SCCO · Small cell ovarian carcinoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
Small cell carcinoma of the ovary is a rare, highly aggressive, poorly differentiated ovarian neoplasm, often associated with paraneoplastic hypercalcemia. It is usually diagnosed in childhood or young adulthood at an advanced stage and presents with abdominal or pelvic mass or, rarely, symptoms related to hypercalcemia. Occasional familial cases have been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Small cell carcinoma of the ovary | SCCO · Small cell ovarian carcinoma |
| fr | Carcinome à petites cellules de l'ovaire | Carcinome ovarien à petites cellules · SCCO |
| de | Ovarialkarzinom, kleinzelliges | |
| es | Carcinoma de células pequeñas del ovario | Carcinoma ovárico de células pequeñas · SCCO |
| it | Carcinoma dell'ovaio a piccole cellule | Carcinoma ovarico a piccolo cellule · SCCO |
| nl | Kleincellig carcinoom van ovarium | Kleincellig carcinoom van eierstok · Kleincellig ovarieel carcinoom · SCCO |
| pt | Carcinoma de pequenas células do ovário | |
| pl | Drobnokomórkowy rak jajnika | SCCO |
| cs | Malobuněčný karcinom ovaria | SCCO |
| uk | Дрібноклітинна карцинома яєчника | SCCO · Дрібноклітинна карцинома яєчників |
| zh | 卵巢小细胞癌 | 小细胞卵巢癌 |
| tr | Overin küçük hücreli karsinomu | SCCO · Küçük hücreli over karsinomu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C56 | NTBT | attributed | validated |
| ICD-11 | 2C73.0Y | NTBT | attributed | validated |
| MONDO | 0003795 | E | validated | |
| UMLS | C2212006 | E | validated | |
| GARD | 10411 | 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:140162Inherited cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:398940Malignant non-epithelial tumor of ovary
rare neoplastic diseases; rare gynecological and obstetric diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SMARCA4 | Disease-causing germline mutation(s) in | Assessed | HGNC:11100 | ENSG00000127616 | 603254 | 19p13.2 | SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | 24658002[PMID]_24658004[PMID]_24658001[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 300 cases | Worldwide | Case(s) | Validated | 29731803[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 29731803[PMID]_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/370396
- This record as JSON: /data/d/370396.json