Microcystic stromal tumor
Synonyms: MCST
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A rare benign ovarian stromal tumor characterized by a stromal neoplasm with variable microcystic morphology, low mitotic activity, and diffuse nuclear beta-catenin and cyclin D1 immunoreactivity, while inhibin and calretinin are not expressed. Patients most commonly present with symptoms of a unilateral pelvic mass. Hormonal manifestations are usually absent. The tumor may be associated with familial adenomatous polyposis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcystic stromal tumor | MCST |
| fr | Tumeur stromale microkystique | |
| de | Mikrozystischer Stromatumor | = en |
| es | Tumor estromal microquístico | |
| it | Tumore stromale microcistico | = en |
| nl | Microcystische stromale tumor | = en |
| pt | Tumor microquístico do estroma | |
| pl | Drobnopęcherzykowy guz z komórek podścieliska | = en |
| cs | Mikrocystický stromální tumor | = en |
| uk | Мікрокістозна стромальна пухлина | = en |
| zh | 微囊性子宫内膜间质细胞瘤 | = en |
| tr | Mikrokistik stromal tümör | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D27 | NTBT | attributed | validated |
| ICD-11 | 2F32.Y | NTBT | attributed | validated |
| ICD-11 | XH35B3 | E | specific | validated |
| MONDO | 0006339 | E | validated | |
| UMLS | C3838965 | 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:97293Rare benign ovarian tumor
rare neoplastic diseases; rare gynecological and obstetric diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CTNNB1 | Candidate gene tested in | Not yet assessed | HGNC:2514 | ENSG00000168036 | 116806 | 3p22.1 | catenin beta 1 | 28551672[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/569248
- This record as JSON: /data/d/569248.json