Mast cell sarcoma
- Type
- Disease
- Group
- Disorder
- Age of onset
- All ages
- Status
- active
Mast cell sarcoma is a rare, neoplastic disease characterized by locally destructive sarcoma-like growth of a solitary mass, composed of atypical mast cells, and without systemic involvement. It can affect any organ and the symptoms depend on the location. Cells are medium to large, pleomorphic or epithelioid, with oval, bilobed or multilobulated nuclei, sometimes prominent multinucleated giant cells. The disease closely resembles other neoplasms and may share associated markers, however the tumor is positive for mast cell tryptase.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mast cell sarcoma | |
| fr | Sarcome mastocytaire | |
| de | Mastzellsarkom | |
| es | Sarcoma de mastocitos | |
| it | Sarcoma mastocitico | |
| nl | Mestcelsarcoom | |
| pt | Sarcoma de mastócitos | |
| pl | Mięsak mastocytarny | |
| cs | Mastocytární sarkom | |
| uk | Саркома з тучних клітин | |
| zh | 肥大细胞肉瘤 | |
| tr | Mast hücre sarkomu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C96.2 | NTBT | inclusion | validated |
| ICD-11 | 2A21.2 | E | specific | validated |
| MONDO | 0019024 | E | validated | |
| MeSH | D012515 | E | validated | |
| UMLS | C0036221 | 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:98292Mastocytosis
rare hematological diseases; rare neoplastic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | 0.015 / 100 000 | Europe | Value and class | Validated | 26447996[PMID]_27602777[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
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100495 | Mastocytosis | |
| HP:0100242 | Sarcoma | |
| Frequent (79-30%) | ||
| HP:0012378 | Fatigue | |
| HP:0002240 | Hepatomegaly | |
| HP:0100720 | Hypoplasia of the ear cartilage | |
| HP:0002716 | Lymphadenopathy | |
| HP:0100721 | Mediastinal lymphadenopathy | |
| HP:0001744 | Splenomegaly | |
| HP:0001824 | Weight loss | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/66661
- This record as JSON: /data/d/66661.json