Pleomorphic rhabdomyosarcoma
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Elderly, Infancy
- Status
- active
A rare soft tissue sarcoma characterized by a high-grade lesion occurring almost exclusively in adults, composed of bizarre polygonal, round, and spindle cells with evidence of skeletal muscle differentiation. Patients usually present with a rapidly growing, painful mass located in the deep soft tissues of the extremities, but also other anatomic regions. Prognosis is generally poor.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pleomorphic rhabdomyosarcoma | |
| fr | Rhabdomyosarcome pléomorphe | |
| de | Rhabdomyosarkom, pleomorphes | |
| es | Rabdomiosarcoma pleomórfico | |
| it | Rabdomiosarcoma pleomorfo | |
| nl | Pleomorf rhabdomyosarcoom | Pleiomorf rhabdomyosarcoom |
| pt | Rabdomiossarcoma pleomórfico | |
| pl | pleomorficzny mięsak prążkowanokomórkowy | |
| cs | Pleomorfní rhabdomyosarkom | |
| uk | Плеоморфна рабдоміосаркома | |
| zh | 多形性横纹肌肉瘤 | |
| tr | Pleomorfik rabdomyosarkom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C49.9 | NTBT | index | validated |
| MONDO | 0017386 | E | validated | |
| UMLS | C0334480 | 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:780Rhabdomyosarcoma
rare neurological diseases; rare neoplastic diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TP53 | Disease-causing germline mutation(s) in | Assessed | HGNC:11998 | ENSG00000141510 | 191170 | 17p13.1 | tumor protein p53 | 7706467[PMID] |
| NF1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:7765 | ENSG00000196712 | 613113 | 17q11.2 | neurofibromin 1 | 34166060[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | — | Europe | Class only | Validated | RARECARE surveillance of rare cancers in Europe 2011[OTHER] |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet 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/293199
- This record as JSON: /data/d/293199.json