Myxofibrosarcoma
Synonyms: Fibromyxosarcoma · Myxoid malignant fibrous histiocytoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A rare soft tissue sarcoma characterized by a malignant, fibroblastic lesion with variably myxoid stroma, pleomorphism, and a distinctively curvilinear vascular pattern. The majority of tumors arise in the limbs including the limb girdles, more often in dermal/subcutaneous tissues than in the underlying fascia and skeletal muscle, and usually present as a slowly growing, painless mass. Depth of the lesion and tumor grade do not influence the high rate of local recurrence, while the percentage of metastasis and tumor-associated mortality are much higher in deep-seated and high-grade neoplasms.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Myxofibrosarcoma | Fibromyxosarcoma · Myxoid malignant fibrous histiocytoma |
| fr | Myxofibrosarcome | Fibrohistiocytome myxoïde malin · Fibromyxosarcome |
| de | Myxofibrosarkom | Fibromyxosarkom · Histiozytom, fibröses malignes myxoides |
| es | Mixofibrosarcoma | Histiocitoma fibroso maligno tipo mixoide |
| it | Mixofibrosarcoma | Istiocitoma fibroso maligno mixoide |
| nl | Myxofibrosarcoom | Fibromyxosarcoom · Mixoïd maligne fibreus histiocytoom |
| pt | Mixofibrosarcoma | Histiocitoma fibroso mixóide maligno |
| pl | Śluzakowłókniakomięsak | Śluzakowata złośliwa włóknista histiocytoma · Włókniakośluzakomięsak |
| cs | Myxofibrosarkom | Fibromyxosarkom · Myxoidní maligní fibrózní histiocytom |
| uk | Міксофібросаркома | Фіброміксосаркома · Міксоїдна злоякісна фіброзна гістіоцитома |
| zh | 粘液样纤维肉瘤 | 黏液样恶性纤维组织细胞瘤 |
| tr | Miksofibromasarkom | Fibromiksosarkom · Miksoid habis fibröz histiyositoma |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C49.9 | NTBT | attributed | validated |
| ICD-11 | 2B53.0 | E | specific | validated |
| MONDO | 0019202 | E | validated | |
| UMLS | C3714524 | E | validated | |
| MedDRA | 10066948 | 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:206982Muscular tumor
rare neurological diseases - ORPHA:3394Soft tissue sarcoma
rare neoplastic diseases
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CREB3L1 | Part of a fusion gene in | Assessed | HGNC:18856 | ENSG00000157613 | 616215 | 11p11.2 | cAMP responsive element binding protein 3 like 1 | |
| CREB3L2 | Part of a fusion gene in | Assessed | HGNC:23720 | ENSG00000182158 | 608834 | 7q33 | cAMP responsive element binding protein 3 like 2 | |
| FUS | Part of a fusion gene in | Assessed | HGNC:4010 | ENSG00000089280 | 137070 | 16p11.2 | FUS RNA binding protein |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | 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/79105
- This record as JSON: /data/d/79105.json