Angiomatoid fibrous histiocytoma
Synonyms: AFH
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare soft tissue tumor characterized by a slow-growing, usually painless, subcutaneous nodule, predominantly located in the extremities, less frequently the trunk or head and neck region. Histopathologically, the lesion is well-circumscribed, lobulated, and composed of epitheloid, ovoid, or spindle cells arranged in a nodular and often syncytial pattern, with pseudoangiomatoid spaces and a peripheral fibrous pseudocapsule with a prominent lymphoplasmacytic cuff. The tumor is most common in the first two decades of life and usually follows an indolent course, although local recurrence may occur, while metastasis is rare.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Angiomatoid fibrous histiocytoma | AFH |
| fr | Histiocytome fibreux angiomatoïde | HFA |
| de | Histiozytom, angiomatöses fibröses | = en |
| es | Histiocitoma fibroso angiomatoide | |
| it | Istiocitoma angiomatoide fibroso | = en |
| nl | Angiomatoïde fibreus histiocytoom | = en |
| pt | Histiocitoma fibroso angiomatoide | |
| pl | Naczyniak włóknistohistiocytarny/Angiomatoid fibrous histiocytoma | = en |
| cs | Angiomatoidní fibrózní histiocytom | = en |
| uk | Ангіоматоїдна фіброзна гістіоцитома | = en |
| zh | 血管瘤样纤维组织细胞瘤 | = en |
| tr | Anjiyomatoid fibröz histiyositoma | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612160 | E | validated | |
| ICD-10 | D21.9 | NTBT | attributed | validated |
| ICD-11 | 2F7C | NTBT | attributed | validated |
| ICD-11 | XH9362 | E | specific | validated |
| MONDO | 0012809 | E | validated | |
| MeSH | C563181 | E | validated | |
| UMLS | C1266127 | 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:79386Rare skin tumor or hamartoma
rare skin diseases; rare neoplastic diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CREB1 | Part of a fusion gene in | Assessed | HGNC:2345 | ENSG00000118260 | 123810 | 2q33.3 | cAMP responsive element binding protein 1 | 28114920[PMID] |
| EWSR1 | Part of a fusion gene in | Assessed | HGNC:3508 | ENSG00000182944 | 133450 | 22q12.2 | EWS RNA binding protein 1 | 28114920[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/569164
- This record as JSON: /data/d/569164.json