Malignant peripheral nerve sheath tumor with perineurial differentiation
Synonyms: Malignant perineurioma
- Type
- Histopathological subtype
- Group
- Subtype of disorder
- Status
- active
Malignant peripheral nerve sheath tumor with perineurial differentiation is a rare soft tissue sarcoma composed predominantly of spindle-shaped neoplastic cells showing perineurial differentiation and displaying abundant cellular pleomorphism or anaplasia, frequent mitoses, tumor necrosis and high metastatic potential. It often presents as a soft, painless, solid mass in subcutaneous tissues of the trunk or limbs, but tumors have also been described in the facial area, mediastinum, retroperitoneum, pancreas, paravertebral column and the pelvic soft tissues. Frequent local recurrence and distant metastatic spread has been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Malignant peripheral nerve sheath tumor with perineurial differentiation | Malignant perineurioma |
| fr | Tumeur maligne des gaines nerveuses périphériques avec différenciation périneurale | Périneuriome malin |
| de | Nervenscheidentumor, maligner peripherer, mit perineurialer Differenzierung | Perineuriom, malignes |
| es | Tumor maligno de vaina de los nervios periféricos con diferenciación perineural | Perineurioma maligno |
| it | Tumore maligno della guaina dei nervi periferici a differenziazione perineurale | |
| nl | Maligne tumor van perifere zenuwschede met perineuriale differentiatie | Kwaadaardig perineurioom · Maligne perineurioom |
| pt | Perineurioma maligno | |
| pl | Onerwiak złośliwy | = en |
| cs | Maligní perineuriom | = en |
| uk | Злоякісна пухлина оболонки периферичного нерва з периневральним диференціюванням | Злоякісна периневрома |
| zh | 恶性周围神经鞘肿瘤伴神经束膜分化 | 恶性神经束膜瘤 |
| tr | Perinöral farklılaşma ile seyreden habis periferik sinir kılıfı tümörü | Habis perinöryoma |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C47.9 | NTBT | attributed | validated |
| ICD-11 | 2C41 | E | specific | validated |
| MONDO | 0016751 | E | validated | |
| UMLS | C1266188 | 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:3148Malignant peripheral nerve sheath tumor
rare neurological diseases; rare neoplastic diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HTRA1 | Part of a fusion gene in | Assessed | HGNC:9476 | ENSG00000166033 | 602194 | 10q26.13 | HtrA serine peptidase 1 | 27723760[PMID] |
| SH3PXD2A | Part of a fusion gene in | Assessed | HGNC:23664 | ENSG00000107957 | 619455 | 10q24.33 | SH3 and PX domains 2A | 27723760[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/252128
- This record as JSON: /data/d/252128.json