ORPHA:3148
Malignant peripheral nerve sheath tumor
Synonyms: MPNST · Malignant neurilemmoma · Malignant neurofibroma · Malignant schwannoma · Neurofibrosarcoma · Neurogenic sarcoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Elderly, Infancy
- Status
- active
Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Malignant peripheral nerve sheath tumor | MPNST · Malignant neurilemmoma · Malignant neurofibroma · Malignant schwannoma · Neurofibrosarcoma · Neurogenic sarcoma |
| fr | Tumeur maligne des gaines nerveuses périphériques | MPNST · Neurofibrome malin · Neurofibrosarcome · Sarcome neurogène · Sarcome neurogénique · Schwannome malin · Tumeur maligne des gaines des nerfs périphériques |
| de | Nervenscheidentumor, maligner peripherer | MPNST · Neurofibrosarkom · Sarkom, neurogenes · Schwannom, malignes |
| es | Tumor maligno de la vaina nerviosa periférica | MPNST · Neurilemoma maligno · Neurofibroma maligno · Neurofibrosarcoma · Sarcoma neurogénico · Schwannoma maligno |
| it | Tumore maligno della guaina dei nervi periferici | MPNST · Neurilemmoma maligno · Neurofibroma maligno · Neurofibrosarcoma · Sarcoma neurogenico · Schwannoma maligno |
| nl | Maligne tumor van perifere zenuwschede | Kwaadaardige perifere zenuwschedetumor · MPNST · Maligne neurilemmoom · Maligne neurofibroom · Maligne schwannoom · Neurofibrosarcoom · Neurogeen sarcoom |
| pt | Tumor maligno da baínha dos nervos periféricos | Schwannoma maligno |
| pl | Złośliwy nowotwór osłonek nerwów obwodowych | Schwannoma złośliwa · Mięsak neurogenny · MPNST · Neurofibrosarcoma · Złośliwy nerwiak osłonkowy · Złośliwy nerwiakowłókniak |
| cs | Maligní tumor z pochvy periferního nervu | MPNST · Maligní neurilemom · Maligní neurofibrom · Maligní schwannom · Neurofibrosarkom · Neurogenní sarkom |
| uk | Злоякісна пухлина оболонки периферичного нерва | Злоякісна неврилеммома · Злоякісна нейрофіброма · Злоякісна шваннома · MPNST · Нейрофібросаркома · Нейрогенна саркома |
| zh | 恶性周边神经鞘肿瘤 | 恶性神经鞘瘤 |
| tr | Habis periferik sinir kılıfı tümörü | MPNST · Nörofibrosarkom · Nörojenik sarkom · Habis schwannom · Habis nörilemmom · Habis nörofibrom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C47.9 | NTBT | attributed | validated |
| ICD-11 | 2A02.10 | E | specific | validated |
| MONDO | 0017827 | E | validated | |
| MeSH | D018319 | E | validated | |
| UMLS | C0751690 | E | validated | |
| GARD | 10872 | E | validated | |
| MedDRA | 10029236 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:3394Soft tissue sarcoma
rare neoplastic diseases - ORPHA:252057Tumor of cranial and spinal nerves
rare neurological diseases; rare neoplastic diseases
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Genes
0 direct · 4 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| HTRA1 | ORPHA:252128Malignant peripheral nerve sheath tumor with perineurial differentiation | Part of a fusion gene in | Assessed | HGNC:9476 | ENSG00000166033 | 602194 | 10q26.13 | HtrA serine peptidase 1 | 27723760[PMID] |
| HTRA1 | ORPHA:252212Malignant triton tumor | Part of a fusion gene in | Assessed | HGNC:9476 | ENSG00000166033 | 602194 | 10q26.13 | HtrA serine peptidase 1 | 27723760[PMID] |
| SH3PXD2A | ORPHA:252128Malignant peripheral nerve sheath tumor with perineurial differentiation | Part of a fusion gene in | Assessed | HGNC:23664 | ENSG00000107957 | 619455 | 10q24.33 | SH3 and PX domains 2A | 27723760[PMID] |
| SH3PXD2A | ORPHA:252212Malignant triton tumor | Part of a fusion gene in | Assessed | HGNC:23664 | ENSG00000107957 | 619455 | 10q24.33 | SH3 and PX domains 2A | 27723760[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 1 / 100 000 | Worldwide | Value and class | Validated | 24470531[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_24470531[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3148
- This record as JSON: /data/d/3148.json