{"orpha":3148,"name":"Malignant peripheral nerve sheath tumor","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MPNST","Malignant neurilemmoma","Malignant neurofibroma","Malignant schwannoma","Neurofibrosarcoma","Neurogenic sarcoma"],"definition":"Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3148/","orphanet_url":"https://www.orpha.net/en/disease/detail/3148","names":{"fr":{"name":"Tumeur maligne des gaines nerveuses périphériques","synonyms":["MPNST","Neurofibrome malin","Neurofibrosarcome","Sarcome neurogène","Sarcome neurogénique","Schwannome malin","Tumeur maligne des gaines des nerfs périphériques"],"definition":"Sarcome rare et souvent agressif des tissus mous qui se développe en de nombreux sites anatomiques."},"de":{"name":"Nervenscheidentumor, maligner peripherer","synonyms":["MPNST","Neurofibrosarkom","Sarkom, neurogenes","Schwannom, malignes"]},"es":{"name":"Tumor maligno de la vaina nerviosa periférica","synonyms":["MPNST","Neurilemoma maligno","Neurofibroma maligno","Neurofibrosarcoma","Sarcoma neurogénico","Schwannoma maligno"],"definition":"El tumor maligno de la vaina nerviosa periférica (MPNST) es un sarcoma de tejido blando raro y a menudo agresivo que ocurre en un amplio rango de localizaciones anatómicas."},"it":{"name":"Tumore maligno della guaina dei nervi periferici","synonyms":["MPNST","Neurilemmoma maligno","Neurofibroma maligno","Neurofibrosarcoma","Sarcoma neurogenico","Schwannoma maligno"],"definition":"Il tumore maligno della guaina dei nervi periferici (MPNST) è un raro sarcoma dei tessuti molli, spesso aggressivo, che interessa un'ampia gamma di siti anatomici."},"nl":{"name":"Maligne tumor van perifere zenuwschede","synonyms":["Kwaadaardige perifere zenuwschedetumor","MPNST","Maligne neurilemmoom","Maligne neurofibroom","Maligne schwannoom","Neurofibrosarcoom","Neurogeen sarcoom"],"definition":"Maligne perifere zenuwschedetumor (MPNST) is een zeldzaam en vaak agressief wekedelensarcoom dat voorkomt in een brede waaier van anatomische locaties."},"pt":{"name":"Tumor maligno da baínha dos nervos periféricos","synonyms":["Schwannoma maligno"]},"pl":{"name":"Złośliwy nowotwór osłonek nerwów obwodowych","synonyms":["Schwannoma złośliwa","Mięsak neurogenny","MPNST","Neurofibrosarcoma","Złośliwy nerwiak osłonkowy","Złośliwy nerwiakowłókniak"],"definition":"Złośliwy nowotwór osłonek nerwów obwodowych (MPNST) jest rzadkim i często agresywnym mięsakiem tkanek miękkich, występującym w różnych miejscach anatomicznych."},"cs":{"name":"Maligní tumor z pochvy periferního nervu","synonyms":["MPNST","Maligní neurilemom","Maligní neurofibrom","Maligní schwannom","Neurofibrosarkom","Neurogenní sarkom"]},"uk":{"name":"Злоякісна пухлина оболонки периферичного нерва","synonyms":["Злоякісна неврилеммома","Злоякісна нейрофіброма","Злоякісна шваннома","MPNST","Нейрофібросаркома","Нейрогенна саркома"],"definition":"Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites."},"zh":{"name":"恶性周边神经鞘肿瘤","synonyms":["恶性神经鞘瘤"]},"tr":{"name":"Habis periferik sinir kılıfı tümörü","synonyms":["MPNST","Nörofibrosarkom","Nörojenik sarkom","Habis schwannom","Habis nörilemmom","Habis nörofibrom"]}},"xrefs":[{"source":"ICD-10","code":"C47.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A02.10","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"71413945"},{"source":"MONDO","code":"0017827","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D018319","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751690","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10872","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10029236","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":3394,"name":"Soft tissue sarcoma","classifications":[202]},{"orpha":252057,"name":"Tumor of cranial and spinal nerves","classifications":[181,202]}],"children":[{"orpha":252128,"name":"Malignant peripheral nerve sheath tumor with perineurial differentiation","type":"Histopathological subtype"},{"orpha":252212,"name":"Malignant triton tumor","type":"Histopathological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"HTRA1","name":"HtrA serine peptidase 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"27723760[PMID]","hgnc":"9476","ensembl":"ENSG00000166033","omim":"602194","loci":["10q26.13"],"via":{"orpha":252128,"name":"Malignant peripheral nerve sheath tumor with perineurial differentiation"}},{"symbol":"HTRA1","name":"HtrA serine peptidase 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"27723760[PMID]","hgnc":"9476","ensembl":"ENSG00000166033","omim":"602194","loci":["10q26.13"],"via":{"orpha":252212,"name":"Malignant triton tumor"}},{"symbol":"SH3PXD2A","name":"SH3 and PX domains 2A","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"27723760[PMID]","hgnc":"23664","ensembl":"ENSG00000107957","omim":"619455","loci":["10q24.33"],"via":{"orpha":252128,"name":"Malignant peripheral nerve sheath tumor with perineurial differentiation"}},{"symbol":"SH3PXD2A","name":"SH3 and PX domains 2A","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"27723760[PMID]","hgnc":"23664","ensembl":"ENSG00000107957","omim":"619455","loci":["10q24.33"],"via":{"orpha":252212,"name":"Malignant triton tumor"}}],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Elderly","Infancy"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Worldwide","status":"Validated","source":"24470531[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24470531[PMID]"}],"phenotypes":null}