{"orpha":252128,"name":"Malignant peripheral nerve sheath tumor with perineurial differentiation","type":"Histopathological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Malignant perineurioma"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-252128/","orphanet_url":"https://www.orpha.net/en/disease/detail/252128","names":{"fr":{"name":"Tumeur maligne des gaines nerveuses périphériques avec différenciation périneurale","synonyms":["Périneuriome malin"],"definition":"Un sarcome rare des tissus mous, principalement composé de cellules néoplasiques en forme de fuseau qui présentent une différenciation périneurale, une anaplasie ou un pléomorphisme cellulaire abondant, de fréquentes mitoses, une nécrose tumorale et un fort potentiel métastatique. Il se manifeste souvent par une masse indolore, molle ou solide dans les tissus sous-cutanées du tronc ou des membres, mais des tumeurs ont aussi été retrouvées au niveau des tissus mous du visage, du médiastin, du rétro-péritoine, du pancréas, de la colonne paravertébrale et du pelvis. La récurrence locale est fréquente et une dispersion métastatique a été rapportée."},"de":{"name":"Nervenscheidentumor, maligner peripherer, mit perineurialer Differenzierung","synonyms":["Perineuriom, malignes"],"definition":"Der maligne periphere Nervenscheidentumor mit perineurialer Differenzierung ist ein seltenes Weichteilsarkom, das überwiegend aus spindelförmigen neoplastischen Zellen mit perineurialer Differenzierung besteht und reichlich zellulären Pleomorphismus oder Anaplasie, häufige Mitosen, Tumornekrose und hohes metastatisches Potenzial aufweist. Es präsentiert sich oft als weiche, schmerzlose, solide Masse im subkutanen Gewebe des Rumpfes oder der Gliedmaßen, aber es wurden auch Tumore im Gesichtsbereich, Mediastinum, Retroperitoneum, Pankreas, paravertebraler Säule und den Beckenweichteilen beschrieben. Es wurde über häufige Lokalrezidive und Fernmetastasenausbreitung berichtet."},"es":{"name":"Tumor maligno de vaina de los nervios periféricos con diferenciación perineural","synonyms":["Perineurioma maligno"],"definition":"El tumor maligno de vaina de nervio periférico con diferenciación perineural es un sarcoma de tejido blando poco frecuente, compuesto predominantemente por células neoplásicas fusiformes con diferenciación perineural que presentan abundante pleomorfismo celular o anaplasia, mitosis frecuentes, necrosis tumoral y elevado potencial metastásico. A menudo, se presenta como una masa sólida blanda e indolora en tejidos subcutáneos del tronco o extremidades, pero también se han descrito tumores en la zona facial, el mediastino, el retroperitoneo, el páncreas, la columna paravertebral y en tejidos blandos de la pelvis. Se han descrito con frecuencia recurrencias locales y diseminación metastásica a distancia."},"it":{"name":"Tumore maligno della guaina dei nervi periferici a differenziazione perineurale","definition":"Il tumore maligno della guaina dei nervi periferici a differenziazione perineurale è un sarcoma raro dei tessuti molli, composto per lo più da cellule neoplastiche fusiformi che presentano una differenziazione perineurale, con abbondante pleomorfismo o anaplasia cellulare, numerose mitosi, necrosi tumorale e un elevato potenziale metastatico. Di solito esordisce come massa solida morbida e indolore, localizzata nel tessuto sottocutaneo del tronco o degli arti; sono state descritti anche altre localizzazioni al volto, nel mediastino, nel retroperitoneo, nel pancreas, nella colonna vertebrale e nel tessuto molle pelvico. Sono stati descritti numerosi casi di ricorrenza locale e di disseminazione metastatica."},"nl":{"name":"Maligne tumor van perifere zenuwschede met perineuriale differentiatie","synonyms":["Kwaadaardig perineurioom","Maligne perineurioom"],"definition":"Maligne perifere zenuwschedetumor met perineuriale differentiatie is een zeldzaam wekedelensarcoom dat voornamelijk bestaat uit spoelvormige neoplastische cellen die perineuriale differentiatie vertonen, alsook overvloedig cellulair pleomorfisme of anaplasie, frequente mitose, tumornecrose en een hoog metastatisch potentieel. Het manifesteert zich vaak als een zachte, pijnloze, stevige massa in onderhuidse weefsels van de romp of de ledematen, maar er werden ook tumoren beschreven in het gelaat, het mediastinum, het retroperitoneum, de pancreas, de paravertebrale kolom en weke delen van het bekken. Frequente lokale terugkeer en metastatische uitzaaiing naar andere locaties werden gerapporteerd."},"pt":{"name":"Perineurioma maligno"},"pl":{"name":"Onerwiak złośliwy","synonyms":["Malignant perineurioma"]},"cs":{"name":"Maligní perineuriom","synonyms":["Malignant perineurioma"]},"uk":{"name":"Злоякісна пухлина оболонки периферичного нерва з периневральним диференціюванням","synonyms":["Злоякісна периневрома"],"definition":"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."},"zh":{"name":"恶性周围神经鞘肿瘤伴神经束膜分化","synonyms":["恶性神经束膜瘤"],"definition":"恶性周围神经鞘膜瘤伴神经外膜分化是一种少见的软组织肉瘤，主要由呈梭形的肿瘤细胞组成，表现出神经周围分化和丰富的细胞多形性或间变性，常有核分裂，肿瘤坏死和高转移潜能。它通常表现为躯干或四肢皮下组织中柔软、无痛的固体肿块，但面部、纵隔、腹膜后、胰腺、椎旁柱和骨盆软组织也有肿瘤。经常有局部复发和远处转移的报道。"},"tr":{"name":"Perinöral farklılaşma ile seyreden habis periferik sinir kılıfı tümörü","synonyms":["Habis perinöryoma"]}},"xrefs":[{"source":"ICD-10","code":"C47.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2C41","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"986576766"},{"source":"MONDO","code":"0016751","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1266188","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":3148,"name":"Malignant peripheral nerve sheath tumor","classifications":[181,202]}],"children":[],"genes":[{"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"]},{"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"]}],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}