{"orpha":209916,"name":"Extraskeletal myxoid chondrosarcoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare soft tissue sarcoma characterized by a lesion in the deep soft tissues of the proximal extremities and limb girdles, composed of malignant chondroblast-like cells arranged in cords, clusters, or networks, and an abundant myxoid matrix. The tumor is typically encased by a pseudocapsule and divided into multiple nodules by fibrous septa. Patients present with a soft tissue mass which can be painful and may ulcerate the skin or restrict range of motion if located next to joints. Despite prolonged survival, local recurrence and metastasis are frequent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-209916/","orphanet_url":"https://www.orpha.net/en/disease/detail/209916","names":{"fr":{"name":"Chondrosarcome myxoïde extrasquelettique","definition":"Sarcome rare des tissus mous caractérisé par une tumeur des tissus mous profonds des muscles proximaux des membres et des ceintures, composée de cellules malignes de type chondroblastique disposées en cordons, en grappes ou en réseaux, et d'une matrice myxoïde abondante. La tumeur est généralement entourée d'une pseudocapsule et divisée en plusieurs nodules par des septa fibreux. Les patients manifestent une masse de tissu mou qui peut être douloureuse et peut ulcérer la peau ou limiter l'amplitude des mouvements si elle est située près des articulations. Malgré une survie prolongée, les récidives locales et les métastases sont fréquentes."},"de":{"name":"Chondrosarkom, extraskelettales myxoides","definition":"Ein seltenes Weichteilsarkom, das durch eine Läsion in den tiefen Weichteilen der proximalen Extremitäten und Gliedmaßengürtel gekennzeichnet ist und aus malignen chondroblastenähnlichen Zellen, die in Strängen, Clustern oder Netzwerken angeordnet sind, und einer reichlich vorhandenen myxoiden Matrix besteht. Der Tumor ist typischerweise von einer Pseudokapsel umhüllt und durch fibröse Septen in mehrere Knoten unterteilt. Die Patienten stellen sich mit einer Gewebeverdichtung vor, die schmerzhaft sein kann und zu Ulzerationen der Haut oder Bewegungseinschränkungen führen kann, wenn sie in der Nähe von Gelenken liegt. Trotz längerer Überlebensdauer sind Lokalrezidive und Metastasen häufig."},"es":{"name":"Condrosarcoma mixoide extraesquelético","definition":"Es un sarcoma de tejidos blandos poco frecuente caracterizado por una lesión en los tejidos blandos profundos de la parte proximal de las extremidades y las cinturas, compuesto por células malignas similares a los condroblastos, dispuestas en cordones, grupos o redes, con una abundante matriz mixoide. Típicamente, el tumor está envuelto por una pseudo-cápsula, dividiéndose en múltiples nódulos por unos tabiques fibrosos. Los pacientes se presentan con una masa de partes blandas que puede ser dolorosa, capaz de ulcerar la piel o restringir el rango de movilidad si se localiza cerca de las articulaciones. A pesar de la supervivencia prolongada, son frecuentes las recidivas locales y las metástasis."},"it":{"name":"Condrosarcoma mixoide extrascheletrico","definition":"Si tratta di un sarcoma raro dei tessuti molli, caratterizzato da una lesione a livello del tessuto molle profondo della porzione prossimale degli arti e dei cingoli, composta da cellule maligne simili ai condroblasti, organizzate in cordoni, gruppi o reti, e da un'abbondante matrice mixoide. Di solito il tumore è racchiuso in una pseudocapsula e suddiviso in diversi noduli da setti fibrosi. I pazienti presentano una massa a livello dei tessuti molli, che può essere dolorosa e causare l'ulcerazione della cute o una limitazione del movimento quando è localizzata in prossimità delle articolazioni. La sopravvivenza è prolungata, ma sono frequenti le recidive locali e le metastasi."},"nl":{"name":"Extraskeletaal myxoïd chondrosarcoom","definition":"Een zeldzaam wekedelensarcoom, gekarakteriseerd door een laesie in diepe weke delen van proximale ledematen en ledemaatgordels, bestaande uit maligne chondroblast-achtige cellen gerangschikt in strengen, clusters, of netwerken, en een overvloedige myxoïde matrix. De tumor is doorgaans ingekapseld in een pseudocapsule en onderverdeeld in multipele noduli door fibreuze septa. Patiënten vertonen een massa in weke delen die pijnlijk kan zijn en ulceratie van huid kan veroorzaken, of die, indien gelokaliseerd naast gewrichten, het bewegingsbereik kan beperken. Ondanks lange overleving treden vaak lokale recidive en metastase op."},"pt":{"name":"Condrossarcoma mixóide extra-esquelético"},"pl":{"name":"Chrzęstniakomięsak śluzowy pozaszkieletowy"},"cs":{"name":"Extraskeletální myxoidní chondrosarkom"},"uk":{"name":"Позакісткова міксоїдна хондросаркома","definition":"A rare soft tissue sarcoma characterized by a lesion in the deep soft tissues of the proximal extremities and limb girdles, composed of malignant chondroblast-like cells arranged in cords, clusters, or networks, and an abundant myxoid matrix. The tumor is typically encased by a pseudocapsule and divided into multiple nodules by fibrous septa. Patients present with a soft tissue mass which can be painful and may ulcerate the skin or restrict range of motion if located next to joints. Despite prolonged survival, local recurrence and metastasis are frequent."},"zh":{"name":"骨外黏液样软骨肉瘤","definition":"骨外黏液样软骨肉瘤是一种罕见的软组织肉瘤，其主要临床表现为四肢近端和肢带肌的深部软组织病变，由排列成索状、簇状或网状的恶性成软骨细胞样细胞和丰富的黏液样基质组成。肿瘤通常被假包膜包裹，并被纤维间隔分为多个结节。患者出现软组织肿块，可伴有疼痛，皮肤溃疡，如病变位于关节附近可出现活动受限。该病常出现复发和转移，但生存期较长。"},"tr":{"name":"Ekstraskeletal miksoid kondrosarkom"}},"xrefs":[{"source":"OMIM","code":"612237","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C49.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B50.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"782606527"},{"source":"MONDO","code":"0012825","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563195","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1275278","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10073134","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]}],"children":[],"genes":[{"symbol":"EWSR1","name":"EWS RNA binding protein 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"18855877[PMID]","hgnc":"3508","ensembl":"ENSG00000182944","omim":"133450","loci":["22q12.2"]},{"symbol":"NR4A3","name":"nuclear receptor subfamily 4 group A member 3","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"18855877[PMID]","hgnc":"7982","ensembl":"ENSG00000119508","omim":"600542","loci":["9q31.1"]},{"symbol":"TAF15","name":"TATA-box binding protein associated factor 15","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"18330903[PMID]","hgnc":"11547","ensembl":"ENSG00000270647","omim":"601574","loci":["17q12"]},{"symbol":"TCF12","name":"transcription factor 12","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"11156374[PMID]","hgnc":"11623","ensembl":"ENSG00000140262","omim":"600480","loci":["15q21.3"]},{"symbol":"TFG","name":"trafficking from ER to golgi regulator","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"22581839[PMID]","hgnc":"11758","ensembl":"ENSG00000114354","omim":"602498","loci":["3q12.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}