{"orpha":79105,"name":"Myxofibrosarcoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Fibromyxosarcoma","Myxoid malignant fibrous histiocytoma"],"definition":"A rare soft tissue sarcoma characterized by a malignant, fibroblastic lesion with variably myxoid stroma, pleomorphism, and a distinctively curvilinear vascular pattern. The majority of tumors arise in the limbs including the limb girdles, more often in dermal/subcutaneous tissues than in the underlying fascia and skeletal muscle, and usually present as a slowly growing, painless mass. Depth of the lesion and tumor grade do not influence the high rate of local recurrence, while the percentage of metastasis and tumor-associated mortality are much higher in deep-seated and high-grade neoplasms.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79105/","orphanet_url":"https://www.orpha.net/en/disease/detail/79105","names":{"fr":{"name":"Myxofibrosarcome","synonyms":["Fibrohistiocytome myxoïde malin","Fibromyxosarcome"],"definition":"Sarcome rare des tissus mous caractérisé par une lésion maligne, fibroblastique, avec un stroma myxoïde variable, un pléomorphisme et un réseau vasculaire curviligne distinct. La majorité des tumeurs se développent dans les membres, incluant les ceintures, plus souvent dans les tissus dermiques/sous-cutanés que dans le fascia et les muscles squelettiques sous-jacents, et se présentent généralement sous la forme d'une masse indolore à croissance lente. La profondeur de la lésion et le grade de la tumeur sont sans lien avec le taux élevé de récidive locale, alors que le pourcentage de métastases et la mortalité associés à la tumeur sont beaucoup plus élevés lorsque les tumeurs sont profondes et de haut grade."},"de":{"name":"Myxofibrosarkom","synonyms":["Fibromyxosarkom","Histiozytom, fibröses malignes myxoides"],"definition":"Ein seltenes Weichteilsarkom, das durch eine maligne, fibroblastische Läsion mit variabel myxoidem Stroma, Pleomorphismus und einem ausgeprägt kurvilinearen Gefäßmuster gekennzeichnet ist. Die meisten Tumoren entstehen in den Gliedmaßen, einschließlich der Gürtel, häufiger im Haut-/Subkutangewebe als in den darunter liegenden Faszien und der Skelettmuskulatur, und treten in der Regel als langsam wachsende, schmerzlose Gewebeverdichtung auf. Die Tiefe der Läsion und der Tumorgrad haben keinen Einfluss auf die hohe Rate an Lokalrezidiven, während der Prozentsatz an Metastasen und die tumorassoziierte Mortalität bei tief sitzenden und hochgradigen Neoplasien wesentlich höher ist."},"es":{"name":"Mixofibrosarcoma","synonyms":["Histiocitoma fibroso maligno tipo mixoide"],"definition":"Es un sarcoma de tejidos blandos poco frecuente caracterizado por una lesión fibroblástica, maligna con un estroma mixoide variable, pleomorfismo y un patrón vascular curvilíneo distintivo. En la mayoría de los casos, el tumor se desarrolla en las extremidades, incluyendo la cintura escapular, con una mayor frecuencia en el tejido dérmico/subcutáneo que en la fascia subyacente y el músculo esquelético, presentándose, por lo general, como una masa indolora de crecimiento lento. La profundidad de la lesión y el grado del tumor no influyen en la elevada tasa de recurrencia local, mientras que el porcentaje de metástasis y la mortalidad asociada al tumor es mucho mayor en las neoplasias profundas y de alto grado."},"it":{"name":"Mixofibrosarcoma","synonyms":["Istiocitoma fibroso maligno mixoide"],"definition":"Si tratta di un sarcoma raro dei tessuti molli, caratterizzato da una lesione fibroblastica maligna con stroma mixoide variabile, pleomorfismo e una rete vascolare curvilinea. Origina per lo più dagli arti (compresi i cingoli), spesso dal derma e dal tessuto sottocutaneo, e più raramente dalla fascia sottostante e dai muscoli scheletrici. Di solito si manifesta come massa indolore a crescita lenta. La profondità della lesione e il grado del tumore non influenzato l'elevato tasso delle recidive locali, mentre il tasso delle metastasi e della mortalità correlata al tumore sono molto maggiori nelle neoplasie profonde e di grado elevato."},"nl":{"name":"Myxofibrosarcoom","synonyms":["Fibromyxosarcoom","Mixoïd maligne fibreus histiocytoom"],"definition":"Een zeldzaam wekedelensarcoom, gekarakteriseerd door een maligne, fibroblastische laesie met variabel myxoïd stroma, pleomorfisme, en een typisch curvilineair vasculair patroon. De meerderheid van tumoren ontstaat in ledematen, inclusief ledemaatgordels en vaker in dermale/subcutane weefsels dan in onderliggende fascie en skeletspier, en presenteert zich meestal als een traaggroeiende, pijnloze massa. Diepte van de laesie en graad van de tumor hebben geen invloed op de hoge mate van lokaal recidief, terwijl het percentage van metastase en tumorgeassocieerde mortaliteit veel hoger liggen bij diepliggende en hooggradige neoplasmata."},"pt":{"name":"Mixofibrosarcoma","synonyms":["Histiocitoma fibroso mixóide maligno"]},"pl":{"name":"Śluzakowłókniakomięsak","synonyms":["Śluzakowata złośliwa włóknista histiocytoma","Włókniakośluzakomięsak"]},"cs":{"name":"Myxofibrosarkom","synonyms":["Fibromyxosarkom","Myxoidní maligní fibrózní histiocytom"]},"uk":{"name":"Міксофібросаркома","synonyms":["Фіброміксосаркома","Міксоїдна злоякісна фіброзна гістіоцитома"],"definition":"A rare soft tissue sarcoma characterized by a malignant, fibroblastic lesion with variably myxoid stroma, pleomorphism, and a distinctively curvilinear vascular pattern. The majority of tumors arise in the limbs including the limb girdles, more often in dermal/subcutaneous tissues than in the underlying fascia and skeletal muscle, and usually present as a slowly growing, painless mass. Depth of the lesion and tumor grade do not influence the high rate of local recurrence, while the percentage of metastasis and tumor-associated mortality are much higher in deep-seated and high-grade neoplasms."},"zh":{"name":"粘液样纤维肉瘤","synonyms":["黏液样恶性纤维组织细胞瘤"]},"tr":{"name":"Miksofibromasarkom","synonyms":["Fibromiksosarkom","Miksoid habis fibröz histiyositoma"]}},"xrefs":[{"source":"ICD-10","code":"C49.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B53.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"405689402"},{"source":"MONDO","code":"0019202","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3714524","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10066948","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":206982,"name":"Muscular tumor","classifications":[181]},{"orpha":3394,"name":"Soft tissue sarcoma","classifications":[202]}],"children":[],"genes":[{"symbol":"CREB3L1","name":"cAMP responsive element binding protein 3 like 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":null,"hgnc":"18856","ensembl":"ENSG00000157613","omim":"616215","loci":["11p11.2"]},{"symbol":"CREB3L2","name":"cAMP responsive element binding protein 3 like 2","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":null,"hgnc":"23720","ensembl":"ENSG00000182158","omim":"608834","loci":["7q33"]},{"symbol":"FUS","name":"FUS RNA binding protein","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":null,"hgnc":"4010","ensembl":"ENSG00000089280","omim":"137070","loci":["16p11.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}