{"orpha":97338,"name":"Melanoma of soft tissue","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Clear cell sarcoma of the tendons and aponeuroses"],"definition":"A rare soft tissue tumor characterized by a slowly growing mass typically involving tendons and aponeuroses of the extremities, composed of polygonal or spindle-shaped cells with melanocytic differentiation. The tumor typically affects young adults, who often present with pain or tenderness at the tumor site. Prognosis is poor with high recurrence rates and frequent metastasis, especially to lymph nodes, lung, and bones.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97338/","orphanet_url":"https://www.orpha.net/en/disease/detail/97338","names":{"fr":{"name":"Mélanome des tissus mous","synonyms":["Mélanome des parties molles","Sarcome des tissus mous à cellules claires","Sarcome à cellules claires des tendons et des aponévroses"],"definition":"Tumeur rare des tissus mous caractérisée par une masse à croissance lente, se développant généralement sur les tendons et les aponévroses des membres, composée de cellules polygonales ou fusiformes à différenciation mélanocytaire. La tumeur est généralement observée chez les jeunes adultes, se plaignant souvent d'une douleur ou d'une sensibilité dans la région de la tumeur. Le pronostic est réservé, les taux de récidive élevés et les métastases fréquentes, atteignant notamment les ganglions lymphatiques, les poumons et les os."},"de":{"name":"Melanom der Weichteile","synonyms":["Klarzellsarkom der Sehnen und Aponeurosen"],"definition":"Ein seltener Weichteiltumor, der durch eine langsam wachsende Gewebeverdichtung gekennzeichnet ist, die typischerweise Sehnen und Aponeurosen der Extremitäten befällt und aus polygonalen oder spindelförmigen Zellen mit melanozytärer Differenzierung besteht. Der Tumor betrifft in der Regel junge Erwachsene, die häufig mit Schmerzen oder Empfindlichkeit an der Tumorstelle auftreten. Die Prognose ist schlecht mit hohen Rezidivraten und häufiger Metastasierung, insbesondere in Lymphknoten, Lunge und Knochen."},"es":{"name":"Melanoma de partes blandas","synonyms":["Melanoma de tejidos blandos","Sarcoma de células claras de tendones y aponeurosis"],"definition":"Es un tumor de tejidos blandos poco frecuente caracterizado por una masa de crecimiento lento que afecta típicamente a los tendones y a las aponeurosis de las extremidades, compuesto por células poligonales o fusiformes con diferenciación melanocítica. Por lo general, el tumor afecta a adultos jóvenes, que a menudo se presentan con dolor o sensibilidad en la localización del tumor. El pronóstico es desfavorable, con unas elevadas tasas de recurrencia y de metástasis, especialmente en los ganglios linfáticos, los pulmones y los huesos."},"it":{"name":"Melanoma dei tessuti molli","synonyms":["Melanoma dei tessuti molli","Sarcoma a cellule chiare dei tendini e delle aponeurosi","Sarcoma a cellule chiare dei tessuti molli"],"definition":"Si tratta di un tumore raro dei tessuti molli, caratterizzato da una massa a crescita lenta, che di solito interessa i tendini e le aponeurosi degli arti, composta da cellule poligonali o fusiformi con differenziazione melanocitica. In genere interessa i giovani adulti, che spesso presentano dolore o sensibilità nella zona in cui si localizza il tumore. La prognosi è sfavorevole, con tassi elevati di recidiva e metastasi frequenti, soprattutto ai linfonodi, ai polmoni e alle ossa."},"nl":{"name":"Melanoom van weke delen","synonyms":["Heldercellig sarcoom van pezen en aponeurosen"],"definition":"Een zeldzame tumor van weke delen, gekarakteriseerd door een traaggroeiende massa die doorgaans pezen en aponeurosen van ledematen treft en bestaat uit polygonale of spoelvormige cellen met melanocytaire differentiatie. De tumor treft doorgaans jonge volwassenen die zich vaak presenteren met pijn of gevoeligheid ter hoogte van de locatie van de tumor. Prognose is slecht met hoge recidivepercentages en frequente metastase, vooral naar lymfeklieren, longen, en beenderen."},"pt":{"name":"Melanoma dos tecidos moles"},"pl":{"name":"Czerniak tkanek miękkich","synonyms":["Mięsak jasnokomórkowy ścięgien i powięzi","Mięsak jasnokomórkowy tkanek miękkich"]},"cs":{"name":"Melanom měkkých tkání","synonyms":["Světlobuněčný sarkom šlach a aponeuróz"]},"uk":{"name":"Меланома мяких тканин","synonyms":["Ясноклітинна саркома сухожиль та апоневрозів"],"definition":"A rare soft tissue tumor characterized by a slowly growing mass typically involving tendons and aponeuroses of the extremities, composed of polygonal or spindle-shaped cells with melanocytic differentiation. The tumor typically affects young adults, who often present with pain or tenderness at the tumor site. Prognosis is poor with high recurrence rates and frequent metastasis, especially to lymph nodes, lung, and bones."},"zh":{"name":"软组织恶性黑色素瘤","synonyms":["肌腱腱膜透明细胞肉瘤"],"definition":"一种罕见的软组织肿瘤，其特征是由具有黑色素细胞分化的多边形或梭形细胞组成的肿块，肿块生长缓慢，通常累及四肢肌腱和腱膜。该肿瘤通常发生在年轻人身上，通常在肿瘤部位出现疼痛或压痛。该病预后差，复发率高，常见转移，尤其是淋巴结、肺和骨转移。"},"tr":{"name":"Yumuşak doku melanomu","synonyms":["Tendonların ve aponevrozların temiz hücre sarkomu"]}},"xrefs":[{"source":"ICD-10","code":"C43.6","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C43.7","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019971","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0206651","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":71209,"name":"Rare soft tissue tumor","classifications":[202]}],"children":[],"genes":[{"symbol":"ATF1","name":"activating transcription factor 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"19561568[PMID]","hgnc":"783","ensembl":"ENSG00000123268","omim":"123803","loci":["12q13.12"]},{"symbol":"CREB1","name":"cAMP responsive element binding protein 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"19561568[PMID]","hgnc":"2345","ensembl":"ENSG00000118260","omim":"123810","loci":["2q33.3"]},{"symbol":"EWSR1","name":"EWS RNA binding protein 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"19561568[PMID]","hgnc":"3508","ensembl":"ENSG00000182944","omim":"133450","loci":["22q12.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.89,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}