{"orpha":293199,"name":"Pleomorphic rhabdomyosarcoma","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare soft tissue sarcoma characterized by a high-grade lesion occurring almost exclusively in adults, composed of bizarre polygonal, round, and spindle cells with evidence of skeletal muscle differentiation. Patients usually present with a rapidly growing, painful mass located in the deep soft tissues of the extremities, but also other anatomic regions. Prognosis is generally poor.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-293199/","orphanet_url":"https://www.orpha.net/en/disease/detail/293199","names":{"fr":{"name":"Rhabdomyosarcome pléomorphe","definition":"Sarcome rare des tissus mous caractérisé par une lésion de haut grade survenant presque exclusivement chez les adultes, composée de cellules polygonales, sphériques et fusiformes non caractérisées avec des signes de différenciation des muscles squelettiques. Généralement on observe chez les patients une tumeur douloureuse à croissance rapide, localisée dans les tissus mous profonds des membres, mais aussi dans d'autres régions anatomiques. Le pronostic est généralement réservé."},"de":{"name":"Rhabdomyosarkom, pleomorphes","definition":"Ein seltenes Weichteilsarkom, das durch eine hochgradige Läsion gekennzeichnet ist, die fast ausschließlich bei Erwachsenen auftritt und aus bizarren polygonalen, runden und spindelförmigen Zellen mit Anzeichen einer Skelettmuskeldifferenzierung besteht. Die Patienten stellen sich in der Regel mit einer schnell wachsenden, schmerzhaften Gewebeverdichtung vor, die sich in den tiefen Weichteilen der Extremitäten, aber auch in anderen anatomischen Regionen befindet. Die Prognose ist im Allgemeinen schlecht."},"es":{"name":"Rabdomiosarcoma pleomórfico","definition":"Es un sarcoma de tejidos blandos poco frecuente caracterizado por una lesión de alto grado que afecta casi exclusivamente a adultos, compuesta por células aberrantes, poligonales, redondas y fusiformes con una evidente diferenciación a músculo esquelético. Los pacientes se suelen presentar con una masa dolorosa de crecimiento rápido localizada en los tejidos blandos profundos de las extremidades, pudiendo aparecer también en otras regiones anatómicas. Por lo general, el pronóstico es desfavorable."},"it":{"name":"Rabdomiosarcoma pleomorfo","definition":"Si tratta di un sarcoma raro dei tessuti molli, caratterizzato da una lesione di grado elevato che colpisce quasi esclusivamente gli adulti ed è composta da cellule anomale di forma poligonale, arrotondata e fusiforme, con differenziazione muscolare liscia. Di solito i pazienti presentano una massa dolorosa che cresce rapidamente, localizzata nel tessuto molle profondo degli arti o di altre regioni anatomiche. Di solito la prognosi è sfavorevole."},"nl":{"name":"Pleomorf rhabdomyosarcoom","synonyms":["Pleiomorf rhabdomyosarcoom"],"definition":"Een zeldzaam wekedelensarcoom, gekarakteriseerd door een hooggradige laesie die bijna uitsluitend voorkomt bij volwassenen, bestaande uit bizarre polygonale, ronde, en spoelvormige cellen met bewijs van differentiatie tot skeletspier. Patiënten vertonen meestal een snel groeiende, pijnlijke massa gesitueerd in diepe weke delen van ledematen, maar ook in andere anatomische gebieden. De prognose is doorgaans slecht."},"pt":{"name":"Rabdomiossarcoma pleomórfico"},"pl":{"name":"pleomorficzny mięsak prążkowanokomórkowy"},"cs":{"name":"Pleomorfní rhabdomyosarkom"},"uk":{"name":"Плеоморфна рабдоміосаркома","definition":"A rare soft tissue sarcoma characterized by a high-grade lesion occurring almost exclusively in adults, composed of bizarre polygonal, round, and spindle cells with evidence of skeletal muscle differentiation. Patients usually present with a rapidly growing, painful mass located in the deep soft tissues of the extremities, but also other anatomic regions. Prognosis is generally poor."},"zh":{"name":"多形性横纹肌肉瘤","definition":"一种罕见的软组织肉瘤，其特征是几乎只在成人发病的高度病变，由奇异的多边形、圆形和梭形细胞组成，伴平滑肌分化。患者常表现为四肢深部软组织和其他解剖部位快速生长的疼痛性肿块。预后一般较差。"},"tr":{"name":"Pleomorfik rabdomyosarkom"}},"xrefs":[{"source":"ICD-10","code":"C49.9","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"MONDO","code":"0017386","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0334480","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":780,"name":"Rhabdomyosarcoma","classifications":[181,202]}],"children":[],"genes":[{"symbol":"TP53","name":"tumor protein p53","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"7706467[PMID]","hgnc":"11998","ensembl":"ENSG00000141510","omim":"191170","loci":["17p13.1"]},{"symbol":"NF1","name":"neurofibromin 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"34166060[PMID]","hgnc":"7765","ensembl":"ENSG00000196712","omim":"613113","loci":["17q11.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Elderly","Infancy"],"prevalence":[{"type":"Annual incidence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe 2011[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}