{"orpha":2023,"name":"Undifferentiated pleomorphic sarcoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["UPS"],"definition":"An aggressive sarcoma of soft tissues or bone that can arise from any part of the body, clinically presenting as swelling, mass, pain, pathological fracture and occasional systemic features and is characterized by high local recurrence and significant metastasis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2023/","orphanet_url":"https://www.orpha.net/en/disease/detail/2023","names":{"fr":{"name":"Sarcome pléomorphe indifférencié","synonyms":["UPS"],"definition":"Le sarcome pléomorphe indifférencié (UPS) est un sarcome agressif des tissus mous ou de l'os pouvant affecter n'importe quelle partie du corps. Sur le plan clinique, il se présente par un gonflement, une masse, une douleur, une fracture pathologique et des signes systémiques occasionnels. Il se caractérise par une forte récurrence locale et une métastase significative."},"de":{"name":"Sarkom, undifferenziertes pleomorphes","synonyms":["Histiozytom, fibröses malignes"]},"es":{"name":"Sarcoma pleomórfico indiferenciado","definition":"Es un sarcoma agresivo de hueso o de tejidos blandos que puede originarse en cualquier localización anatómica. Clínicamente, se presenta con una masa acompañada de edema, dolor, fracturas patológicas y alteraciones sistémicas ocasionales. Está caracterizado por una elevada recurrencia local y significativa de metástasis."},"it":{"name":"Istiocitoma fibroso maligno"},"nl":{"name":"Ongedifferentieerd pleomorf sarcoom","synonyms":["Ongedifferentieerd pleiomorf sarcoom","UPS"],"definition":"Een agressief sarcoom van weke delen of bot dat kan voortkomen uit elk deel van het lichaam, klinisch tot uiting komt als zwelling, massa, pijn, pathologisch fractuur en occasionele systemische kenmerken, en gekarakteriseerd wordt door frequent lokaal recidief en significante metastase."},"pt":{"name":"Sarcoma pleiomórfico indiferenciado","synonyms":["UPS"]},"pl":{"name":"Guz histiocytarny włóknisty złośliwy","synonyms":["UPS"]},"cs":{"name":"Nediferencovaný pleomorfní sarkom","synonyms":["UPS"]},"uk":{"name":"Недиференційована плеоморфна саркома","synonyms":["UPS"],"definition":"An aggressive sarcoma of soft tissues or bone that can arise from any part of the body, clinically presenting as swelling, mass, pain, pathological fracture and occasional systemic features and is characterized by high local recurrence and significant metastasis."},"zh":{"name":"未分化多形性肉瘤","synonyms":["UPS"]},"tr":{"name":"Farklılaşmamış pleomorfik sarkom","synonyms":["UPS"]}},"xrefs":[{"source":"ICD-10","code":"C49.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0002142","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D051677","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0334463","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6963","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":293190,"name":"OBSOLETE: Pleomorphic undifferentiated sarcoma","status":"inactive"}],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":223727,"name":"Bone sarcoma","classifications":[199,202]},{"orpha":3394,"name":"Soft tissue sarcoma","classifications":[202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.9,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.9,"area":"United States","status":"Validated","source":"National Cancer OTHERitute[OTHER]_17013893[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-24","source":null,"terms":[{"hpo":"HP:0002814","label":"Abnormality of the lower limb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002585","label":"Abnormality of the peritoneum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030448","label":"Soft tissue sarcoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003011","label":"Abnormality of the musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002817","label":"Abnormality of the upper limb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null}]}}