{"orpha":370334,"name":"Extraskeletal Ewing sarcoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EOE","Extraosseous Ewing sarcoma","Extraosseous Ewing tumor","Extraskeletal Ewing tumor"],"definition":"Extraskeletal Ewing sarcoma is a rare, poorly differentiated, highly malignant, soft tissue tumor, derived from neuroectoderm, that is morphologically indistinguishable from skeletal Ewing sarcoma but is located in extraosseous locations, with the most common being: chest wall, paravertebral region, abdominopelvic area (with predilection for the retroperitoneal space), gluteal region and lower extremities. Clinical presentation is highly variable and depends on tumor localization. Local recurrence is common and metastatic disease most frequently involves the bones and lungs.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-370334/","orphanet_url":"https://www.orpha.net/en/disease/detail/370334","names":{"fr":{"name":"Sarcome d'Ewing extrasquelettique","synonyms":["EOE","Sarcome d'Ewing extraosseux"],"definition":"Tumeur rare des tissus mous, peu différenciée et très maligne, dérivée du neuroectoderme, qui ne peut être distinguée du sarcome d'Ewing squelettique d'un point de vue morphologique mais dont la localisation est extrasquelettique, touchant le plus souvent la paroi thoracique, la région paravertébrale et abdominopelvienne (avec une prédilection pour l'espace rétropéritonéal), la région glutéale et les extrémités inférieures. La présentation clinique est très variable et dépend de la localisation de la tumeur. Les récidives locales sont fréquentes et les métastases se situent le plus souvent dans les poumons et les os."},"de":{"name":"Extraskelettales Ewing-Sarkom","synonyms":["EOE","Extraossäres Ewing-Sarkom","Extraskelettaler Ewing-Tumor"]},"es":{"name":"Sarcoma de Ewing extraesquelético","synonyms":["Sarcoma de Ewing extraóseo","Tumor de Ewing extraesquelético","Tumor de Ewing extraóseo"],"definition":"Es un tumor de tejidos blandos, poco frecuente, altamente maligno y pobremente diferenciado, derivado del neuroectodermo. Morfológicamente, es indistinguible del sarcoma de Ewing esquelético pero se encuentra localizado en lugares extraóseos, siendo los más comunes la pared torácica, la región paravertebral, la zona abdominopélvica (con predilección por el espacio retroperitoneal), la región glútea y las extremidades inferiores. La presentación clínica es muy variable y depende de la localización del tumor. La recurrencia local es común y la enfermedad metastásica afecta con más frecuencia a huesos y pulmones."},"it":{"name":"Sarcoma extra-scheletrico di Ewing","synonyms":["EOE","Sarcoma extra-osseo di Ewing","Tumore extra-osseo di Ewing","Tumore extra-scheletrico di Ewing"],"definition":"Il sarcoma extrascheletrico di Ewing è un tumore raro dei tessuti molli, scarsamente differenziato e altamente maligno, di origine neuroectodermica, non distinguibile, dal punto di vista morfologico, dal sarcoma scheletrico di Ewing, dal quale si differenzia tuttavia per le localizzazioni extraossee, in particolare la parete toracica, la regione paravertebrale, addominale e pelvica (soprattutto lo spazio retroperitoneale), i glutei e gli arti inferiori. Il quadro clinico è molto variabile e dipende dalla localizzazione del tumore. Spesso si osserva una recidiva locale; le metastasi interessano prevalentemente le ossa e i polmoni."},"nl":{"name":"Extraskeletaal Ewing-sarcoom","synonyms":["EOE","Extraossaal Ewing-sarcoom","Extraossale Ewing-tumor","Extraskeletale Ewing-tumor"],"definition":"Extraskeletaal Ewingsarcoom is een zeldzame, slecht gedifferentieerde, zeer maligne tumor van weke delen, die is afgeleid van neuroectoderm, en die morfologisch niet te onderscheiden valt van skeletaal Ewingsarcoom, maar gesitueerd is op extraosseuze locaties, met als meest gangbare de borstwand, de paravertebrale regio, de abdominopelviene streek (met een voorkeur voor de retroperitoneale ruimte), de bilstreek en de onderste ledematen. Het klinisch beeld is zeer variabel en hangt af van de lokalisatie van de tumor. Lokale terugkeer komt geregeld voor en metastatische ziekte treft het vaakst de botten en longen."},"pt":{"name":"Sarcoma de Ewing extra-esquelético"},"pl":{"name":"Pozaszkieletowy mięsak Ewinga","synonyms":["EOE","Pozakostny guz Ewinga","Pozakostny mięsak Ewinga","Pozaszkieletowy guz Ewinga"],"definition":"*Pozakostny mięsak Ewinga jest rzadkim, słabo zróżnicowanym, wysoce złośliwym guzem tkanek miękkich, wywodzącym się z neuroektodermy, który morfologicznie jest nie do odróżnienia od mięsaka kostnego Ewinga i który zlokalizowany jest w okolicach pozakostnych, najczęściej są to: ściana klatki piersiowej, okolica przykręgosłupowa, brzuch i miednica (ze skłonnością do lokalizacji w przestrzeni zaotrzewnowej), pośladki i kończyny dolne. Obraz kliniczny jest bardzo zmienny i zależy od lokalizacji guza. Wznowy miejscowe są częste, a przerzuty najczęściej występują w kościach i płucach.inf brsup inf brsup"},"cs":{"name":"Extraoseální Ewingův sarkom","synonyms":["EOE","Extraoseální Ewingův nádor"]},"uk":{"name":"Позаскелетна саркома Юінга","synonyms":["EOE","Позакісткова саркома Юінга","Позакісткова пухлина Юінга","Екстраскелетна пухлина Юінга"],"definition":"Extraskeletal Ewing sarcoma is a rare, poorly differentiated, highly malignant, soft tissue tumor, derived from neuroectoderm, that is morphologically indistinguishable from skeletal Ewing sarcoma but is located in extraosseous locations, with the most common being: chest wall, paravertebral region, abdominopelvic area (with predilection for the retroperitoneal space), gluteal region and lower extremities. Clinical presentation is highly variable and depends on tumor localization. Local recurrence is common and metastatic disease most frequently involves the bones and lungs."},"zh":{"name":"骨外尤因肉瘤","synonyms":["骨外尤因肉瘤"],"definition":"骨外尤因肉瘤是一种罕见、低分化、高度恶性的软组织肿瘤，起源于神经外胚层，在形态上与骨尤因肉瘤难以区分，但本病位于骨外，最常见的部位是：胸壁、椎旁、腹盆部(好发于腹膜后间隙)、臀部和下肢。本病的临床表现多种多样，取决于肿瘤的部位。局部复发常见,转移常见于骨和肺。"},"tr":{"name":"Ekstraskeletal Ewing sarkomu","synonyms":["EOE","Ekstraosseöz Ewing tümörü","Ekstraskeletal Ewing tümörü","Ekstraosseöz Ewing sarkomu"]}},"xrefs":[{"source":"OMIM","code":"612219","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C49.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B52.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"489162074"},{"source":"MONDO","code":"0018270","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0279980","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10015759","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":506219,"name":"Rare disorder potentially indicated for hematopoietic stem cell transplant","classifications":[233]},{"orpha":3394,"name":"Soft tissue sarcoma","classifications":[202]}],"children":[],"genes":[{"symbol":"ERG","name":"ETS transcription factor ERG","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"11823984[PMID]","hgnc":"3446","ensembl":"ENSG00000157554","omim":"165080","loci":["21q22.2"]},{"symbol":"EWSR1","name":"EWS RNA binding protein 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"21113140[PMID]","hgnc":"3508","ensembl":"ENSG00000182944","omim":"133450","loci":["22q12.2"]},{"symbol":"FLI1","name":"Fli-1 proto-oncogene, ETS transcription factor","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"9072004[PMID]_18769338[PMID]_16517542[PMID]_11570916[PMID]","hgnc":"3749","ensembl":"ENSG00000151702","omim":"193067","loci":["11q24.3"]},{"symbol":"SMARCA5","name":"SNF2 related chromatin remodeling ATPase 5","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"21113140[PMID]","hgnc":"11101","ensembl":"ENSG00000153147","omim":"603375","loci":["4q31.21"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.077,"area":"Austria","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.056,"area":"Belgium","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.01,"area":"Bulgaria","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.023,"area":"Croatia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.052,"area":"Czech Republic","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.083,"area":"Estonia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.071,"area":"Germany","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.055,"area":"Ireland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.068,"area":"Italy","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.043,"area":"Latvia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.05,"area":"Lithuania","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.076,"area":"Norway","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.018,"area":"Poland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.092,"area":"Portugal","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.081,"area":"Slovenia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.087,"area":"Spain","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.056,"area":"Switzerland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.089,"area":"Netherlands","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.058,"area":"United Kingdom","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.112,"area":"Finland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.126,"area":"Malta","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.106,"area":"Slovakia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":null}