{"orpha":157791,"name":"Epithelioid hemangioendothelioma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EHE"],"definition":"A rare vascular tumor characterized by a wide clinical variability ranging from indolent to locally aggressive behavior with a high metastatic potential. The tumor may arise anywhere in the body, most commonly in the lungs, liver and bones. Histologically, it is composed of epithelioid endothelial cells arranged in short cords and nests in a myxohyaline stroma, and molecularly, it is characterized by <i>WWTR1-CAMTA1</i> (approximately 90%) or <i>YAP1-TFE3</i> (approximately 10%) gene fusions. Rarely, other fusion genes are found.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-157791/","orphanet_url":"https://www.orpha.net/en/disease/detail/157791","names":{"fr":{"name":"Hémangioendothéliome épithélioïde","synonyms":["EHE"],"definition":"Tumeur vasculaire rare se caractérisant par une grande variabilité clinique, allant d'indolente à localement agressive, avec un fort potentiel métastatique. La tumeur peut se développer à tout endroit du corps, mais elle touche le plus souvent les poumons, le foie et les os. Sur le plan histologique, la tumeur est constituée de cellules endothéliales épithélioïdes disposées en cordons courts et en nids disséminées dans un stroma myxohyalin, et sur le plan moléculaire, elle se caractérise par des fusions des gènes <i>WWTR1</i> et <i>CAMTA1</i> (environ 90&nbsp;%) ou <i>YAP1</i>-<i>TFE3</i> (environ 10&nbsp;%). On observe rarement des fusions d'autres gènes."},"de":{"name":"Hämangioendotheliom, epitheloides","synonyms":["EHE"],"definition":"Ein seltener vaskulärer Tumor, der durch eine solitäre Läsion im oberflächlichen oder tiefen Weichteilgewebe der Extremitäten gekennzeichnet ist und meist von einer kleinen Vene als fusiforme intravaskuläre Gewebeverdichtung ausgeht, die auch das umliegende Gewebe infiltriert. Es besteht aus epitheloiden Endothelzellen, die in kurzen Strängen und Nestern in einem myxohyalinen Stroma angeordnet sind. Die Patienten stellen sich mit einem oft schmerzhaften Knoten vor, der mit Ödemen oder Thrombophlebitis einhergehen kann. Beim klassischen epitheloiden Hämangioendotheliom ohne atypische histologische Merkmale sind Metastasierungsrate und Mortalitätsrate gering."},"es":{"name":"Hemangioendotelioma epitelioide","synonyms":["HEE"],"definition":"Es un tumor vascular poco frecuente caracterizado por una lesión única en el tejido blando superficial o profundo de las extremidades, originándose, con mayor frecuencia, a partir de una vena pequeña como una masa intravascular fusiforme, infiltrando también en los tejidos circundantes. Está compuesto por células endoteliales epitelioides dispuestas en cordones cortos y nidos en un estroma mixohialino. Los pacientes se presentan con un nódulo, a menudo doloroso, que puede asociar edema o tromboflebitis. En el hemangioendotelioma epitelioide clásico, que carece de hallazgos histológicos atípicos, las tasas de metástasis y la mortalidad son bajas."},"it":{"name":"Emangioendotelioma epitelioide","definition":"Si tratta di un tumore vascolare raro, caratterizzato da una lesione isolata a livello dei tessuti molli superficiali o profondi degli arti, che origina per lo più da una piccola vena sotto forma di massa intravascolare fusiforme che infiltra anche i tessuti circostanti. È composto da cellule endoteliali epitelioidi organizzate in cordoni corti e in nidi, in uno stroma mixoialino. I pazienti presentano un nodulo, spesso doloroso, che può associarsi a edema o a tromboflebite. Nell'emangioendotelioma epitelioide classico senza caratteristiche istologiche atipiche il tasso di metastasi e la mortalità sono bassi."},"nl":{"name":"Epithelioïd hemangio-endothelioom","synonyms":["EHE"],"definition":"Een zeldzame vasculaire tumor, gekarakteriseerd door een solitaire laesie in oppervlakkige of diepe weke delen van ledematen, doorgaans ontstaan uit een kleine ader als een fusiforme intravasculaire massa die ook omringende weefsels infiltreert. De tumor bestaat uit epithelioïde endotheelcellen gerangschikt in korte strengen en nesten in een myxohyalien stroma. Patiënten presenteren zich met een vaak pijnlijke nodulus die kan geassocieerd zijn met oedeem of tromboflebitis. Bij klassiek epithelioïd hemangio-endothelioom zonder atypische histologische kenmerken zijn de percentages van metastase en mortaliteit laag."},"pt":{"name":"Hemangioendotelioma epitelióide","synonyms":["EHE"]},"pl":{"name":"Śródbłoniak krwionośny nabłonkowaty","synonyms":["EHE"]},"cs":{"name":"Epiteloidní hemangioendoteliom","synonyms":["EHE"]},"uk":{"name":"Епітеліоїдна гемангіоендотеліома","definition":"A rare vascular tumor characterized by a solitary lesion in the superficial or deep soft tissue of the extremities, most often originating from a small vein as a fusiform intravascular mass also infiltrating surrounding tissues. It is composed of epithelioid endothelial cells arranged in short cords and nests in a myxohyaline stroma. Patients present with an often painful nodule which may be associated with edema or thrombophlebitis. In classic epithelioid hemangioendothelioma lacking atypical histological features metastatic rate and mortality are low."},"zh":{"name":"上皮样血管内皮瘤","definition":"一种罕见的血管肿瘤，其特征是四肢浅表或深层软组织中有一个孤立性病变，常起源于一个小静脉，形成一个梭形血管内肿块，并浸润周围组织。由排列成短索状的上皮样内皮细胞和粘透明基质中的巢状结构组成。患者常表现为疼痛结节，可能伴有水肿或血栓性静脉炎。典型的上皮样血管内皮瘤缺乏非典型组织学特征，转移率和死亡率较低。"},"tr":{"name":"Epiteloid hemanjioendotelyoma"}},"xrefs":[{"source":"ICD-10","code":"D48.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B5Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1970187101"},{"source":"ICD-11","code":"XH9GF8","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1014962038"},{"source":"MONDO","code":"0015523","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D018323","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0206732","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":673466,"name":"Malignant vascular tumor","classifications":[147,198,202]},{"orpha":459543,"name":"Rare genetic vascular tumor","classifications":[156]}],"children":[],"genes":[{"symbol":"CAMTA1","name":"calmodulin binding transcription activator 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"24986479[PMID]","hgnc":"18806","ensembl":"ENSG00000171735","omim":"611501","loci":["1p36.31-p36.23"]},{"symbol":"TFE3","name":"transcription factor binding to IGHM enhancer 3","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"24986479[PMID]","hgnc":"11752","ensembl":"ENSG00000068323","omim":"314310","loci":["Xp11.23"]},{"symbol":"WWTR1","name":"WW domain containing transcription regulator 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"24986479[PMID]","hgnc":"24042","ensembl":"ENSG00000018408","omim":"607392","loci":["3q25.1"]},{"symbol":"YAP1","name":"Yes1 associated transcriptional regulator","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"24986479[PMID]","hgnc":"16262","ensembl":"ENSG00000137693","omim":"606608","loci":["11q22.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"34090171[PMID]"}],"phenotypes":null}