{"orpha":595133,"name":"Perivascular epithelioid cell neoplasm","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PEComa","Perivascular epithelioid tumour"],"definition":"A rare soft tissue tumor characterized by distinctive perivascular epitheloid cells, often arranged radially around a vascular lumen, as well as spindled cells in variable proportion. Melanocytic and muscle markers are typically positive. The tumors have been reported in the uterus, falciform ligament, and large and small intestine, among others. Depending on their location, they may present as a painful or painless mass, or with vaginal bleeding. Tumors displaying infiltrative growth, marked hypercellularity, nuclear enlargement and hyperchromasia, high mitotic activity, atypical mitotic figures, and/or coagulative necrosis should be regarded as malignant.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-595133/","orphanet_url":"https://www.orpha.net/en/disease/detail/595133","names":{"fr":{"name":"Tumeur des cellules épithélioïdes périvasculaires","synonyms":["PECome","Tumeur à cellules épithélioïdes périvasculaires"],"definition":"Tumeur rare des tissus mous caractérisée par la présence de cellules épithélioïdes périvasculaires typiques, d'organisation souvent radiaire autour de la lumière vasculaire, ainsi que par la présence de cellules fusiformes dans des proportions variables. Les marqueurs musculaires et mélanocytaires sont habituellement positifs. Les tumeurs ont, entre autres, été rapportées au niveau de l'utérus, du ligament falciforme du foie, de l'intestin grêle et du gros intestin. En fonction de leur localisation, elles peuvent se manifester par une masse douloureuse ou indolore, ou par des saignements vaginaux. Les tumeurs infiltrantes, ainsi que celles associées à une hypercellularité marquée, une augmentation du volume du noyau cellulaire et une hyperchromasie, une forte activité mitotique, des caractéristiques mitotiques atypiques et/ou une nécrose ischémique, doivent être considérées comme des tumeurs malignes."},"de":{"name":"Perivaskuläre epitheloidzellige Neoplasie","synonyms":["PECom","Perivaskulärer epitheloidzelliger Tumor"],"definition":"Ein seltener Weichteiltumor, der durch ausgeprägte perivaskuläre epitheloide Zellen, die oft radial um ein Gefäßlumen angeordnet sind, sowie durch spindelförmige Zellen in unterschiedlichen Anteilen gekennzeichnet ist. Melanozyten- und Muskelmarker sind in der Regel positiv. Die Tumoren wurden unter anderem im Uterus, im Ligamentum falciforme sowie im Dick- und Dünndarm festgestellt. Je nach Lokalisation können sie sich als schmerzhafte oder schmerzlose Gewebeverdichtung oder mit vaginalen Blutungen präsentieren. Tumoren mit infiltrativem Wachstum, ausgeprägter Hyperzellularität, Kernvergrößerung und Hyperchromasie, hoher mitotischer Aktivität, atypischen mitotischen Figuren und/oder Koagulationsnekrosen sollten als maligne angesehen werden."},"es":{"name":"Neoplasia de células epitelioides perivasculares","synonyms":["Tumor epitelioide perivascular"],"definition":"Es un tumor poco frecuente de tejidos blandos caracterizado por células epiteloides perivasculares distintivas, a menudo dispuestas radialmente alrededor de la luz vascular, así como células fusiformes en proporción variable. Los marcadores melanocíticos y musculares suelen ser positivos. Los tumores se localizan en el útero, el ligamento falciforme y el intestino grueso y delgado, entre otros. Dependiendo de su localización, pueden presentarse como una masa dolorosa o indolora, o con sangrado vaginal. Los tumores que presentan crecimiento infiltrativo, una marcada hipercelularidad, aumento del tamaño del núcleo e hipercromasia, elevada actividad mitótica, figuras mitóticas atípicas y/o necrosis coagulativa, deben ser considerados malignos."},"it":{"name":"Neoplasia delle cellule epitelioidi perivascolari","synonyms":["Tumore epitelioide perivascolare","PEComa"],"definition":"Si tratta di una neoplasia rara dei tessuti molli, caratterizzata da cellule epitelioidi perivascolari tipiche, spesso disposte radialmente intorno a un lume vascolare, e da cellule fusiformi in proporzione variabile. I marcatori melanocitici e muscolari in genere sono positivi. Questi tumori interessano l'utero, il legamento falciforme, l'intestino crasso e tenue e altri organi. A seconda della loro localizzazione, si manifestano sotto forma di massa dolorosa o indolore, o con emorragie vaginali. I tumori con crescita infiltrante, marcata ipercellularità, allargamento del nucleo e ipercromasia, elevata attività mitotica, figure mitotiche atipiche e/o necrosi coagulativa devono essere considerati maligni."},"nl":{"name":"Neoplasma van perivasculaire epithelioïde cellen","synonyms":["PECoom","Perivasculaire epithelioïdeceltumor"],"definition":"Een zeldzame tumor van weke delen, gekenmerkt door typische perivasculaire epitheloïde cellen, vaak radiaal geschikt rond vasculair lumen, alsook spoelcellen in variabele proportie. Melanocytische merkers en spiermerkers zijn doorgaans positief. De tumoren werden gerapporteerd in onder meer baarmoeder, ligamentum falciforme, en dikke en dunne darm. Afhankelijk van de locatie kunnen tumoren zich presenteren als pijnlijke of pijnloze massa, of met vaginale bloeding. Tumoren die infiltratieve groei, opmerkelijke hypercellulariteit, grote kernen en hyperchromasie, hoge mitotische activiteit, atypische mitotische figuren, en/of coagulatienecrose vertonen, dienen beschouwd te worden als zijnde maligne."},"pt":{"name":"Neoplasia de células epitelióides perivascular","synonyms":["PEComa","Tumor epitelióide perivascular"],"definition":"Tumor raro de tecidos moles caracterizado por células epiteliais perivasculares distintas, frequentemente dispostas radialmente ao redor de um lúmen vascular, e células fusiformes em proporções variáveis. Os marcadores melanocíticos e musculares são geralmente positivos. Os tumores ocorrem no útero, ligamento falciforme e intestino grosso e delgado, entre outros. Dependendo da localização, podem apresentar-se como massa dolorosa ou indolor ou com sangramento vaginal. Os tumores que exibem crescimento infiltrativo, hipercelularidade acentuada, aumento nuclear e hipercromasia, alta atividade mitótica, figuras mitóticas atípicas e / ou necrose coagulativa devem ser considerados malignos."},"pl":{"name":"Nowotwór z nabłonkowatych komórek przynaczyniowych","synonyms":["Guz z nabłonkowatych komórek przynaczyniowych"]},"cs":{"name":"Perivaskulární epiteloidní buněčný novotvar","synonyms":["PEComa","Perivascular epithelioid tumour"]},"uk":{"name":"Периваскулярне епітеліоїдне клітинне новоутворення","synonyms":["PEComa","Периваскулярна епітеліоїдна пухлина"],"definition":"A rare soft tissue tumor characterized by distinctive perivascular epitheloid cells, often arranged radially around a vascular lumen, as well as spindled cells in variable proportion. Melanocytic and muscle markers are typically positive. The tumors have been reported in the uterus, falciform ligament, and large and small intestine, among others. Depending on their location, they may present as a painful or painless mass, or with vaginal bleeding. Tumors displaying infiltrative growth, marked hypercellularity, nuclear enlargement and hyperchromasia, high mitotic activity, atypical mitotic figures, and/or coagulative necrosis should be regarded as malignant."},"zh":{"name":"Perivascular epithelioid cell neoplasm","synonyms":["PEComa","Perivascular epithelioid tumour"]},"tr":{"name":"Perivascular epithelioid cell neoplasm","synonyms":["PEComa","Perivascular epithelioid tumour"]}},"xrefs":[{"source":"ICD-10","code":"D21.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2F7C","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"XH4CC6","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"1715785646"},{"source":"ICD-11","code":"XH9WD1","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"303101971"},{"source":"MONDO","code":"0006359","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D054973","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1300127","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10085067","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":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}