{"orpha":530792,"name":"RELA fusion-positive ependymoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Supratentorial C11ORF95-RELA fused ependymoma"],"definition":"A rare ependymal tumor characterized by the presence of a <i>RELA</i> fusion gene. This supratentorial grade II or III ependymoma most often occurs in children and young adults. Histopathological features are variable, but a distinctive vascular pattern of branching capillaries or clear-cell change are common. Patients may present with focal neurological deficits, seizures, or features of raised intracranial pressure. Prognosis is worse than in other supratentorial ependymomas.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-530792/","orphanet_url":"https://www.orpha.net/en/disease/detail/530792","names":{"fr":{"name":"Ependymome avec fusion RELA","synonyms":["Ependymome supratentoriel avec fusion C11ORF95-RELA"],"definition":"Tumeur épendymaire rare caractérisée par la présence d'un gène de fusion RELA. L'épendymome supratentoriel de grade II ou III apparait le plus souvent chez les enfants et les jeunes adultes. Les caractéristiques histopathologiques sont variables, mais on observe généralement un schéma vasculaire distinct de capillaires ramifiés et la présence de cellules claires au marquage. Les patients peuvent manifester des déficits neurologiques focaux, des crises convulsives ou des signes de pression intracrânienne élevée. Le pronostic est moins favorable que pour les autres épendymomes supratentoriels."},"de":{"name":"RELA-Fusion-positives Ependymom","synonyms":["Supratentorielles Ependymom mit C11ORF95-RELA-Fusion","Supratentorielles Ependymom mit ZFTA-Fusion"],"definition":"Ein seltener ependymaler Tumor, der durch das Vorhandensein eines <i>RELA</i>-Fusionsgens gekennzeichnet ist. Dieses supratentorielle Ependymom vom Grad II oder III tritt am häufigsten bei Kindern und jungen Erwachsenen auf. Die histopathologischen Merkmale sind unterschiedlich, aber ein ausgeprägtes vaskuläres Muster mit verzweigten Kapillaren oder klarzellige Veränderungen sind häufig. Die Patienten können fokale neurologische Defizite, Krampfanfälle oder Anzeichen eines erhöhten Hirndrucks aufweisen. Die Prognose ist schlechter als bei anderen supratentoriellen Ependymomen."},"es":{"name":"Ependimoma con fusión positiva del gen RELA","synonyms":["Ependimoma supratentorial con C11ORF95-RELA fusionados"],"definition":"Es un tumor ependimario poco frecuente caracterizado por la presencia de un gen de fusión <i>RELA</i>. Este ependimoma supratentorial de grado II o III aparece con mayor frecuencia en niños y adultos jóvenes. Los hallazgos histopatológicos son variables, aunque es frecuente encontrar un patrón vascular distintivo de capilares ramificados o cambios en las células claras. Los pacientes pueden presentarse con déficits neurológicos focales, crisis epilépticas o signos de aumento de la presión intracraneal. El pronóstico es peor que en otros ependimomas supratentoriales."},"it":{"name":"Ependimoma positivo per la fusione del gene RELA","definition":"Si tratta di un tumore ependimale raro, caratterizzato dalla presenza di un gene di fusione <i>RELA</i>. L'ependimoma sopratentoriale di grado II o III in genere colpisce i bambini e i giovani adulti. Le caratteristiche istopatologiche sono variabili, ma è comune un quadro vascolare caratteristico con capillari ramificati o alterazioni a cellule chiare. I pazienti possono presentare deficit neurologici focali, crisi epilettiche o i sintomi correlati all'aumento della pressione intracranica. La prognosi è maggiormente sfavorevole rispetto a quella degli altri epindemomi sopratentoriali."},"nl":{"name":"RELA-fusie-positief ependymoom","synonyms":["Supratentorieel C11ORF95-RELA-gefuseerd ependymoom"],"definition":"Een zeldzame ependymale tumor, gekarakteriseerd door de aanwezigheid van een <i>RELA</i>-fusiegen. Dit supratentorieel ependymoom met graad II of III komt het vaakst voor bij kinderen en jonge volwassenen. Histopathologische kenmerken zijn variabel, maar een typisch vasculair patroon van vertakte capillairen of verandering naar heldercellig celtype zijn gangbaar. Patiënten kunnen zich presenteren met focale neurologische functiestoornissen, insulten, of kenmerken van verhoogde intracraniële druk. De prognose is slechter dan voor andere supratentoriële ependymomen."},"pt":{"name":"Ependimoma RELA fusão-positivo"},"pl":{"name":"Wyściółczak dodatni pod względem fuzji RELA","synonyms":["Supratentorial C11ORF95-RELA fused ependymoma"]},"cs":{"name":"RELA fúzně pozitivní ependymom","synonyms":["Supratentoriální C11ORF95-RELA fúzovaný ependymom"]},"uk":{"name":"Епендимома, позитивна по злитому RELA","synonyms":["Супратенторіальна злита епендимома C11ORF95-RELA"],"definition":"A rare ependymal tumor characterized by the presence of a <i>RELA</i> fusion gene. This supratentorial grade II or III ependymoma most often occurs in children and young adults. Histopathological features are variable, but a distinctive vascular pattern of branching capillaries or clear-cell change are common. Patients may present with focal neurological deficits, seizures, or features of raised intracranial pressure. Prognosis is worse than in other supratentorial ependymomas."},"zh":{"name":"RELA基因融合阳性室管膜瘤","synonyms":["幕上C11ORF95-RELA基因融合性室管膜瘤"],"definition":"一种罕见的室管膜肿瘤，以存在RELA融合基因为特征。这种幕上Ⅱ级或Ⅲ级室管膜瘤最常发生在儿童和青壮年身上。组织病理特征是可变的，但分支毛细血管或透明细胞变化的独特血管模式是常见的。患者可出现局灶性神经功能障碍、癫痫发作或颅内压升高的特征。预后较其他幕上室管膜肿瘤差。"},"tr":{"name":"RELA füzyon pozitif ependimom","synonyms":["Supratentoryal C11ORF95-RELA ile kaynaşmış epandimom"]}},"xrefs":[{"source":"ICD-10","code":"D43.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A00.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"XH2AY7","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"72739247"},{"source":"MONDO","code":"0033980","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4289581","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":301,"name":"Ependymal tumor","classifications":[181,202]}],"children":[],"genes":[{"symbol":"RELA","name":"RELA proto-oncogene, NF-kB subunit","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"28895660[PMID]","hgnc":"9955","ensembl":"ENSG00000173039","omim":"164014","loci":["11q13.1"]},{"symbol":"ZFTA","name":"zinc finger translocation associated","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"28895660[PMID]","hgnc":"28449","ensembl":"ENSG00000188070","omim":"615699","loci":["11q13.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}