{"orpha":251946,"name":"Dysembryoplastic neuroepithelial tumor","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DNET"],"definition":"A rare mixed neuronal-glial tumor characterized by a benign, usually supratentorial lesion with predominantly cortical location and multinodular architecture. The tumor typically becomes symptomatic in the second or third decade of life with drug-resistant partial seizures. Histological hallmark is the specific glioneuronal element, columns oriented perpendicularly to the cortical surface, formed by bundles of axons attached to oligodendroglia-like cells, while neurons appear to float in an abundant eosinophilic matrix.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251946/","orphanet_url":"https://www.orpha.net/en/disease/detail/251946","names":{"fr":{"name":"Tumeur neuroépithéliale dysembryoplasique","synonyms":["DNET"],"definition":"Tumeur mixte neuronale-gliale rare caractérisée par une lésion bénigne, généralement supratentorielle, à localisation corticale prédominante et à architecture multinodulaire. La tumeur devient généralement symptomatique au cours de la deuxième ou troisième décennie de vie, avec des crises convulsives partielles résistantes aux médicaments. L'histologie se caractérise par une composante glioneuronale spécifique, sous forme de colonnes perpendiculaires par rapport à la surface corticale, formées par des faisceaux d'axones attachés à des cellules de type oligodendroglia, tandis que les neurones semblent flotter dans une matrice éosinophile abondante."},"de":{"name":"Tumor, dysembryoplastischer neuroepithelialer","synonyms":["DNET"],"definition":"Ein seltener gemischter neuronal-glialer Tumor, der durch eine gutartige, meist supratentorielle Läsion mit überwiegend kortikaler Lokalisation und multinodulärer Architektur gekennzeichnet ist. Der Tumor wird typischerweise im zweiten oder dritten Lebensjahrzehnt symptomatisch mit medikamentenresistenten partiellen Anfällen. Histologisches Merkmal ist das spezifische glioneuronale Element, senkrecht zur Kortikalisoberfläche ausgerichtete Säulen, die aus Axonbündeln bestehen, die an oligodendrogliaähnlichen Zellen befestigt sind, während die Neuronen in einer reichlich vorhandenen eosinophilen Matrix zu schwimmen scheinen."},"es":{"name":"Tumor neuroepitelial disembrioplásico","synonyms":["DNET"],"definition":"Es un tumor mixto neuronal-glial poco frecuente caracterizado por una lesión benigna, por lo general, supratentorial, predominantemente de localización cortical y de arquitectura multinodular. Típicamente, el tumor produce síntomas en la segunda o tercera década de la vida con crisis parciales farmacorresistentes. La característica histológica distintiva es el componente glioneuronal específico, las columnas orientadas perpendicularmente a la superficie cortical, formadas por haces de axones unidos a células de aspecto oligodendroglial, mientras que las neuronas parecen flotar en una abundante matriz eosinófíla."},"it":{"name":"Tumore neuroepiteliale disembrioplastico","synonyms":["DNET"],"definition":"Si tratta di una neoplasia mista neuronale-gliale rara, caratterizzata da una lesione benigna, di solito sopratentoriale, con localizzazione prevalentemente corticale e architettura multinodulare. In genere si manifesta nella seconda o nella terza decade con crisi epilettiche parziali farmaco-resistenti. Dal punto di vista istologico è caratterizzato da una componente glioneurale specifica sotto forma di colonne orientate perpendicolarmente alla superficie corticale, formate da fasci di assoni adesi alle cellule simil-oligodendroglia, mentre i neuroni sembrano fluttuare in un'abbondante matrice eosinofila."},"nl":{"name":"Dysembryoplastische neuro-epitheliale tumor","synonyms":["DNET"],"definition":"Een zeldzame gemengde neuronale-gliale tumor, gekarakteriseerd door een goedaardige, meestal supratentoriële laesie met overwegend corticale locatie en multinodulaire architectuur. De tumor wordt doorgaans symptomatisch in het tweede of derde levensdecennium, met medicatieresistente partiële insulten. Het typische histologische kenmerk is het specifieke glioneuronale element, kolommen die perpendiculair zijn georiënteerd aan het corticale oppervlak en die gevormd worden door bundels van axonen vastgehecht aan cellen gelijkend op oligodendrogliale cellen, terwijl neuronen lijken te drijven in een overvloedige eosinofiele matrix."},"pt":{"name":"Tumor neuroepitelial disembrioplásico","synonyms":["DNET"]},"pl":{"name":"Dysembrioplastyczny nowotwór neuroepitelialny","synonyms":["DNET"]},"cs":{"name":"Dysembryoplastický neuroepiteliální nádor","synonyms":["DNET"]},"uk":{"name":"Дизембріопластична нейроепітеліальна пухлина","synonyms":["DNET"],"definition":"A rare mixed neuronal-glial tumor characterized by a benign, usually supratentorial lesion with predominantly cortical location and multinodular architecture. The tumor typically becomes symptomatic in the second or third decade of life with drug-resistant partial seizures. Histological hallmark is the specific glioneuronal element, columns oriented perpendicularly to the cortical surface, formed by bundles of axons attached to oligodendroglia-like cells, while neurons appear to float in an abundant eosinophilic matrix."},"zh":{"name":"胚胎发育不良性神经上皮瘤","synonyms":["DNET"],"definition":"一种罕见的神经元-神经胶质混合瘤，其特征是良性的，通常是幕上病变，主要位于皮质和多结节结构。肿瘤通常在10到30岁之间出现症状，伴有药物治疗无效的部分癫痫发作。组织学上的标志是特殊的胶质神经元成分，即垂直于皮质表面的柱状物，由附着在少突胶质样细胞上的一束束轴突形成，而神经元看上去就像漂浮在丰富的嗜酸性基质中。"},"tr":{"name":"Disembriyoplastik nöroepitelyal tümör","synonyms":["DNET"]}},"xrefs":[{"source":"ICD-10","code":"D33.0","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"ICD-11","code":"2A00.21","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2066698505"},{"source":"ICD-11","code":"XH0H76","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"488878256"},{"source":"MONDO","code":"0005505","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1266177","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10640","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":251934,"name":"Mixed neuronal-glial tumor","classifications":[181,202]},{"orpha":101998,"name":"Rare epilepsy","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[],"phenotypes":null}