{"orpha":251618,"name":"Subependymal giant cell astrocytoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SEGA"],"definition":"A rare astrocytoma characterized by a benign, slowly growing lesion that typically arises in the walls of the lateral ventricles, and most commonly occurs in patients <&nbsp;20 years with tuberous sclerosis complex. Most patients present with worsening epilepsy or symptoms of increased intracranial pressure. This WHO grade 1 tumor is composed of astrocytes with various phenotypes (i.e. polygonal, gemistocytic, spindle, and ganglionic-like). On immunohistochemistry, it is usually positive for GFAP, S100, beta-tubulin, neurofilament, synaptophysin, NeuN, TTF1, and phosphorylated S6 but shows weak or negative staining for tuberin, hamartin, and Ki-67. It has its specific DNA methylation profile.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251618/","orphanet_url":"https://www.orpha.net/en/disease/detail/251618","names":{"fr":{"name":"Astrocytome sous-épendymaire à cellules géantes","synonyms":["SEGA"],"definition":"Astrocytome rare caractérisé par une lésion bénigne à croissance lente apparaissant généralement dans les parois des ventricules latéraux et touchant le plus souvent les patients de moins de 20&nbsp;ans atteints de sclérose tubéreuse de Bourneville. La plupart des patients connaissent une aggravation de l'épilepsie ou des symptômes d'augmentation de la pression intracrânienne. Cette tumeur de grade 1 selon la classification de l'OMS est composée d'astrocytes présentant divers phénotypes (polygonaux, gémistocytiques, fusiformes et ganglionnaires). À l'immunohistochimie, elle est généralement positive pour la GFAP, la S100, la bêta-tubuline, le neurofilament, la synaptophysine, la NeuN, la TTF1 et la S6 phosphorylée, mais présente une coloration faible ou négative pour la tubérine, l'hamartine et la Ki-67. Elle présente un profil spécifique de méthylation de l'ADN."},"de":{"name":"Riesenzellastrozytom, subependymales","synonyms":["SEGA"],"definition":"Ein seltenes Astrozytom, das durch eine gutartige, langsam wachsende Läsion gekennzeichnet ist, die typischerweise in den Wänden der Seitenventrikel auftritt und am häufigsten bei Patienten unter 20 Jahren mit tuberöser Sklerose auftritt. Die meisten Patienten leiden unter einer Verschlimmerung ihrer Epilepsie oder Symptomen eines erhöhten Hirndrucks. Dieser Tumor der WHO-Klasse 1 besteht aus Astrozyten mit verschiedenen Phänotypen (d. h. polygonal, diffus, spindelförmig und ganglioid). In der Immunhistochemie ist er in der Regel positiv für GFAP, S100, Beta-Tubulin, Neurofilament, Synaptophysin, NeuN, TTF1 und phosphoryliertes S6, zeigt jedoch eine schwache oder negative Färbung für Tuberin, Hamartin und Ki-67. Er hat ein spezifisches DNA-Methylierungsprofil."},"es":{"name":"Astrocitoma subependimario de células gigantes","synonyms":["SEGA"],"definition":"Es un astrocitoma poco frecuente caracterizado por una lesión benigna de crecimiento lento que suele originarse en las paredes de los ventrículos laterales y que se presenta con mayor frecuencia en pacientes menores de 20 años con complejo de esclerosis tuberosa. La mayoría de los pacientes presenta un agravamiento de las crisis epilépticas o síntomas de aumento de la presión intracraneal. Este tumor, de grado 1 según la OMS, está compuesto por astrocitos con diversos fenotipos (poligonal, gemistocítico, fusiforme y ganglionar). En las pruebas inmunohistoquímicas, el resultado suele ser positivo para GFAP, S100, beta-tubulina, neurofilamento, sinaptofisina, NeuN, TTF1 y S6 fosforilado, pero muestra una tinción débil o negativa para tuberina, hamartina y Ki-67. Muestra un perfil de metilación de ADN específico."},"it":{"name":"Astrocitoma subependimale a cellule giganti","synonyms":["SEGA"],"definition":"Si tratta di un astrocitoma raro di basso grado, caratterizzato da una lesione benigna a crescita lenta, che di solito origina dalla parete dei ventricoli laterali, composta da grandi astrociti ganglioidi. Il tumore, di grado I secondo i criteri dell'OMS, di solito esordisce nelle prime due decadi di vita nei pazienti con sclerosi tuberosa complessa. La maggior parte dei pazienti presenta un peggioramento dell'epilessia o i sintomi di un aumento della pressione intracranica."},"nl":{"name":"Subependymaal reuscelastrocytoom","synonyms":["SEGA"],"definition":"Een zeldzaam astrocytoom, gekenmerkt door een goedaardige, traag groeiende laesie die doorgaans ontstaat in de wanden van de laterale ventrikels, en doorgaans voorkomt bij patiënten jonger dan 20 jaar met tubereuze sclerose complex. De meeste patiënten vertonen verergering van epilepsie of symptomen van verhoogde intracraniële druk. Deze WHO graad 1 tumor bestaat uit astrocyten met verschillende fenotypes (zijnde polygonaal, gemistocytair, spoelvormig, en ganglion-achtig). Bij immuunhistochemie is het meestal positief voor GFAP, S100, bèta-tubuline, neurofilament, synaptofysine, NeuN, TTF1, en gefosforyleerd S6, maar is er zwakke of negatieve kleuring voor tuberine, hamartine, en Ki-67. Het heeft een specifiek profiel van DNA-methylatie."},"pt":{"name":"Astrocitoma subependimário de células gigantes","synonyms":["SEGA"]},"pl":{"name":"Gwiaździak podwyściółkowy olbrzymiokomórkowy","synonyms":["SEGA"]},"cs":{"name":"Subependymální velkobuněčný astrocytom","synonyms":["SEGA"]},"uk":{"name":"Субепендимальна гігантоклітинна астроцитома","synonyms":["SEGA"],"definition":"A rare low-grade astrocytoma characterized by a benign, slowly growing lesion typically arising in the wall of the lateral ventricles, composed of large ganglioid astrocytes. The tumor corresponds to WHO grade I and typically occurs during the first two decades of life in patients with tuberous sclerosis complex. Most patients present with worsening of epilepsy or symptoms of increased intracranial pressure."},"zh":{"name":"室管膜下巨细胞星形细胞瘤","synonyms":["SEGA"],"definition":"一种罕见的低级别星形细胞瘤，其特征是良性的、生长缓慢的病变，通常发生在侧脑室壁，由大的神经节样星形细胞组成。该肿瘤属于WHO-I级，通常发生在结节性硬化症患者20岁以前。大多数患者出现癫痫恶化或颅内压升高的症状。"},"tr":{"name":"Subepandimal dev hücreli astrositom","synonyms":["SEGA"]}},"xrefs":[{"source":"ICD-10","code":"D43.2","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"2A00.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"776999891"},{"source":"ICD-11","code":"XH1L48","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"887826408"},{"source":"MONDO","code":"0016693","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0205768","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10632","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":717268,"name":"Circumscribed astrocytic glioma","classifications":[181,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}