{"orpha":251679,"name":"Astroblastoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare central nervous system tumor characterized by a well circumscribed astrocytic neoplasm, typically arising peripherally in the frontal or parietal lobes. It usually presents in infants and young adults with symptoms of increased intracranial pressure, epileptic seizures, and/or neurological deficits. At the histomolecular level, it exhibits astroblastic perivascular pseudorosettes and positive immunostaining for GFAP and EMA. It carries fusion of <i>MN1</i> with various partners (the most common being <i>BEND2</i> and <i>CXXC5</i>) and exhibits a specific astroblastoma, MN1-altered DNA methylation class.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251679/","orphanet_url":"https://www.orpha.net/en/disease/detail/251679","names":{"fr":{"name":"Astroblastome","definition":"Tumeur rare du système nerveux central caractérisée par une lésion tumorale astrocytaire bien circonscrite, apparaissant habituellement à la périphérie des lobes frontaux ou pariétaux. Elle se manifeste généralement chez les nourrissons et les jeunes adultes par des symptômes tels qu'une augmentation de la pression intracrânienne, des crises d'épilepsie et/ou des déficits neurologiques. Au niveau histomoléculaire, elle présente des pseudorosettes astroblastiques périvasculaires et un immunomarquage positif pour GFAP et pour EMA. Elle comporte une fusion de MN1 avec divers partenaires (les plus courants étant <i>BEND2</i> et <i>CXXC5</i>) et présente un profil de méthylation de l'ADN, avec altération MN1, spécifique à un astroblastome."},"de":{"name":"Astroblastom","definition":"Ein seltener Tumor des Zentralnervensystems, der durch eine gut abgegrenzte astrozytische Neoplasie gekennzeichnet ist und typischerweise peripher im Frontal- oder Parietallappen auftritt. Er tritt in der Regel bei Säuglingen und jungen Erwachsenen mit Symptomen wie erhöhtem Hirndruck, epileptischen Anfällen und/oder neurologischen Ausfällen auf. Auf histomolekularer Ebene weist er astroblastische perivaskuläre Pseudorosetten und eine positive Immunfärbung für GFAP und EMA auf. Er trägt eine Fusion von <i>MN1</i> mit verschiedenen Partnern (am häufigsten <i>BEND2</i> und <i>CXXC5</i>) und weist eine spezifische Astroblastom-Klasse mit <i>MN1</i>-veränderter DNA-Methylierung auf."},"es":{"name":"Astroblastoma","definition":"Es un tumor poco frecuente del sistema nervioso central caracterizado por una neoplasia astrocítica bien delimitada, que suele surgir periféricamente en los lóbulos frontal o parietal. Suele presentarse en lactantes y adultos jóvenes con síntomas de hipertensión intracraneal, crisis epilépticas o déficits neurológicos. A nivel histomolecular, presenta pseudo-rosetas perivasculares astroblásticas e inmunotinción positiva para GFAP y EMA. Presenta la fusión de <i>MN1</i> con diversos genes (más frecuentemente con <i>BEND2</i> y <i>CXXC5</i>) y una alteración de la forma de metilación del ADN asociada al gen <i>MN1</i> específica del astroblastoma."},"it":{"name":"Astroblastoma","definition":"L'astroblastoma è una neoplasia gliale molto rara del sistema nervoso centrale, caratterizzata più comunemente da una localizzazione sovratentoriale periferica intra-assiale in un emisfero dei lobi frontali o parietali. Si manifesta di solito nei bambini e nei giovani adulti con vomito, perdita della conoscenza, crisi epilettiche e cefalee."},"nl":{"name":"Astroblastoom","definition":"Een zeldzame tumor van centraal zenuwstelsel, gekenmerkt door een goed begrensd astrocytair neoplasma, dat doorgaans perifeer ontstaat in de frontale of pariëtale kwab. Het presenteert zich meestal bij zuigelingen en jonge volwassenen met symptomen van verhoogde intracraniële druk, epileptische aanvallen, en/of neurologische functiestoornissen. Op histomoleculair niveau vertoont het astroblastische perivasculaire pseudorozetten en positieve immuunkleuring voor GFAP en EMA. Er is fusie van <i>MN1</i> met diverse partners (waarvan de meest gangbare <i>BEND2</i> en <i>CXXC5</i> zijn) en een patroon van DNA-methylatie specifiek voor astroblastoom met verandering van MN1."},"pt":{"name":"Astroblastoma"},"pl":{"name":"Gwiaździak zarodkowy"},"cs":{"name":"Astroblastom"},"uk":{"name":"Астробластома","definition":"A very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches."},"zh":{"name":"星形母细胞瘤","definition":"一种非常罕见的中枢神经系统神经胶质瘤，通常位于额叶或顶叶的一个半球的轴内外周幕上，通常表现为婴儿和年轻人的呕吐、意识丧失、癫痫发作和头痛的症状。"},"tr":{"name":"Astroblastoma"}},"xrefs":[{"source":"ICD-10","code":"C71.9","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"2A00.4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"96344074"},{"source":"MONDO","code":"0016707","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0334587","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10635","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10079366","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":[{"symbol":"MN1","name":"MN1 proto-oncogene, transcriptional regulator","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"31111274[PMID]","hgnc":"7180","ensembl":"ENSG00000169184","omim":"156100","loci":["22q12.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.02,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":null}