{"orpha":251671,"name":"Angiocentric glioma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare diffuse glial neoplasm of the central nervous system characterized by a slowly progressing, grade 1 tumor usually arising in the cerebral cortex and/or brainstem, with tumor cells focally organized around the blood vessels in a distinctive pattern. Angiocentric glioma typically affects young patients and is clinically characterized by refractory seizures and headaches. Nearly all angiocentric gliomas exhibit <i>MYB</i> alterations (most commonly <i>MYB::QKI</i> fusion). Most cases are cured by surgical resection alone and the prognosis is usually favorable.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251671/","orphanet_url":"https://www.orpha.net/en/disease/detail/251671","names":{"fr":{"name":"Gliome angiocentrique","definition":"Tumeur gliale diffuse rare du système nerveux central caractérisée par un néoplasme de grade 1, lentement progressif, apparaissant généralement dans le cortex cérébral et/ou le tronc cérébral, sous la forme des cellules tumorales organisées de manière focale autour des vaisseaux sanguins selon un schéma distinct. Le gliome angiocentrique touche généralement les jeunes patients et se caractérise sur le plan clinique par des crises convulsives réfractaires et des maux de tête. Presque tous les gliomes angiocentriques présentent des altérations du gène <i>MYB</i> (le plus souvent une fusion <i>MYB</i>:: <i> QKI</i>). Dans la plupart des cas, la solution curative est une résection chirurgicale seule et le pronostic est généralement favorable."},"de":{"name":"Gliom, angiozentrisches","definition":"Eine seltene diffuse gliale Neoplasie des Zentralnervensystems, die durch einen langsam fortschreitenden Tumor des WHO Grades 1 gekennzeichnet ist, der in der Regel in der Großhirnrinde und/oder im Hirnstamm auftritt, wobei sich die Tumorzellen in einem charakteristischen Muster fokussiert um die Blutgefäße herum anordnen. Das angiozentrische Gliom betrifft in der Regel junge Patienten und ist klinisch durch refraktäre Krampfanfälle und Kopfschmerzen gekennzeichnet. Nahezu alle angiozentrischen Gliome weisen MYB-Veränderungen auf (am häufigsten MYB::QKI-Fusion). Die meisten Fälle können allein durch chirurgische Resektion geheilt werden, und die Prognose ist in der Regel günstig."},"es":{"name":"Glioma angiocéntrico","definition":"Es una neoplasia glial difusa poco frecuente del sistema nervioso central, caracterizada por un tumor de grado 1 según la OMS de progresión lenta que generalmente se origina en la corteza cerebral o en el tronco encefálico, con células tumorales organizadas focalmente alrededor de los vasos sanguíneos siguiendo un patrón característico. El glioma angiocéntrico suele afectar a pacientes jóvenes y se caracteriza clínicamente por crisis epilépticas y cefaleas refractarias. La mayoría de gliomas angiocéntricos presenta alteraciones del gen <i>MYB</i> (más comúnmente, una fusión <i>MYB::QKI</i>) y se tratan mediante resección quirúrgica únicamente. El pronóstico suele ser favorable."},"it":{"name":"Glioma angiocentrico","definition":"Il glioma angiocentrico (AG) è una neoplasia gliale, estremamente rara e a progressione lenta, del sistema nervoso centrale, che origina di solito in un sito superficiale del cervello. Interessa tutte le età ed entrambi i sessi. Si caratterizza per la presenza di convulsioni resistenti alla terapia e cefalee. La maggior parte dei casi viene trattata solo con l'incisione chirurgica, con conseguente buona prognosi."},"nl":{"name":"Angiocentrisch glioom","definition":"Een zeldzaam diffuus gliaal neoplasma van centraal zenuwstelsel, gekenmerkt door een traag evoluerende graad 1 tumor die meestal ontstaat in de hersenschors en/of hersenstam, met tumorcellen die focaal zijn georganiseerd rond de bloedvaten volgens een kenmerkend patroon. Angiocentrisch glioom treft doorgaans jonge patiënten en wordt klinisch gekenmerkt door refractaire insulten en hoofdpijn. Nagenoeg alle angiocentrische gliomen vertonen veranderingen van <i>MYB</i> (met <i>MYB::QKI</i>-fusie als meest gangbare). De meeste gevallen worden genezen door alleen chirurgische excisie, en de prognose is meestal gunstig."},"pt":{"name":"Glioma angiocêntrico"},"pl":{"name":"Glejak angiocentryczny"},"cs":{"name":"Angiocentrický gliom"},"uk":{"name":"Ангіоцентрична гліома","definition":"An extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis."},"zh":{"name":"血管中心性胶质瘤","definition":"一种极为罕见的生长缓慢的中枢神经系统神经胶质瘤，通常发生在大脑的浅表部位，影响所有年龄和性别，以难治性癫痫发作和头痛为特征，大多数病例仅通过手术切开就能治愈，因此预后良好"},"tr":{"name":"Anjiyosentrik gliom"}},"xrefs":[{"source":"ICD-10","code":"C71.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A00.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"503444636"},{"source":"MONDO","code":"0016705","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2363903","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10073129","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":251668,"name":"Glial tumor of neuroepithelial tissue with unknown origin","classifications":[181,202]}],"children":[],"genes":[{"symbol":"MYB","name":"MYB proto-oncogene, transcription factor","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"26829751[PMID]","hgnc":"7545","ensembl":"ENSG00000118513","omim":"189990","loci":["6q23.3"]},{"symbol":"QKI","name":"QKI, KH domain containing RNA binding","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"26829751[PMID]","hgnc":"21100","ensembl":"ENSG00000112531","omim":"609590","loci":["6q26"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":52.0,"area":"Worldwide","status":"Validated","source":"24348765[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"24348765[PMID]"}],"phenotypes":null}