{"orpha":251607,"name":"Pleomorphic xanthoastrocytoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PXA"],"definition":"A rare astrocytoma characterized by GFAP-expressing cells with nuclear/cytoplasmic pleomorphism, xanthomatous changes, and eosinophilic granular bodies surrounded by a reticulin network. Pleomorphic xanthoastrocytoma (PXA) most often has cerebral hemispheres location with meningeal involvement, mainly affects younger individuals and is frequently characterized by early seizure manifestation. Extent of resection and mitotic index are important prognostic factors. PXA commonly exhibits MAPK signaling pathway genes mutations (most frequently <i>BRAFV600E</i>), often combined with <i>CDKN2A/B</i> homozygous deletion, and a specific DNA methylation profile. The tumor corresponds to WHO grade 2 or grade 3, mainly depending on the mitotic index and Ki-67 expression.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251607/","orphanet_url":"https://www.orpha.net/en/disease/detail/251607","names":{"fr":{"name":"Xanthoastrocytome pléomorphe","synonyms":["PXA"],"definition":"Astrocytome rare caractérisé par des cellules exprimant la GFAP présentant un pléomorphisme nucléaire/cytoplasmique, des lésions xanthomateuses et des corps granulaires éosinophiles entourés d'un réseau réticuline. Le xanthoastrocytome pléomorphe se situe le plus souvent dans les hémisphères cérébraux et affecte les méninges. Il touche principalement les personnes jeunes et se caractérise fréquemment par l'apparition précoce de crises d'épilepsie. L'étendue de la résection et l'indice mitotique sont des facteurs pronostiques importants. Le xanthoastrocytome pléomorphe présente généralement des mutations des gènes de la voie de signalisation MAPK (le plus souvent <i>BRAFV600E</i>), souvent associées à une délétion homozygote de <i>CDKN2A/B</i> et à un profil spécifique de méthylation de l'ADN. La tumeur correspond au grade 2 ou 3 de la classification de l'OMS, principalement en fonction de l'indice mitotique et de l'expression de Ki-67."},"de":{"name":"Xanthoastrozytom, pleomorphes","synonyms":["PXA"],"definition":"Ein seltenes Astrozytom, das durch GFAP-exprimierende Zellen mit nukleärem/zytoplasmatischem Pleomorphismus, xanthomatösen Veränderungen und eosinophilen Granularkörpern, die von einem Retikulinnetzwerk umgeben sind, gekennzeichnet ist. Das pleomorphe Xanthoastrozytom (PXA) tritt am häufigsten in den Großhirnhemisphären mit meningealer Beteiligung auf, betrifft vor allem jüngere Menschen und ist häufig durch frühe Krampfanfälle gekennzeichnet. Das Ausmaß der Resektion und der Mitoseindex sind wichtige Prognosefaktoren. PXA weist häufig Mutationen der MAPK-Signalweggene (am häufigsten BRAFV600E) auf, oft in Kombination mit einer homozygoten Deletion von CDKN2A/B und einem spezifischen DNA-Methylierungsprofil. Der Tumor entspricht dem WHO-Grad 2 oder Grad 3, hauptsächlich abhängig vom Mitoseindex und der Ki-67-Expression."},"es":{"name":"Xantoastrocitoma pleomórfico","synonyms":["PXA"],"definition":"Es un astrocitoma poco frecuente caracterizado por células que expresan GFAP con pleomorfismo nuclear/citoplasmático, cambios xantomatosos y cuerpos granulares eosinofílicos rodeados por una red de reticulina. El xantoastrocitoma pleomórfico (XAP) se localiza preferentemente en los hemisferios cerebrales con afectación meníngea, se observa con mayor frecuencia en individuos jóvenes y está caracterizado por crisis epilépticas precoces. La extensión de la resección y el índice mitótico son factores pronósticos importantes. El XAP suele estar causado por mutaciones de los genes de la vía de señalización MAPK (más frecuentemente de <i>BRAFV600E</i>), a menudo combinadas con deleción homocigótica de <i>CDKN2A/B</i>, y una firma de metilación del ADN específica. El tumor corresponde al grado 2 ó 3 según la OMS, dependiendo principalmente del índice mitótico y de la expresión de Ki-67."},"it":{"name":"Xantoastrocitoma pleomorfo","synonyms":["PXA"],"definition":"Si tratta di un astrocitoma raro di basso grado, localizzato superficialmente negli emisferi cerebrali, che interessa le meningi. È composto da cellule che esprimono la GFAP, con nucleo e citoplasma pleomorfi e alterazioni xantomatose, circondate da una rete di reticolina. Il tumore, di grado II secondo la classificazione dell'OMS, in genere colpisce i bambini e i giovani adulti, che spesso presentano una lunga storia di crisi epilettiche. L'ampiezza della resezione e l'indice mitotico rappresentano fattori importanti per la prognosi."},"nl":{"name":"Pleomorf xanthoastrocytoom","synonyms":["PXA","Pleiomorf xanthoastrocytoom"],"definition":"Een zeldzaam astrocytoom, gekenmerkt door cellen die GFAP tot expressie brengen met nucleair/cytoplasmatisch pleomorfisme, xanthomateuze veranderingen, en eosinofiele granulaire lichaampjes omringd door een netwerk van reticuline. Pleomorf xanthoastrocytoom (PXA) is meestal gesitueerd in cerebrale hemisferen met betrokkenheid van meningen, treft vooral jongere individuen, en wordt vaak gekenmerkt door vroege manifestatie van insulten. Omvang van excisie en mitotische index zijn belangrijke prognostische factoren. PXA vertoont doorgaans mutaties in genen van de MAPK-signaalweg (met BRAFV600E als meest frequente), vaak gecombineerd met homozygote deletie van <i>CDKN2A/B</i>, en een specifiek profiel van DNA-methylatie. De tumor stemt overeen met WHO graad 2 of graad 3, afhankelijk van vooral de mitotische index en expressie van Ki-67."},"pt":{"name":"Xantoastrocitoma pleomórfico","synonyms":["PXA"]},"pl":{"name":"Żółtakogwiaździak pleomorficzny","synonyms":["PXA"]},"cs":{"name":"Pleomorfní xanthoastrocytom","synonyms":["PXA"]},"uk":{"name":"Плеоморфна ксантоастроцитома","synonyms":["PXA"],"definition":"A rare low-grade astrocytoma characterized by superficial location in the cerebral hemispheres with involvement of the meninges, composed of GFAP-expressing cells showing nuclear and cytoplasmic pleomorphism and xanthomatous change, surrounded by a reticulin network. The tumor corresponds to WHO grade II and typically affects children and young adults, who often present with a long history of seizures. Extent of resection and mitotic index are important prognostic factors."},"zh":{"name":"多形性黄色星形细胞瘤","synonyms":["多形性黄色星形细胞瘤"],"definition":"一种罕见的低度恶性星形细胞瘤，特点是位于大脑半球浅表，累及脑膜，由表达GFAP的细胞组成，呈核质多形性和黄色瘤样改变，周围有网膜素蛋白。该肿瘤属于WHO-II级，通常影响儿童和年轻人，他们经常有很长的癫痫史。手术切除范围和核分裂指数是影响预后的重要因素。"},"tr":{"name":"Pleomorfik ksantoastrositom","synonyms":["PXA"]}},"xrefs":[{"source":"ICD-10","code":"C71.9","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"2A00.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1033974606"},{"source":"ICD-11","code":"XH99U2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"124030582"},{"source":"MONDO","code":"0016690","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0334586","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10631","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":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.01,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":null}