{"orpha":251612,"name":"Pilocytic astrocytoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare astrocytoma characterized by bipolar hair-like projections extending from the neoplastic astrocytes, myxoid areas, eosinophilic granular bodies, and Rosenthal fibers. This WHO grade 1 tumor is most often located in the cerebellum in children, or in the hypothalamus, brain stem, optic chiasma, and brain hemispheres in adults. Depending on the primary location and the growth rate of the tumor, patients may present with signs of increased intracranial pressure or focal neurological signs such as decreased visual acuity, ataxia, and/or nystagmus, among other symptoms. Molecularly, it exhibits alterations in genes of the MAPK signaling pathway, most commonly <i>KIAA1549::BRAF</i> fusion.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251612/","orphanet_url":"https://www.orpha.net/en/disease/detail/251612","names":{"fr":{"name":"Astrocytome pilocytique","definition":"Astrocytome rare caractérisé par des projections bipolaires ressemblant à des poils s'étendant à partir des astrocytes néoplasiques, des zones myxoïdes, des corps granulaires éosinophiles et des fibres de Rosenthal. Cette tumeur de grade&nbsp;1 selon la classification de l'OMS se situe le plus souvent dans le cervelet chez les enfants, ou dans l'hypothalamus, le tronc cérébral, le chiasma optique et les hémisphères cérébraux chez les adultes. En fonction de la localisation primaire et du taux de croissance de la tumeur, les patients peuvent présenter des signes d'augmentation de la pression intracrânienne ou des signes neurologiques focaux tels qu'une diminution de l'acuité visuelle, une ataxie et/ou un nystagmus, entre autres. Sur le plan moléculaire, la tumeur présente des altérations des gènes de la voie de signalisation MAPK, le plus souvent une fusion <i>KIAA1549</i>::<i>BRAF</i>."},"de":{"name":"Astrozytom, pilozytisches","definition":"Ein seltener Hirntumor der WHO-Klasse 1, der gekennzeichnet ist durch bipolare haarähnliche Auswüchse, die von den neoplastischen Astrozyten ausgehen, sowie durch myxoide Bereiche, eosinophile Granularkörper und Rosenthal-Fasern. Das pilozytische Astrozytom tritt bei Kindern meist im Kleinhirn auf, bei Erwachsenen hingegen im Hypothalamus, im Hirnstamm, im Chiasma opticum und in den Gehirnhälften. Je nach Primärlokalisation und Wachstumsrate des Tumors können bei den Patienten unter anderem Anzeichen eines erhöhten Hirndrucks oder fokale neurologische Symptome wie verminderte Sehschärfe, Ataxie und/oder Nystagmus auftreten. Molekular zeigt er Veränderungen in den Genen des MAPK-Signalwegs, am häufigsten die Fusion <i>KIAA1549:BRAF</i>."},"es":{"name":"Astrocitoma pilocítico","definition":"Es un astrocitoma poco frecuente caracterizado por proyecciones pilocíticas bipolares que se extienden desde los astrocitos neoplásicos, áreas mixoides, cuerpos granulares eosinofílicos y fibras de Rosenthal. Este tumor, de grado 1 según la OMS, se localiza con mayor frecuencia en el cerebelo en niños, o en el hipotálamo, el tronco encefálico, el quiasma óptico y los hemisferios cerebrales en adultos. Dependiendo de la localización primaria y de la velocidad de crecimiento del tumor, los pacientes pueden presentar signos de aumento de la presión intracraneal o signos neurológicos focales, como disminución de la agudeza visual, ataxia o nistagmo, entre otros. Molecularmente, presenta alteraciones en los genes de la vía de señalización MAPK, más comúnmente la fusión <i>KIAA1549::BRAF</i>."},"it":{"name":"Astrocitoma pilocitico","definition":"L'astrocitoma pilocitico è un sottotipo raro di glioma del sistema nervoso centrale a basso grado di malignità. È caratterizzato da un tumore cerebrale, spesso di natura cistica, circoscritto, con un nodulo murale di dimensioni discrete e proiezioni, simili a capelli, che si estendono dagli astrociti neoplastici. A seconda della localizzazione primitiva e delle dimensioni del tumore, i pazienti possono presentare i sintomi di un aumento della pressione intracranica (cefalea, vomito, papilledema), annebbiamento della vista, diminuzione dell'acuità visiva, atassia e/o nistagmo. Di solito si localizza nel cervelletto, ma può localizzarsi anche nell'ipotalamo, nel tronco encefalico, nel chiasma ottico e negli emisferi."},"nl":{"name":"Pilocytair astrocytoom","definition":"Een zeldzaam astrocytoom, gekenmerkt door bipolaire haarachtige uitsteeksels die zich uitstrekken vanaf de neoplastische astrocyten, myxoïde gebieden, eosinofiele granulaire lichaampjes, en Rosenthal-vezels. Deze WHO graad 1 tumor is het vaakst gesitueerd in het cerebellum van kinderen, of in hypothalamus, hersenstam, chiasma opticum, en cerebrale hemisferen van volwassenen. Afhankelijk van de primaire locatie en de groeisnelheid van de tumor kunnen patiënten zich presenteren met verschijnselen van verhoogde intracraniële druk of focale neurologische verschijnselen zoals verminderde visus, ataxie, en/of nystagmus, naast andere symptomen. Moleculair zijn er veranderingen in genen van de MAPK-signaalweg, met <i>KIAA1549::BRAF</i>-fusie als meest gangbare."},"pt":{"name":"Astrocitoma pilocítico"},"pl":{"name":"Gwiaździak włosowatokomórkowy"},"cs":{"name":"Pilocytární astrocytom"},"uk":{"name":"Пілоцитарна астроцитома","definition":"Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but ocurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported."},"zh":{"name":"纤维状细胞性星形细胞瘤","definition":"毛细胞性星形细胞瘤是一种罕见的中枢神经系统低级别胶质瘤亚型，其特征是边界清楚，常为囊性脑瘤，伴有离散的壁结节和从肿瘤性星形细胞延伸而来的长毛状突起。根据肿瘤的主要部位和大小，患者可能会出现颅内压升高(头痛、呕吐、乳头水肿)、视力模糊、视力下降、共济失调和/或眼球震颤等体征。最常见的部位在小脑，但也有在下丘脑、脑干、视交叉和大脑半球发生的报道。"},"tr":{"name":"Pilositik astrositom"}},"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":"595864231"},{"source":"ICD-11","code":"XH12D2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"424726772"},{"source":"MONDO","code":"0016691","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0334583","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9808","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":[{"orpha":673580,"name":"Classic pilocytic astrocytoma","type":"Clinical subtype"},{"orpha":673585,"name":"Pilocytic astrocytoma with histological features of anaplasia","type":"Clinical subtype"},{"orpha":251615,"name":"Pilomyxoid astrocytoma","type":"Histopathological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"BRAF","name":"B-Raf proto-oncogene, serine/threonine kinase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"22159586[PMID]_21190184[PMID]","hgnc":"1097","ensembl":"ENSG00000157764","omim":"164757","loci":["7q34"],"via":{"orpha":251615,"name":"Pilomyxoid astrocytoma"}},{"symbol":"FGFR1","name":"fibroblast growth factor receptor 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"23817572[PMID]","hgnc":"3688","ensembl":"ENSG00000077782","omim":"136350","loci":["8p11.23"],"via":{"orpha":251615,"name":"Pilomyxoid astrocytoma"}},{"symbol":"KRAS","name":"KRAS proto-oncogene, GTPase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"22159586[PMID]_21424530[PMID]_19373855[PMID]","hgnc":"6407","ensembl":"ENSG00000133703","omim":"190070","loci":["12p12.1"],"via":{"orpha":251615,"name":"Pilomyxoid astrocytoma"}},{"symbol":"BRAF","name":"B-Raf proto-oncogene, serine/threonine kinase","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"22159586[PMID]_18974108[PMID]","hgnc":"1097","ensembl":"ENSG00000157764","omim":"164757","loci":["7q34"],"via":{"orpha":251615,"name":"Pilomyxoid astrocytoma"}},{"symbol":"KIAA1549","name":"KIAA1549","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"22159586[PMID]_18974108[PMID]","hgnc":"22219","ensembl":"ENSG00000122778","omim":"613344","loci":["7q34"],"via":{"orpha":251615,"name":"Pilomyxoid astrocytoma"}},{"symbol":"NTRK2","name":"neurotrophic receptor tyrosine kinase 2","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"23817572[PMID]","hgnc":"8032","ensembl":"ENSG00000148053","omim":"600456","loci":["9q21.33"],"via":{"orpha":251615,"name":"Pilomyxoid astrocytoma"}},{"symbol":"RAF1","name":"Raf-1 proto-oncogene, serine/threonine kinase","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"22159586[PMID]_19363522[PMID]","hgnc":"9829","ensembl":"ENSG00000132155","omim":"164760","loci":["3p25.2"],"via":{"orpha":251615,"name":"Pilomyxoid astrocytoma"}},{"symbol":"SRGAP3","name":"SLIT-ROBO Rho GTPase activating protein 3","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"22159586[PMID]_19363522[PMID]","hgnc":"19744","ensembl":"ENSG00000196220","omim":"606525","loci":["3p25.3"],"via":{"orpha":251615,"name":"Pilomyxoid astrocytoma"}}],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.36,"area":"United States","status":"Validated","source":"Central Brain Tumor OTHERistry of the United States 2010-2014[OTHER]_29117289[PMID]"}],"phenotypes":null}