{"orpha":251909,"name":"Pineoblastoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251909/","orphanet_url":"https://www.orpha.net/en/disease/detail/251909","names":{"fr":{"name":"Pinéoblastome","definition":"Le pinéoblastome est un type malin et rare de tumeur neuroectodermique primitive (TNEP) supratentorielle, retrouvé surtout chez l'enfant (moins de 10% des cas sont rapportés chez l'adulte). Il est situé dans la région pinéale du cerveau, mais il peut métastaser le long de l'axe neuronal. Il est généralement associé à un mauvais pronostic car il s'agit de la tumeur du parenchyme pinéal la plus agressive."},"de":{"name":"Pineoblastom"},"es":{"name":"Pineoblastoma","definition":"El pineoblastoma es un tumor neuroectodérmico primitivo supratentorial (PNETs) de tipo maligno, poco frecuente, hallado principalmente en niños (menos del 10% de los casos se presentaron en adultos) y localizado en la región pineal del cerebro aunque puede metastizar en el neuroeje. Es el tumor del parénquima pineal más agresivo y, en general, se asocia con un pronóstico desfavorable."},"it":{"name":"Pineoblastoma","definition":"Il pineoblastoma è una rara forma maligna di tumore sovratentoriale primitivo (sPNET), descritto per lo più nei bambini (meno del 10% dei casi interessa gli adulti), localizzato nella regione pineale del cervello, anche se può metastatizzare lungo il nevrasse. Dato che è il più aggressivo dei tumori parenchimali pineali, di solito comporta una prognosi sfavorevole."},"nl":{"name":"Pineoblastoom","synonyms":["Pinealoblastoom"],"definition":"Pineoblastoom is een zeldzaam, kwaadaardig type supratentoriale primitieve neuro-ectodermale tumor (sPNET) dat vooral wordt aangetroffen bij kinderen (minder dan 10% van de gevallen werden gerapporteerd bij volwassenen), en gesitueerd is in de regio van de epifyse in de hersenen maar kan uitzaaien langs de neuraxis. Aangezien dit de meest agressieve pineale parenchymale tumor is, is de geassocieerde prognose doorgaans ongunstig."},"pt":{"name":"Pineoblastoma"},"pl":{"name":"Szyszyniak zarodkowy"},"cs":{"name":"Pineoblastom"},"uk":{"name":"Пінеобластома","definition":"Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis."},"zh":{"name":"松果体母细胞瘤","definition":"松果体母细胞瘤是一种罕见的恶性幕上原始神经外胚层肿瘤(SPNET)，主要见于儿童(不到10%的病例发生在成人)，位于大脑的松果体区，但可沿神经轴转移。由于它是松果体实质肿瘤中最具侵袭性的，通常预后不良。"},"tr":{"name":"Pineoblastom"}},"xrefs":[{"source":"ICD-10","code":"C75.3","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"2A00.20","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1492986330"},{"source":"ICD-11","code":"XH1ZH1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1679690951"},{"source":"MONDO","code":"0016722","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0205898","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9369","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10050487","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":251905,"name":"Pineal tumor of neuroepithelial tissue","classifications":[181,202]}],"children":[],"genes":[],"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":"22033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-10-10","source":"12470168[PMID]_6986979[PMID]_21205817[PMID]_21536703[PMID]_21717450[PMID]_23876864[PMID]_2676297[PMID]","terms":[{"hpo":"HP:0010799","label":"Pinealoma","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002344","label":"Progressive neurologic deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100576","label":"Amaurosis fugax","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000619","label":"Impaired convergence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007045","label":"Midline brain calcifications","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001085","label":"Papilledema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003470","label":"Paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007987","label":"Progressive visual field defects","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009919","label":"Retinoblastoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004372","label":"Reduced consciousness","frequency":"Very rare (<4-1%)","criteria":null}]}}