{"orpha":64742,"name":"Pleuropulmonary blastoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare respiratory tumor characterized by an aggressive, malignant, dysontogenetic neoplasm of intrathoracic (pulmonary, pleural, or combined) mesenchyme occurring in young children. Three subtypes can be distinguished, type 1 being purely cystic, type 2 cystic and solid, and type 3 purely solid. Type 1 lesions may progress to the more malignant types 2 and 3, which are associated with central nervous system and bone metastasis. The tumor is often part of pleuropulmonary blastoma family tumor and dysplasia syndrome. It can also be associated with multilocular cystic nephroma or other neoplasms. Patients usually present with dyspnea or other respiratory problems, and sometimes pneumothorax.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-64742/","orphanet_url":"https://www.orpha.net/en/disease/detail/64742","names":{"fr":{"name":"Blastome pleuropulmonaire","definition":"Tumeur respiratoire rare caractérisée par une tumeur d'origine dysontogénétique, maligne et agressive de la partie intrathoracique du mésenchyme pulmonaire, pleural ou des deux, survenant chez le jeune enfant. On distingue trois types : tumeur exclusivement kystique (type 1), tumeur kystique et solide (type 2) et tumeur exclusivement solide (type 3). Les lésions de type 1 peuvent progresser vers les types 2 et 3, plus malins et associés à des métastases osseuses et au niveau du système nerveux central. La tumeur fait souvent partie de la famille des blastomes pleuropulmonaires et des syndromes avec dysplasie. Elle peut aussi être associée à un néphrome kystique multiloculaire ou à d'autres tumeurs. Les patients présentent généralement une dyspnée ou d'autres problèmes respiratoires, et parfois un pneumothorax."},"de":{"name":"Pleuro-pulmonales Blastom","definition":"Ein seltener Tumor der Atemwege, der durch eine aggressive, maligne, dysontogenetische Neoplasie des intrathorakalen (pulmonalen, pleuralen oder kombinierten) Mesenchyms gekennzeichnet ist und bei Kleinkindern auftritt. Es lassen sich drei Subtypen unterscheiden: Typ 1 ist rein zystisch, Typ 2 zystisch und solide und Typ 3 rein solide. Läsionen vom Typ 1 können sich zu den bösartigeren Typen 2 und 3 entwickeln, die mit Metastasen im zentralen Nervensystem und in den Knochen einhergehen. Der Tumor ist häufig Teil des Tumor- und Dysplasiesyndroms der pleuropulmonalen Blastomfamilie. Er kann auch mit multilokulären zystischen Nephromen oder anderen Neoplasien assoziiert sein. Die Patienten präsentieren sich in der Regel mit Dyspnoe oder anderen Atemproblemen und manchmal mit Pneumothorax."},"es":{"name":"Blastoma pleuropulmonar","synonyms":["Blastoma pleuro-pulmonar"],"definition":"Es un tumor respiratorio poco frecuente caracterizado por una neoplasia disontogénica maligna agresiva del mesénquima intratorácico (pulmonar, pleural o mixta) que se presenta en la infancia temprana. Puede distinguirse tres subtipos, el tipo 1 es puramente quístico, el tipo 2 quístico y sólido, y el tipo 3 exclusivamente sólido. Las lesiones de tipo 1 pueden progresar a los tipos 2 y 3 más malignos, que asocian metástasis óseas y del sistema nervioso central. El tumor suele formar parte del síndrome de predisposición tumoral familiar al blastoma pleuropulmonar y displasia. También puede asociar nefroma quístico multilocular u otras neoplasias. Los pacientes suelen manifestar disnea u otros problemas respiratorios y, en ocasiones, neumotórax."},"it":{"name":"Blastoma pleuropolmonare","definition":"Si tratta di un tumore raro delle vie respiratorie, caratterizzato da una neoplasia aggressiva, maligna e disontogenetica del mesenchima intratoracico (polmonare, pleurico o combinato) che colpisce i bambini piccoli. Si distinguono tre sottotipi della malattia: il tipo 1 è puramente cistico, il tipo 2 è cistico e solido, e il tipo 3 è puramente solido. Le lesioni di tipo 1 possono progredire verso i tipi 2 e 3, che sono maggiormente maligni, e si associano a metastasi al sistema nervoso centrale e alle ossa. Il tumore rientra spesso nel quadro clinico della sindrome da suscettibilità familiare al blastoma pleuropolmonare e alla displasia. Può anche associarsi al nefroma cistico multiloculare e ad altre neoplasie. In genere i pazienti presentano dispnea o altri problemi respiratori e, talvolta, pneumotorace."},"nl":{"name":"Pleuropulmonaal blastoom","definition":"Een zeldzame tumor van luchtwegen, gekarakteriseerd door een agressief, maligne, dysontogenetisch neoplasma van intrathoracaal (pulmonaal, pleuraal, of gecombineerd) mesenchym dat voorkomt bij jonge kinderen. Er worden drie subtypes onderscheiden: type 1 is zuiver cystisch, type 2 is cystisch en solide, en type 3 is zuiver solide. Type 1 laesies kunnen evolueren tot de meer maligne types 2 en 3, die geassocieerd zijn met metastase naar centraal zenuwstelsel en bot. De tumor maakt vaak deel uit van familiaal tumorpredispositiesyndroom voor pleuropulmonaal blastoom en dysplasiesyndroom. Het kan ook geassocieerd zijn met multiloculair cystisch nefroom of andere neoplasmata. Patiënten presenteren zich meestal met dyspneu of andere ademhalingsproblemen, en soms met klaplong."},"pt":{"name":"Blastoma pleuro-pulmonar"},"pl":{"name":"Blastoma płuc i opłucnej"},"cs":{"name":"Pleuropulmonální blastom"},"uk":{"name":"Плевропульмонарна бластома","definition":"A rare respiratory tumor characterized by an aggressive, malignant, dysontogenetic neoplasm of intrathoracic (pulmonary, pleural, or combined) mesenchyme occurring in young children. Three subtypes can be distinguished, type 1 being purely cystic, type 2 cystic and solid, and type 3 purely solid. Type 1 lesions may progress to the more malignant types 2 and 3, which are associated with central nervous system and bone metastasis. The tumor is often part of pleuropulmonary blastoma family tumor and dysplasia syndrome. It can also be associated with multilocular cystic nephroma or other neoplasms. Patients usually present with dyspnea or other respiratory problems, and sometimes pneumothorax."},"zh":{"name":"胸膜肺母细胞瘤"},"tr":{"name":"Plöropulmoner blastom"}},"xrefs":[{"source":"OMIM","code":"601200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C34.1","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C34.2","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C34.3","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C34.8","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C34.9","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2C25.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1735332142"},{"source":"ICD-11","code":"XH2FY9","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1159496549"},{"source":"MONDO","code":"0011014","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537516","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1266144","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8757","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10080682","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":101945,"name":"Rare bronchopulmonary and pleural cavity tumors","classifications":[184,202]}],"children":[{"orpha":284343,"name":"DICER1 tumor-predisposition syndrome","type":"Disease"},{"orpha":284362,"name":"Fetal lung interstitial tumor","type":"Clinical subtype"},{"orpha":99933,"name":"Pleuropulmonary blastoma type 1","type":"Clinical subtype"},{"orpha":99934,"name":"Pleuropulmonary blastoma type 2","type":"Clinical subtype"},{"orpha":99935,"name":"Pleuropulmonary blastoma type 3","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}