{"orpha":64741,"name":"Pulmonary blastoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Pneumoblastoma"],"definition":"A biphasic primary lung neoplasm, belonging to the group of sarcomatoid lung carcinomas (SLCs). The tumor contains both an epithelial well-differentiated component, showing tubular architecture resembling the normal fetal lung, and a mesenchymal undifferentiated stroma with a so-called ''blastema-like'' configuration that resembles an embryonic lung.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-64741/","orphanet_url":"https://www.orpha.net/en/disease/detail/64741","names":{"fr":{"name":"Blastome pulmonaire","synonyms":["Pneumoblastome"],"definition":"Le blastome pulmonaire (BP) est une tumeur pulmonaire primaire biphasique appartenant au groupe des carcinomes sarcomatoïdes pulmonaires (CPS). La tumeur contient à la fois une composante épithéliale bien différenciée, montrant une architecture tubulaire ressemblant à un poumon foetal normal, et un stroma mésenchymateux indifférencié avec une configuration de type blastome ressemblant à un poumon embryonnaire."},"de":{"name":"Pulmonales Blastom","synonyms":["Pneumoblastom"],"definition":"Das pulmonale Blastom (PB) ist ein biphasisches primäres Lungenneoplasma, das zur Gruppe der sarkomatoiden Lungenkarzinome (SLCs; siehe dort) gehört. Der Tumor enthält sowohl eine epitheliale gut differenzierte Komponente mit tubulärer Architektur, die der normalen fötalen Lunge ähnelt, und ein mesenchymales undifferenziertes Stroma mit einer so genannten 'Blastema-artigen' Konfiguration, die einer embryonalen Lunge ähnelt."},"es":{"name":"Blastoma pulmonar","synonyms":["Pneumoblastoma"],"definition":"Es una neoplasia pulmonar bifásica primaria que pertenece al grupo de los carcinomas sarcomatoides de pulmón (SLCs, por sus siglas en inglés). El tumor presenta tanto un componente epitelial bien diferenciado, que muestra una arquitectura tubular similar a un pulmón fetal normal, como un estroma mesenquimal indiferenciado con una configuración denominada ''blastema-like'' que se asemeja a un pulmón embrionario."},"it":{"name":"Blastoma polmonare","synonyms":["Pneumoblastoma"],"definition":"Il blastoma (PB) polmonare è una neoplasia primitiva bifasica del polmone, appartenente al gruppo dei carcinomi polmonari sarcomatoidi (SLC; si veda questo termine). Il tumore contiene sia una componente epiteliale ben differenziata, che mostra un'architettura tubulare simile a quella del polmone fetale normale, che uno stroma mesenchimale indifferenziato, con una configurazione cosiddetta \"simile al blastema\", che assomiglia ad un polmone embrionale."},"nl":{"name":"Pulmonaal blastoom","synonyms":["Pneumoblastoom"],"definition":"Een bifasisch primair neoplasma van long dat behoort tot de groep van sarcomatoïde longcarcinomen (SLC's). De tumor bevat een goed gedifferentieerde epitheliale component die een buisvormige architectuur vertoont gelijkaardig aan een normale foetale long, en een mesenchymaal niet-gedifferentieerd stroma met een zogeheten \"blasteem-achtige\" configuratie die lijkt op een embryonale long."},"pt":{"name":"Pneumoblastoma","synonyms":["Blastoma pulmonar"]},"pl":{"name":"Blastoma płuc","synonyms":["Pneumoblastoma"]},"cs":{"name":"Plicní blastom","synonyms":["Pneumoblastom"]},"uk":{"name":"Бластома легень","synonyms":["Пневмобластома"],"definition":"A biphasic primary lung neoplasm, belonging to the group of sarcomatoid lung carcinomas (SLCs). The tumor contains both an epithelial well-differentiated component, showing tubular architecture resembling the normal fetal lung, and a mesenchymal undifferentiated stroma with a so-called ''blastema-like'' configuration that resembles an embryonic lung."},"zh":{"name":"肺胚细胞瘤","synonyms":["肺母细胞瘤"]},"tr":{"name":"Pulmoner blastom","synonyms":["Pnömoblastom"]}},"xrefs":[{"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":"611778949"},{"source":"ICD-11","code":"XH5VH1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1050293830"},{"source":"MONDO","code":"0005933","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D018202","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0206629","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":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":350.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.002,"area":"Belgium","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.005,"area":"Finland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.001,"area":"Germany","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.002,"area":"Italy","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.002,"area":"Netherlands","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100749","label":"Chest pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002105","label":"Hemoptysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100528","label":"Pleuropulmonary blastoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002113","label":"Pulmonary infiltrates","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null}]}}