{"orpha":677,"name":"Pancreatoblastoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare neoplastic gastroenterologic disease most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting, abdominal pain, jaundice, and weight loss/failure to thrive. Histologically, this malignant epithelial pancreatic neoplasm of the exocrine cells is characterized by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-677/","orphanet_url":"https://www.orpha.net/en/disease/detail/677","names":{"fr":{"name":"Pancréatoblastome","definition":"Maladie gastroentérologique néoplasique rare, le plus souvent observée chez les enfants, se manifestant généralement par des symptômes non spécifiques : masse palpable, vomissements, douleur abdominale, ictère et perte de poids/retard de croissance staturo-pondérale. Sur le plan histologique, cette néoplasie épithéliale pancréatique maligne des cellules exocrines est caractérisée par la différenciation de lignées multiples (acineuse, ductale, mésenchymateuse, neuroendocrine) et par la présence de nids squamoïdes."},"de":{"name":"Pankreasblastom","definition":"Eine seltene neoplastische gastroenterologische Erkrankung, die am häufigsten bei Kindern vorkommt und sich meist mit den unspezifischen Symptomen einer tastbaren Masse, Erbrechen, Bauchschmerzen, Gelbsucht und Gewichtsverlust/Durchfall präsentiert. Histologisch ist diese maligne epitheliale Pankreasneoplasie der exokrinen Zellen durch mehrere Differenzierungslinien (azinär, duktal, mesenchymal, neuroendokrin) und das Vorhandensein von Squamoid-Nestern gekennzeichnet."},"es":{"name":"Pancreatoblastoma","definition":"Es una enfermedad gastroenterológica neoplásica poco frecuente, habitualmente hallada en niños que, por lo general, se presenta con síntomas inespecíficos de masa palpable, dolor abdominal, vómitos, ictericia, y pérdida de peso/ fallo de medro. Histológicamente está caracterizado por múltiples líneas de diferenciación (acinar, ductal, mesenquimal, neuroendocrina) y por la presencia de nidos de células escamosas."},"it":{"name":"Pancreatoblastoma","definition":"Si tratta di una neoplasia gastroenterologica rara, che colpisce prevalentemente i bambini e di solito esordisce con sintomi aspecifici (massa addominale palpabile, vomito, dolore addominale, ittero e perdita di peso/ritardo della crescita). Dal punto di vista istologico, si tratta di una neoplasia pancreatica epiteliale maligna delle cellule esocrine, caratterizzata da linee multiple di differenziazione (acinare, duttale, mesenchimale e neuroendocrina) e dalla presenza di nidi squamoidi."},"nl":{"name":"Pancreatoblastoom","definition":"Een zeldzame, neoplastische, gastro-enterologische ziekte die het vaakst wordt aangetroffen bij kinderen en meestal tot uiting komt met niet-specifieke symptomen als tastbare massa, braken, abdominale pijn, geelzucht, en gewichtsverlies/groeiachterstand. Histologisch wordt dit kwaadaardig epitheliaal neoplasma van exocriene cellen van de pancreas gekarakteriseerd door verschillende differentiatielijnen (acinair, ductaal, mesenchymaal, neuro-endocrien) en de aanwezigheid van begrensde groepen van plaveiselcellen."},"pt":{"name":"Pancreatoblastoma"},"pl":{"name":"Pankreatoblastoma"},"cs":{"name":"Pankreatoblastom"},"uk":{"name":"Панкреатобластома","definition":"A rare neoplastic gastroenterologic disease most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting, abdominal pain, jaundice, and weight loss/failure to thrive. Histologically, this malignant epithelial pancreatic neoplasm of the exocrine cells is characterized by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests."},"zh":{"name":"胰母细胞瘤"},"tr":{"name":"Pankreatoblastom"}},"xrefs":[{"source":"ICD-10","code":"C25.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2C10.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"733863058"},{"source":"ICD-11","code":"XH27L5","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1310236105"},{"source":"MONDO","code":"0019035","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537162","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0334489","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4210","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10073367","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":424033,"name":"Rare epithelial tumor of pancreas","classifications":[152,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":60.0,"area":"Worldwide","status":"Validated","source":"16080945[PMID]"},{"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":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.008,"area":"Bulgaria","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.013,"area":"Czech Republic","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":"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":0.001,"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":0.016,"area":"Latvia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.004,"area":"Lithuania","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.008,"area":"Poland","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":"Portugal","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":"Netherlands","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":"United Kingdom","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-30","source":"22743113[PMID]_21696948[PMID]","terms":[{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011432","label":"Elevated maternal circulating alpha-fetoprotein concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005213","label":"Pancreatic calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002733","label":"Abnormality of the lymph nodes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null}]}}