{"orpha":418951,"name":"Undifferentiated carcinoma of esophagus","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Undifferentiated esophageal carcinoma"],"definition":"A rare, aggressive, malignant, epithelial carcinoma of the esophagus characterized, macroscopically, by an exophytic mass with central ulceration located on the esophagus and, histologically, by a sheet-like growth of neoplastic cells without significant glandular, squamous or neuroendocrine differentiation. Patients may present with progressive dysphagia, long-standing history of gastroesophageal reflux, weight loss, anemia, abdominal or chest pain/pressure, dyspnea, and/or hematemesis. Presence or history of Barrett esophagus is frequently associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-418951/","orphanet_url":"https://www.orpha.net/en/disease/detail/418951","names":{"fr":{"name":"Carcinome indifférencié de l'oesophage","definition":"Carcinome épithélial malin, agressif et rare de l'oesophage caractérisé, sur le plan macroscopique, par une masse exophytique avec ulcération centrale située sur l'oesophage et, sur le plan histologique, par une croissance des cellules néoplasiques en tapis cellulaire, sans différentiation glandulaire, squameuse ou neuroendocrine significatives. Les patients peuvent présenter une dysphagie progressive, des antécédents de longue date de reflux gastro-oesophagien, une perte de poids, une anémie, une pression ou des douleurs abdominales ou thoraciques, une dyspnée et/ou une hématémèse. Des antécédents d'endobrachyoesophage sont fréquemment associés."},"de":{"name":"Ösophaguskarzinom, undifferenziertes","synonyms":["Undifferenzierter Speiseröhrenkrebs"]},"es":{"name":"Carcinoma indiferenciado de esófago","synonyms":["Carcinoma esofágico indiferenciado"],"definition":"Es un carcinoma esofágico epitelial maligno, agresivo y poco frecuente, caracterizado macroscópicamente por una masa exofítica con ulceración central localizada en el esófago e, histológicamente, por un crecimiento laminar de células neoplásicas sin diferenciación glandular, escamosa o neuroendocrina significativa. Los pacientes pueden presentar disfagia progresiva, un largo historial de reflujo gastroesofágico, pérdida de peso, anemia, dolor / presión abdominal o torácica, disnea y/o hematemesis. Esta enfermedad se asocia con frecuencia a la presencia, o antecedentes, de esófago de Barrett."},"it":{"name":"Carcinoma non differenziato dell'esofago","synonyms":["Carcinoma esofageo non differnziato"],"definition":"È un carcinoma epiteliale maligno aggressivo raro dell'esofago caratterizzato, dal punto di vista microscopico, da una massa esofitica con ulcerazione centrale, localizzata nell'esofago; dal punto di vista istologico, presenta una crescita sotto forma di strati di cellule neoplastiche, in assenza di una significativa differenziazione ghiandolare, squamosa o neuroendocrina. I pazienti presentano disfagia progressiva, persistente reflusso gastro-esofageo, perdita di peso, anemia, dolore/pressione addominale o toracica, dispnea e/o ematemesi. Spesso si associa all'esofago di Barrett o a un'anamnesi positiva per tale condizione."},"nl":{"name":"Ongedifferentieerd carcinoom van oesofagus","synonyms":["Ongedifferentieerd oesofageaal carcinoom"],"definition":"Een zeldzaam, agressief, kwaadaardig epitheelcarcinoom van de oesofagus dat macroscopisch gekarakteriseerd wordt door een exofytische massa met centrale ulceratie gesitueerd op de slokdarm, en histologisch door een laminaire groei van neoplastische cellen zonder significante glandulaire, squameuze of neuro-endocriene differentiatie. Patiënten vertonen mogelijk progressieve dysfagie, langdurige voorgeschiedenis van gastro-oesofageale reflux, gewichtsverlies, anemie, pijn/druk in de buik of borst, dyspneu, en/of hematemese (bloedbraken). Frequent is een voorgeschiedenis van Barrett slokdarm geassocieerd."},"pt":{"name":"Carcinoma indiferenciado do esófago"},"pl":{"name":"Niezróżnicowany rak przełyku","synonyms":["Undifferentiated esophageal carcinoma"]},"cs":{"name":"Nediferencovaný karcinom jícnu","synonyms":["Nediferencovaný ezofageální karcinom"]},"uk":{"name":"Недиференційована карцинома стравоходу","synonyms":["Недиференційована карцинома стравоходу"],"definition":"A rare, aggressive, malignant, epithelial carcinoma of the esophagus characterized, macroscopically, by an exophytic mass with central ulceration located on the esophagus and, histologically, by a sheet-like growth of neoplastic cells without significant glandular, squamous or neuroendocrine differentiation. Patients may present with progressive dysphagia, long-standing history of gastroesophageal reflux, weight loss, anemia, abdominal or chest pain/pressure, dyspnea, and/or hematemesis. Presence or history of Barrett esophagus is frequently associated."},"zh":{"name":"食管未分化癌","synonyms":["未分化型食管癌"],"definition":"食管上皮癌一种罕见的，侵袭性，恶性的上皮癌，从宏观上来说，其特征是位于食道的中央有溃疡的外生性肿块，在组织学上，是呈片状生长的肿瘤细胞，没有明显的腺体、鳞状或神经内分泌的分化。患者可能出现进行性吞咽困难，长期存在胃食管反流，体重减轻，贫血，腹部或胸部疼痛感或压力感，呼吸困难和/或呕血。通常合并巴雷特食管。"},"tr":{"name":"Özofagusun farklılaşmamış karsinomu","synonyms":["Farklılaşmamış özofageal karsinomu"]}},"xrefs":[{"source":"ICD-10","code":"C15.0","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C15.1","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C15.2","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C15.3","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C15.4","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C15.5","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C15.8","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B70.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018481","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2188058","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":70482,"name":"Carcinoma of esophagus","classifications":[152,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.044,"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":0.029,"area":"Austria","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.077,"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":0.027,"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":0.006,"area":"Croatia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.115,"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":0.037,"area":"Estonia","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":"Finland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.118,"area":"France","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.042,"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":0.085,"area":"Iceland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.012,"area":"Ireland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.041,"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":0.087,"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":0.021,"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":0.038,"area":"Norway","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.101,"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":0.021,"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":0.082,"area":"Slovakia","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":"Slovenia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.051,"area":"Spain","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.023,"area":"Switzerland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.025,"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":0.039,"area":"United Kingdom","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":null}