{"orpha":506136,"name":"Neuroendocrine neoplasm of esophagus","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Esophageal NEN","Esophageal neuroendocrine neoplasm","NEN of esophagus"],"definition":"A group of esophageal epithelial neoplasms characterized by neuroendocrine differentiation, comprising well-differentiated neuroendocrine tumors (NETs), poorly differentiated neuroendocrine carcinomas (NECs), and mixed neuroendocrine-non-neuroendocrine neoplasms, an umbrella category including mixed adenoneuroendocrine carcinoma. The tumors typically occur in the lower esophagus, often in association with Barrett mucosa. NECs may also arise in other parts of the esophagus. On endoscopy, NETs usually appear as small polypoid or nodular submucosal masses, while NECs are large, infiltrative, and ulcerated. Patients most commonly present with dysphagia, pain, weight loss, and sometimes melena. Metastatic NETs may be associated with carcinoid syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-506136/","orphanet_url":"https://www.orpha.net/en/disease/detail/506136","names":{"fr":{"name":"Néoplasme neuroendocrine de l'oesophage","synonyms":["NEN de l'oesophage"],"definition":"Groupe de néoplasmes épithéliaux de l'oesophage caractérisés par une différenciation neuroendocrine, comprenant des tumeurs neuroendocrines bien différenciées (TNE), des carcinomes neuroendocrines peu différenciés (NEC) et des néoplasmes mixtes neuroendocriniens et non neuroendocriniens, une catégorie générale comprenant le carcinome mixte adénoneuroendocrine. Les tumeurs se situent généralement dans la partie inférieure de l'oesophage, souvent en association avec la muqueuse de Barrett. Les NEC peuvent également apparaître dans d'autres parties de l'oesophage. À l'endoscopie, les TNE apparaissent généralement sous la forme de petites masses sous-muqueuses polypoïdes ou nodulaires, tandis que les NEC sont de grande taille, infiltrées et ulcérées. La plupart des patients présentent une dysphagie, des douleurs, une perte de poids et parfois un méléna. Les TNE métastatiques peuvent être associées au syndrome carcinoïde."},"de":{"name":"Neuroendokrine Neoplasie des Ösophagus","synonyms":["NEN des Oesophagus","Neoplasie, neuroendokrine oesophageale"],"definition":"Eine Gruppe von epithelialen Neoplasien des Ösophagus mit neuroendokriner Differenzierung, die gut differenzierte neuroendokrine Tumoren (NETs), schlecht differenzierte neuroendokrine Karzinome (NECs) und gemischte neuroendokrine/nicht-neuroendokrine Neoplasien, einschließlich des gemischten adenoneuroendokrinen Karzinoms umfassen. Die Tumoren treten typischerweise im unteren Ösophagus auf, häufig in Verbindung mit einem Barrett-Ösophagus. NETs können auch in anderen Teilen der Speiseröhre auftreten. In der Endoskopie erscheinen NETs in der Regel als kleine polypoide oder knotige submuköse Gewebeverdichtungen, während NECs groß, infiltrativ und ulzeriert sind. Die Patienten präsentieren sich am häufigsten mit Dysphagie, Schmerzen, Gewichtsverlust und manchmal Meläna. Metastasierende NET können mit einem Karzinoidsyndrom einhergehen."},"es":{"name":"Neoplasia neuroendocrina del esófago","synonyms":["NEN del esófago","NEN esofágica","Neoplasia neuroendocrina esofágica"],"definition":"Es un grupo de neoplasias epiteliales del esófago caracterizadas por una diferenciación neuroendocrina, que comprende tumores neuroendocrinos bien diferenciados (TNE), carcinomas neuroendocrinos poco diferenciados (CNE) y neoplasias mixtas neuroendocrinas y no neuroendocrinas, un grupo general que incluye el carcinoma adenoneuroendocrino mixto. Los tumores suelen aparecer en la parte inferior del esófago, a menudo asociados a mucosa de Barrett. Aunque los CNE también pueden surgir en otras partes del esófago. En la endoscopia, los TNE suelen aparecer como pequeñas masas submucosas polipoides o nodulares, mientras que los CNE son grandes, infiltrativos y ulcerados. Los pacientes se presentan, por lo general, con disfagia, dolor, pérdida de peso y, en ocasiones, melena. Los TNE metastásicos pueden estar asociados a síndrome carcinoide."},"it":{"name":"Neoplasia neuroendocrina dell'esofago","definition":"Si tratta di un gruppo di neoplasie epiteliali dell'esofago, con differenziazione neuroendocrina, che comprende i tumori neuroendocrini ben differenziati (NET), i carcinomi neuroendocrini scarsamente differenziati (NEC) e le neoplasie miste neuroendocrine-non neuroendocrine, una categoria ombrello che comprende il carcinoma misto adeno-neuroendocrino. Di solito i tumori si localizzano nella porzione inferiore dell'esofago, e spesso si associano all'esofago di Barrett. I NEC possono insorgere anche in altre parti dell'esofago. All'endoscopia, i NET di solito hanno l'aspetto di piccole masse sottomucose polipoidi o nodulari, mentre i NEC hanno dimensioni più grandi, sono infiltranti e ulcerati. Di solito i pazienti presentano disfagia, dolore, perdita di peso e, talvolta, melena. I NET metastatici possono associarsi alla sindrome del carcinoide."},"nl":{"name":"Neuro-endocrien neoplasma van oesofagus","synonyms":["NEN van oesofagus","Neuro-endocrien neoplasma van slokdarm","Oesofageaal NEN","Oesofageaal neuro-endocrien neoplasma"],"definition":"Een groep van epitheliale neoplasmata van oesofagus, gekarakteriseerd door neuro-endocriene differentiatie, en bestaande uit goed gedifferentieerde neuro-endocriene tumoren (NET's), slecht gedifferentieerde neuro-endocriene carcinomen (NEC's), en gemengde neuro-endocriene en niet-neuro-endocriene neoplasmata, een overkoepelende categorie met onder meer gemengd adenoneuro-endocrien carcinoom. De tumoren komen doorgaans voor in het onderste deel van de slokdarm, vaak in associatie met Barrett-mucosa. NEC's kunnen ook ontstaan in andere delen van oesofagus. Bij endoscopie verschijnen NET's meestal als een kleine polypoïde of nodulaire submucosale massa, terwijl NEC's groot, infiltratief en geülcereerd zijn. Patiënten presenteren zich doorgaans met dysfagie, pijn, gewichtsverlies, en soms melena. Metastatische NET's kunnen geassocieerd zijn met carcinoïdsyndroom."},"pt":{"name":"Neoplasia neuroendócrina do esófago"},"pl":{"name":"Rak neuroendokrynny przełyku","synonyms":["Esophageal NEN","Esophageal neuroendocrine neoplasm","NEN of esophagus"]},"cs":{"name":"Neuroendokrinní novotvar jícnu","synonyms":["NEN jícnu"]},"uk":{"name":"Нейроендокринне новоутворення стравоходу","synonyms":["Стравохідний NEN","Нейроендокринна пухлина стравоходу","NEN стравоходу"],"definition":"A group of esophageal epithelial neoplasms characterized by neuroendocrine differentiation, comprising well-differentiated neuroendocrine tumors (NETs), poorly differentiated neuroendocrine carcinomas (NECs), and mixed neuroendocrine-non-neuroendocrine neoplasms, an umbrella category including mixed adenoneuroendocrine carcinoma. The tumors typically occur in the lower esophagus, often in association with Barrett mucosa. NECs may also arise in other parts of the esophagus. On endoscopy, NETs usually appear as small polypoid or nodular submucosal masses, while NECs are large, infiltrative, and ulcerated. Patients most commonly present with dysphagia, pain, weight loss, and sometimes melena. Metastatic NETs may be associated with carcinoid syndrome."},"zh":{"name":"食管神经内分泌肿瘤","synonyms":["小肠神经内分泌肿瘤"]},"tr":{"name":"Özofagus nöroendokrin neoplazmı","synonyms":["Özofageal NEN","Özofagusa ait NEN","Özofagus nöroendokrin neoplazmı"]}},"xrefs":[{"source":"ICD-10","code":"C15.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B70.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"890879256"},{"source":"MONDO","code":"0003649","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1333462","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":481508,"name":"Gastroenteric neuroendocrine neoplasm","classifications":[193,202]},{"orpha":180821,"name":"Rare gastroesophageal tumor","classifications":[152,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}