{"orpha":97287,"name":"Bronchial neuroendocrine tumor","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Bronchial NET"],"definition":"A rare neuroendocrine neoplasm characterized by origin from pulmonary neuroendocrine cells and ranging from low-grade typical carcinoid and intermediate-grade atypical carcinoid to high-grade large-cell neuroendocrine carcinoma and small-cell carcinoma. Two thirds of the tumors are located in the major bronchi, with a predilection for the right lung, in particular the middle lobe. Most patients with central bronchial tumors present with hemoptysis, cough, recurrent pulmonary infections, fever, chest discomfort, and unilateral wheezing, while peripheral carcinoids are usually discovered only incidentally. Carcinoid syndrome or Cushing syndrome are very rare. The tumors may be part of multiple endocrine neoplasia type 1.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97287/","orphanet_url":"https://www.orpha.net/en/disease/detail/97287","names":{"fr":{"name":"Tumeur neuroendocrine bronchique","definition":"Néoplasme neuroendocrine rare se développant à partir des cellules neuroendocrines des poumons, dont la sévérité varie d'une tumeur carcinoïde typique de bas grade et d'une tumeur carcinoïde atypique de grade intermédiaire à un carcinome neuroendocrine à grandes cellules de haut grade et un carcinome à petites cellules de haut grade. Les deux tiers des tumeurs sont situés dans les bronches principales, avec une prédilection pour le poumon droit et plus particulièrement pour le lobe moyen. La plupart des patients atteints d'une tumeur bronchique prenant naissance dans la partie centrale du poumon présentent les signes suivants : hémoptysie, toux, infections pulmonaires récurrentes, fièvre, douleurs de poitrine et respiration sifflante unilatérale. Les tumeurs carcinoïdes périphériques sont, quant à elles, habituellement diagnostiquées de manière fortuite. Les cas de syndrome carcinoïde et de syndrome de Cushing sont très rares. Les tumeurs peuvent apparaître en cas de néoplasie endocrinienne multiple type 1."},"de":{"name":"Tumor, neuroendokriner, bronchialer","synonyms":["Bronchialer NET"],"definition":"Eine seltene neuroendokrine Neoplasie, die von den neuroendokrinen Zellen der Lunge ausgeht und von niedriggradigen typischen Karzinoiden und mittelgradigen atypischen Karzinoiden bis zu hochgradigen großzelligen neuroendokrinen Karzinomen und kleinzelligen Karzinomen reicht. Zwei Drittel der Tumoren sind in den Hauptbronchien lokalisiert, mit einer Präferenz für die rechte Lunge, insbesondere den Mittellappen. Die meisten Patienten mit zentralen Bronchialtumoren zeigen Bluthusten, rezidivierende Lungeninfektionen, Fieber, Brustschmerzen und einseitiges Keuchen, während periphere Karzinoide meist nur zufällig entdeckt werden. Ein Karzinoid- oder Cushing-Syndrom ist sehr selten. Die Tumoren können Teil einer multiplen endokrinen Neoplasie Typ 1 sein."},"es":{"name":"Tumor neuroendocrino bronquial","synonyms":["TNE bronquial"],"definition":"Es una neoplasia neuroendocrina poco frecuente caracterizada por su origen a partir de células neuroendocrinas pulmonares, que varía desde un carcinoide típico de grado bajo y un carcinoide atípico de grado intermedio hasta un carcinoma neuroendocrino de células grandes y un carcinoma de células pequeñas de alto grado. Dos tercios de los tumores se localizan en los bronquios principales, con una mayor predilección por el pulmón derecho, particularmente por el lóbulo medio. La mayoría de los pacientes con tumores bronquiales centrales se presentan con hemoptisis, tos, infecciones pulmonares recurrentes, fiebre, molestias torácicas y sibilancias unilaterales, mientras que los carcinoides periféricos suelen detectarse únicamente de forma incidental. El síndrome carcinoide o el síndrome de Cushing son muy poco frecuentes. Los tumores pueden formar parte de una neoplasia endocrina múltiple tipo 1."},"it":{"name":"Tumore neuroendocrino dei bronchi","synonyms":["NET bronchiale"],"definition":"Si tratta di una neoplasia neuroendocrina rara, che origina dalle cellule neuroendocrine polmonari; comprende il carcinoide tipico di basso grado, il carcinoide atipico di grado intermedio, il carcinoma neuroendocrino a grandi cellule di alto grado e il carcinoma a piccole cellule. Due terzi dei tumori si localizzano nei bronchi principali, con una predilezione per il polmone destro, in particolare il lobo medio. La maggior parte dei pazienti con tumori bronchiali centrali presenta emottisi, tosse, infezioni polmonari ricorrenti, febbre, fastidio al torace e affanno monolaterale, mentre i carcinoidi periferici di solito vengono scoperti casualmente. La sindrome del carcinoide e la sindrome di Cushing sono molto rare. I tumori possono rientrare nel quadro della neoplasia endocrina multipla tipo 1."},"nl":{"name":"Bronchiale neuro-endocriene tumor","synonyms":["Bronchiale NET"],"definition":"Een zeldzaam neuro-endocrien neoplasma, gekarakteriseerd door een oorsprong in pulmonale neuro-endocriene cellen en gaande van laaggradig typisch carcinoïd en intermediair atypisch carcinoïd tot hooggradig grootcellig neuro-endocrien carcinoom en kleincellig carcinoom. Twee derde van de tumoren zijn gesitueerd in de hoofdbronchiën, met een voorkeur voor de rechterlong, vooral in de middelste longkwab. De meeste patiënten met centrale bronchiale tumoren presenteren zich met hemoptoë, hoest, recidiverende longinfecties, koorts, thoracaal ongemak, en unilaterale piepende ademhaling, terwijl perifere carcinoïden meestal maar toevallig ontdekt worden. Carcinoïdsyndroom en syndroom van Cushing zijn zeer zeldzaam. De tumoren kunnen deel uitmaken van multipele endocriene neoplasie type 1."},"pt":{"name":"Tumor endócrino brônquico"},"pl":{"name":"Guz endokrynny oskrzeli","synonyms":["Bronchial NET"]},"cs":{"name":"Bronchiální endokrinní nádor","synonyms":["Karcinoid bronchů","Neuroendokrinní nádor bronchů"]},"uk":{"name":"Нейроендокринна пухлина бронхів","synonyms":["Бронхіальна мережа"],"definition":"A rare neuroendocrine neoplasm characterized by origin from pulmonary neuroendocrine cells and ranging from low-grade typical carcinoid and intermediate-grade atypical carcinoid to high-grade large-cell neuroendocrine carcinoma and small-cell carcinoma. Two thirds of the tumors are located in the major bronchi, with a predilection for the right lung, in particular the middle lobe. Most patients with central bronchial tumors present with hemoptysis, cough, recurrent pulmonary infections, fever, chest discomfort, and unilateral wheezing, while peripheral carcinoids are usually discovered only incidentally. Carcinoid syndrome or Cushing syndrome are very rare. The tumors may be part of multiple endocrine neoplasia type 1."},"zh":{"name":"支气管神经内分泌肿瘤","synonyms":["支气管NET"]},"tr":{"name":"Bronşiyal nöroendokrin tümör","synonyms":["Bronşiyal NET"]}},"xrefs":[{"source":"ICD-10","code":"C34.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2C25.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1013574634"},{"source":"MONDO","code":"0019963","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19963","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1334452","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":100101,"name":"Neuroendocrine tumor with other location","classifications":[193,202]},{"orpha":101945,"name":"Rare bronchopulmonary and pleural cavity tumors","classifications":[184,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-08","source":"27373769[PMID]_18473355[PMID]_2992742[PMID]_12371583[PMID]_22112810[PMID]_11073802[PMID]","terms":[{"hpo":"HP:0030445","label":"Pulmonary carcinoid tumor","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0006530","label":"Abnormal pulmonary interstitial morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002730","label":"Chronic noninfectious lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002105","label":"Hemoptysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031246","label":"Nonproductive cough","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004396","label":"Poor appetite","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030828","label":"Wheezing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031566","label":"Abnormal pulmonary valve cusp morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012701","label":"Bowel urgency","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:4000007","label":"Bronchoconstriction","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030149","label":"Cardiogenic shock","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001005","label":"Dermatological manifestations of systemic disorders","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000845","label":"Elevated circulating growth hormone concentration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007380","label":"Facial telangiectasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003154","label":"Increased circulating ACTH level","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003118","label":"Increased circulating cortisol level","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003144","label":"Increased serum serotonin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030166","label":"Night sweats","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004385","label":"Protracted diarrhea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001708","label":"Right ventricular failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Very rare (<4-1%)","criteria":null}]}}