{"orpha":100083,"name":"Laryngeal neuroendocrine tumor","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare head and neck tumor characterized by an epithelial neoplasm with evidence of neuroendocrine differentiation, typically located in the supraglottic larynx. The tumor can be well, moderately, or poorly differentiated, the latter group being subdivided into small cell or large cell neuroendocrine carcinomas. There is a strong association with tobacco use. Patients present with hoarseness, dysphagia, sore throat, airway obstruction, hemoptysis, and rarely a paraneoplastic syndrome due to aberrant hormone production. Poorly differentiated tumors are highly aggressive with high rates of regional and distant metastasis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100083/","orphanet_url":"https://www.orpha.net/en/disease/detail/100083","names":{"fr":{"name":"Tumeur neuroendocrine du larynx","definition":"Tumeur rare de la tête et du cou caractérisée par un néoplasme épithélial avec signes de différenciation neuroendocrine, généralement localisée dans la région supraglottique du larynx. La tumeur peut être bien, modérément ou peu différenciée, le dernier groupe étant sous-divisé en carcinomes neuroendocrines à petites cellules et en carcinomes neuroendocrines à grandes cellules. Ce type de tumeurs est fortement associé au tabagisme. Les patients présentent une raucité de la voix, une dysphagie, des maux de gorge, une obstruction des voies respiratoires, une hémoptysie et, dans de rares cas, un syndrome paranéoplasique en raison d'une sécrétion anormale d'hormones. Les tumeurs peu différenciées sont très agressives et présentent des taux élevés de métastases régionales et à distance."},"de":{"name":"Tumor, neuroendokriner, des Larynx","definition":"Ein seltener Kopf-Hals-Tumor, bei dem es sich um eine epitheliale Neoplasie mit Anzeichen einer neuroendokrinen Differenzierung handelt, die typischerweise im supraglottischen Kehlkopf lokalisiert ist. Der Tumor kann gut, mäßig oder schlecht differenziert sein, wobei die letztere Gruppe in kleinzellige oder großzellige neuroendokrine Karzinome unterteilt wird. Es besteht ein enger Zusammenhang mit Tabakkonsum. Die Patienten präsentieren sich mit Heiserkeit, Dysphagie, Halsschmerzen, Atemwegsobstruktion, Hämoptyse und selten mit einem paraneoplastischen Syndrom aufgrund einer abnormen Hormonproduktion. Schlecht differenzierte Tumoren sind sehr aggressiv und weisen eine hohe Rate an regionalen und entfernten Metastasen auf."},"es":{"name":"Tumor neuroendocrino de laringe","definition":"Es un tumor poco frecuente de cabeza y cuello caracterizado por una neoplasia epitelial con evidencia de diferenciación neuroendocrina, localizado típicamente en la laringe supraglótica. El tumor puede estar bien, moderadamente o poco diferenciado, dividiéndose este último grupo en carcinomas neuroendocrinos de células pequeñas o de células grandes. Se ha descrito una fuerte asociación con el consumo de tabaco. Los pacientes debutan con ronquera, disfagia, dolor de garganta, obstrucción de las vías respiratorias, hemoptisis y, excepcionalmente, un síndrome paraneoplásico debido a la producción anómala de hormonas. Los tumores pobremente diferenciados son muy agresivos, con una elevada tasa de metástasis locorregionales y a distancia."},"it":{"name":"Tumore endocrino della laringe","definition":"Si tratta di un tumore raro della testa e del collo, caratterizzato da una neoplasia epiteliale con differenziazione neuroendocrina, di solito localizzata nella laringe sopraglottica. Il tumore può essere ben differenziato, moderatamente o scarsamente differenziato; quest'ultimo gruppo è suddiviso nei carcinomi neuroendocrini a piccole cellule e a grandi cellule. La malattia è fortemente correlata al consumo di tabacco. I pazienti presentano raucedine, disfagia, mal di gola, ostruzione delle vie aeree, emottisi e, raramente, una sindrome paraneoplastica secondaria ad una produzione ormonale aberrante. I tumori scarsamente differenziati sono molto aggressivi, con alti tassi di infiltrazione locale e metastasi."},"nl":{"name":"Neuro-endocriene tumor van larynx","synonyms":["Laryngeale neuro-endocriene tumor","Neuro-endocriene tumor van strottenhoofd"],"definition":"Een zeldzame tumor van hoofd en hals, gekarakteriseerd door een epitheliaal neoplasma met bewijs van neuro-endocriene differentiatie, meestal gesitueerd in de supraglottische larynx. De tumor kan goed, matig of slecht gedifferentieerd zijn, en deze laatste groep wordt verder onderverdeeld in kleincellige en grootcellige neuro-endocriene carcinomen. Er is een sterke associatie met tabaksgebruik. Patiënten presenteren zich met heesheid, dysfagie, pijnlijke keel, obstructie van luchtwegen, hemoptoë, en in zeldzame gevallen een paraneoplastisch syndroom als gevolg van aberrante productie van hormoon. Slecht gedifferentieerde tumoren zijn zeer agressief met hoge percentages van regionale metastase en metastase op afstand."},"pt":{"name":"Tumor endócrino da laringe"},"pl":{"name":"Guz neuroendokrynny krtani"},"cs":{"name":"Laryngeální endokrinní nádor"},"uk":{"name":"Нейроендокринна пухлина гортані","definition":"A rare head and neck tumor characterized by an epithelial neoplasm with evidence of neuroendocrine differentiation, typically located in the supraglottic larynx. The tumor can be well, moderately, or poorly differentiated, the latter group being subdivided into small cell or large cell neuroendocrine carcinomas. There is a strong association with tobacco use. Patients present with hoarseness, dysphagia, sore throat, airway obstruction, hemoptysis, and rarely a paraneoplastic syndrome due to aberrant hormone production. Poorly differentiated tumors are highly aggressive with high rates of regional and distant metastasis."},"zh":{"name":"喉神经内分泌肿瘤"},"tr":{"name":"Laringeal nöroendokrin tümör"}},"xrefs":[{"source":"ICD-10","code":"C32.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2F00.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1502591214"},{"source":"MONDO","code":"0015070","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681809","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":98061,"name":"Rare otorhinolaryngologic tumor","classifications":[200,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-13","source":"24596175[PMID]_19536850[PMID]_2692106[PMID]_1659825[PMID]_1845268[PMID]_18417860[PMID]_23521413[PMID]_23397787[PMID]","terms":[{"hpo":"HP:0100605","label":"Neoplasm of the larynx","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0100634","label":"Neuroendocrine neoplasm","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012432","label":"Chronic fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002730","label":"Chronic noninfectious lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003528","label":"Elevated calcitonin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003144","label":"Increased serum serotonin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200136","label":"Oral-pharyngeal dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011749","label":"Adrenocorticotropic hormone excess","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031029","label":"Elevated carcinoembryonic antigen level","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031218","label":"Inappropriate antidiuretic hormone secretion","frequency":"Very rare (<4-1%)","criteria":null}]}}