{"orpha":97289,"name":"Thymic neuroendocrine tumor","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid syndrome, respectively.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97289/","orphanet_url":"https://www.orpha.net/en/disease/detail/97289","names":{"fr":{"name":"Tumeur neuroendocrine thymique","synonyms":["Tumeur neuroendocrine du thymus"],"definition":"Néoplasme thymique primaire rare et malin. Il provient des cellules neuroendocrines et se manifeste par une masse au sein du médiastin antérieur. Les patients présentent habituellement des signes non spécifiques, tels qu'une douleur thoracique, une toux, une dyspnée, et dans certains cas, un syndrome de veine cave supérieure, bien qu'ils puissent être asymptomatiques pendant les premiers stades de la maladie, ou manifester une néoplasie endocrine multiple de type I. La production ectopique d'ACTH et de sérotonine peut conduire à un syndrome de Cushing et à un syndrome carcinoïde, respectivement."},"de":{"name":"Neuroendokriner Tumor des Thymus","synonyms":["NET des Thymus","Thymustumor, neuroendokriner"],"definition":"Eine maligne primäre Neoplasie des Thymus, die von neuroendokrinen Zellen ausgeht und sich als Gewebeverdichtung im vorderen Mediastinum darstellt. Die Patienten weisen in der Regel unspezifische Symptome wie Brustschmerzen, Husten, Kurzatmigkeit oder in einigen Fällen ein Vena-Cava-Syndrom auf, obwohl sie in den frühen Stadien auch asymptomatisch sein oder eine multiple endokrine Neoplasie Typ I aufweisen können. Die ektopische Produktion von ACTH und Serotonin kann zum Cushing-Syndrom bzw. zum Karzinoid-Syndrom führen."},"es":{"name":"Tumor neuroendocrino tímico","definition":"Es una neoplasia tímica primaria, poco frecuente y maligna, originada desde las células neuroendocrinas, presentándose como una masa dentro del mediastino anterior. Los pacientes se presentan tipicamente con síntomas inespecíficos como dolor torácico, tos, dificultad para respirar o, en algunos casos, síndrome de la vena cava superior, aunque algunos pueden ser asintomáticos durante las primeras etapas o debutar con una neoplasia endocrina múltiple tipo 1. La identificación de producción ectópica de ACTH y serotonina puede derivar en un diagnóstico de síndrome de Cushing y síndrome carcinoide, respectivamente."},"it":{"name":"Tumore endocrino del timo","synonyms":["Tumore carcinoide del timo","Tumore neuroendocrino del timo"],"definition":"Il tumore endocrino del timo è una neoplasia primitiva rara e maligna del timo, che origina dalle cellule neuroendocrine e si manifesta con una massa nella porzione anteriore del mediastino. Di solito i pazienti presentano sintomi aspecifici, come il dolore toracico, la tosse, l'affanno e, in alcuni casi, la sindrome della vena cava superiore. Inizialmente i pazienti possono essere asintomatici oppure possono sviluppare una neoplasia endocrina multipla tipo I. La produzione ectopica di ACTH e serotonina può causare, rispettivamente, la sindrome di Cushing e la sindrome del carcionide."},"nl":{"name":"Neuro-endocriene tumor van thymus","synonyms":["Neuro-endocriene thymustumor"],"definition":"Een zeldzaam maligne primair neoplasma van thymus, afkomstig van neuro-endocriene cellen, en zich presenterend als een massa in anterieur mediastinum. Patiënten presenteren zich doorgaans met aspecifieke symptomen zoals pijn op borst, hoest, kortademigheid, of in sommige gevallen, vena cava superior-syndroom, maar tijdens de vroege stadia van de ziekte kunnen patiënten asymptomatisch of zich presenteren met multipele endocriene neoplasie type I. Ectopische productie van ACTH en serotonine kan respectievelijk leiden tot syndroom van Cushing en carcinoïdsyndroom."},"pt":{"name":"Tumor endócrino do timo"},"pl":{"name":"Guz neuroendokrynny grasicy","definition":"Rzadki, złośliwy, pierwotny nowotwór grasicy wywodzący się z komórek neuroendokrynnych, manifestujący się jako guz w śródpiersiu przednim. Pacjenci zwykle zgłaszają się z niespecyficznymi objawami, takimi jak ból w klatce piersiowej, kaszel, duszność lub w niektórych przypadkach zespół żyły głównej górnej, chociaż mogą też wykazywać żadnych objawów we wczesnych stadiach choroby lub guz grasicy może występować z gruczolakowatością wewnątrzwydzielniczą typu I. Ektopowe wytwarzanie ACTH i serotoniny może prowadzić, odpowiednio, do zespołu Cushinga i zespołu rakowiaka."},"cs":{"name":"Endokrinní nádor brzlíku","synonyms":["Karcinoid brzlíku","Neuroendokrinní nádor brzlíku"]},"uk":{"name":"Нейроендокринна пухлина вилочкової залози","definition":"A rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid syndrome, respectively."},"zh":{"name":"胸腺神经内分泌癌","definition":"胸腺内分泌肿瘤是一种罕见的恶性原发性胸腺肿瘤，起源于神经内分泌细胞，表现为前纵隔区肿块。患者通常表现为非特异性症状，如胸痛、咳嗽、气短，或在某些情况下出现上腔静脉综合征，尽管患者在早期可能无症状或出现多发性内分泌肿瘤I型。异位分泌促肾上腺皮质激素和5-羟色胺可分别导致库欣综合征和类癌综合征。"},"tr":{"name":"Timik nöroendokrin tümör"}},"xrefs":[{"source":"ICD-10","code":"C37","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2C27.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"506615135"},{"source":"MONDO","code":"0019964","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1336746","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":100100,"name":"Thymic tumor","classifications":[202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult","Elderly"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-06","source":"22525409[PMID]_6271390[PMID]_10086551[PMID]_26317915[PMID]_27785065[PMID]_28451004[PMID]","terms":[{"hpo":"HP:0100521","label":"Neoplasm of the thymus","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0100634","label":"Neuroendocrine neoplasm","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0045026","label":"Abnormal mediastinum morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100721","label":"Mediastinal lymphadenopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030829","label":"Abnormal breath sound","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005345","label":"Abnormal vena cava morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100570","label":"Carcinoid tumor","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:0012735","label":"Cough","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003154","label":"Increased circulating ACTH level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003118","label":"Increased circulating cortisol level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100568","label":"Neoplasm of the endocrine system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007457","label":"Prominent veins on trunk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004724","label":"Calcium nephrolithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003072","label":"Hypercalcemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000870","label":"Increased circulating prolactin concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008261","label":"Pancreatic islet cell adenoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002893","label":"Pituitary adenoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011761","label":"Pituitary null cell adenoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006767","label":"Pituitary prolactin cell adenoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008200","label":"Primary hyperparathyroidism","frequency":"Occasional (29-5%)","criteria":null}]}}