{"orpha":443167,"name":"NUT midline carcinoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["NMC"],"definition":"A rare tumor characterized by a rapidly growing mass usually arising along the midline, defined by the presence of <i>NUTM1</i> rearrangements. Histopathological examination shows a poorly differentiated carcinoma, often with evidence of squamous differentiation. Patients present with unspecific signs and symptoms due to mass effect, depending on the location. Extensive local invasion of adjacent structures, lymph node involvement, and distant metastatic disease are often present at the time of diagnosis. Prognosis is generally poor.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-443167/","orphanet_url":"https://www.orpha.net/en/disease/detail/443167","names":{"fr":{"name":"Carcinome de la ligne médiane","synonyms":["NMC"],"definition":"Tumeur rare caractérisée par une masse à croissance rapide se développant généralement le long de la ligne médiane, définie par la présence de réarrangements de <i>NUTM1</i>. L'examen histopathologique révèle un carcinome peu différencié, souvent en présence de signes de différenciation squameuse. Les patients présentent des signes et des symptômes non spécifiques en fonction de la localisation de la masse tumorale. Une invasion locale, étendue des tissus adjacents, une atteinte des ganglions lymphatiques et une forme métastatique avec développement de métastases à distance sont souvent présentes au moment du diagnostic. Le pronostic est généralement réservé."},"de":{"name":"NUT-Karzinom","synonyms":["NMC"],"definition":"Ein seltener Tumor, der durch eine schnell wachsende Gewebeverdichtung gekennzeichnet ist, die gewöhnlich entlang der Mittellinie auftritt und durch das Vorhandensein von <i>NUTM1</i>-Rearrangements definiert ist. Die histopathologische Untersuchung zeigt ein schlecht differenziertes Karzinom, oft mit Anzeichen einer Plattenepithel-Differenzierung. Die Patienten weisen je nach Lokalisation unspezifische Zeichen und Symptome auf, die auf eine Gewebeverdichtung zurückzuführen sind. Eine ausgedehnte lokale Invasion benachbarter Strukturen, Lymphknotenbefall und Fernmetastasen sind zum Zeitpunkt der Diagnose häufig vorhanden. Die Prognose ist im Allgemeinen schlecht."},"es":{"name":"Carcinoma de la línea media NUT","synonyms":["NMC"],"definition":"Es un tumor poco frecuente caracterizado por una masa de crecimiento rápido que, por lo general, se origina a lo largo de la línea media, y se define por la presencia de reordenamientos en el gen <i>NUTM1</i>. El examen histopatológico muestra un carcinoma poco diferenciado, a menudo con evidencia de diferenciación escamosa. Los pacientes presentan signos y síntomas inespecíficos debidos al efecto masa, dependiendo de la localización. La invasión local extensa de estructuras adyacentes, la afectación de los ganglios linfáticos y la metástasis a distancia suelen estar presentes en el momento del diagnóstico. Por lo general, el pronóstico es desfavorable."},"it":{"name":"Carcinoma della linea mediana NUT","synonyms":["NMC"],"definition":"Si tratta di una neoplasia rara caratterizzata da una massa a crescita rapida che in genere si sviluppa lungo la linea mediana, in presenza di riarrangiamenti di <i>NUTM1</i>. L'esame istopatologico evidenzia un carcinoma scarsamente differenziato, spesso con differenziazione squamosa. I pazienti presentano sintomi aspecifici secondari alla presenza di una massa, che dipendono dalla sua localizzazione. Al momento della diagnosi spesso si osserva un'estesa invasione locale delle strutture adiacenti, il coinvolgimento dei linfonodi e metastasi. Di solito la prognosi è sfavorevole."},"nl":{"name":"NUT-middellijncarcinoom","synonyms":["NMC"],"definition":"Een zeldzame tumor, gekarakteriseerd door een snelgroeiende massa die meestal ontstaat langs de middellijn, gedefinieerd door de aanwezigheid van herschikkingen van <i>NUTM1</i>. Histopathologisch onderzoek toont een slecht gedifferentieerd carcinoom, vaak met bewijs van squameuze differentiatie. Patiënten presenteren zich met aspecifieke verschijnselen en symptomen te wijten aan een massa-effect, afhankelijk van de locatie. Uitgebreide locale invasie van aangrenzende structuren, betrokkenheid van lymfeklieren, en metastase op afstand zijn vaak aanwezig op het moment van de diagnose. De prognose is doorgaans slecht."},"pt":{"name":"Carcinoma da linha média NUT"},"pl":{"name":"Nowotwór linii pośrodkowej NUT","synonyms":["NMC"]},"cs":{"name":"NUT karcinom střední čáry","synonyms":["NMC"]},"uk":{"name":"Карцинома серединної лінії NUT","synonyms":["NMC"],"definition":"A rare tumor characterized by a rapidly growing mass usually arising along the midline, defined by the presence of <i>NUTM1</i> rearrangements. Histopathological examination shows a poorly differentiated carcinoma, often with evidence of squamous differentiation. Patients present with unspecific signs and symptoms due to mass effect, depending on the location. Extensive local invasion of adjacent structures, lymph node involvement, and distant metastatic disease are often present at the time of diagnosis. Prognosis is generally poor."},"zh":{"name":"NUT中线癌","synonyms":["NMC"]},"tr":{"name":"NUT orta hat karsinomu","synonyms":["NMC"]}},"xrefs":[{"source":"ICD-10","code":"C80.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2D3Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"XH2855","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1892513495"},{"source":"MONDO","code":"0005563","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1707291","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10078295","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":98057,"name":"Rare tumor","classifications":[202]}],"children":[],"genes":[{"symbol":"BRD4","name":"bromodomain containing 4","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"22017582[PMID]","hgnc":"13575","ensembl":"ENSG00000141867","omim":"608749","loci":["19p13.12"]},{"symbol":"NUTM1","name":"NUT midline carcinoma family member 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"22017582[PMID]","hgnc":"29919","ensembl":"ENSG00000184507","omim":"608963","loci":["15q14"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":310.0,"area":"Worldwide","status":"Validated","source":"35957893[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.0002,"area":"Worldwide","status":"Validated","source":"35957893[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-02-13","source":"22896655[PMID]_22017582[PMID]_23463074[PMID]_12543779[PMID]","terms":[{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045026","label":"Abnormal mediastinum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012254","label":"Ewing sarcoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001909","label":"Leukemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003006","label":"Neuroblastoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012182","label":"Oropharyngeal squamous cell carcinoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100757","label":"Pancreatoblastoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002860","label":"Squamous cell carcinoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012142","label":"Pancreatic squamous cell carcinoma","frequency":"Occasional (29-5%)","criteria":null}]}}