{"orpha":500464,"name":"Squamous cell carcinoma of the nasal cavity and paranasal sinuses","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Squamous cell carcinoma of the nasal cavity and sinuses"],"definition":"A rare head and neck tumor characterized by a malignant epithelial neoplasm most commonly arising in the maxillary sinus or nasal cavity, occurring as a keratinizing, a non-keratinizing, or a spindle cell (sarcomatoid) type. Patients may present with nasal obstruction, epistaxis, rhinorrhea, swelling, or (at more advances stages) with facial pain and/or paralysis, diplopia, and proptosis. Patients with paranasal sinus tumors present later and at a higher stage than patients with nasal cavity carcinomas. Risk factors are smoking and industrial exposures. High-risk HPV is most frequently associated with the non-keratinizing type.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-500464/","orphanet_url":"https://www.orpha.net/en/disease/detail/500464","names":{"fr":{"name":"Carcinome épidermoïde des fosses nasales et des sinus paranasaux","synonyms":["Carcinome épidermoïde des fosses nasales et des sinus"],"definition":"Tumeur rare de la tête et du cou caractérisée par un néoplasme épithélial malin prenant généralement naissance dans le sinus maxillaire ou les fosses nasales, apparaissant sous la forme d'un carcinome kératinisant, non kératinisant ou à cellules fusiformes (carcinome sarcomatoïde). Les patients peuvent présenter une congestion nasale, une épistaxis, un oedème ou, à des stades plus avancés, des douleurs au visage et/ou une paralysie, une diplopie et une exophtalmie. Les tumeurs des sinus paranasaux se manifestent plus tardivement et à un stade plus avancé que les carcinomes des fosses nasales. Les facteurs de risque sont le tabagisme et les expositions professionnelles aux produits chimiques. Le plus souvent, les infections à papillomavirus humains (HPV) à haut risque cancérigène sont associées à la forme non kératinisante."},"de":{"name":"Plattenepithelkarzinom der Nasenhöhle und Nasennebenhöhlen","synonyms":["Plattenepithelkarzinom der Nasenhöhle und Nebenhöhlen"],"definition":"Ein seltener Kopf- und Halstumor, bei dem es sich um eine maligne epitheliale Neoplasie handelt, die am häufigsten in der Kieferhöhle oder der Nasenhöhle auftritt und als keratinisierende, nicht-keratinisierende oder spindelzellige (sarkomatoide) Form vorkommt. Die Patienten können sich mit Nasenobstruktion, Epistaxis, Rhinorrhoe, Schwellungen oder (in fortgeschritteneren Stadien) mit Gesichtsschmerzen und/oder Lähmungen, Diplopie und Proptosis vorstellen. Patienten mit Nasennebenhöhlentumoren präsentieren sich später und in einem fortgeschrittenen Stadium als Patienten mit Karzinomen in der Nasenhöhle. Risikofaktoren sind Rauchen und industrielle Exposition. Das Hochrisiko-HPV ist am häufigsten mit dem nicht-keratinisierenden Typ verbunden."},"es":{"name":"Carcinoma de células escamosas de la cavidad nasal y senos paranasales","synonyms":["Carcinoma de células escamosas de la cavidad y los senos nasales"],"definition":"Es un tumor poco frecuente de cabeza y cuello caracterizado por una neoplasia epitelial maligna que surge con mayor frecuencia en el seno maxilar o en la cavidad nasal, que se manifiesta como células de tipo queratinizante, no queratinizante o fusiformes (sarcomatoide). Los pacientes pueden presentarse con obstrucción nasal, epistaxis, rinorrea, inflamación o (en estadios más avanzados) dolor y/o parálisis facial, diplopía y proptosis. Los pacientes con tumores del seno paranasal debutan a edades más tardías y en un estadio más avanzado que los pacientes con carcinomas de la cavidad nasal. Los factores de riesgo son el tabaquismo y la exposición industrial a determinadas sustancias. El VPH de alto riesgo se asocia con mayor frecuencia con el tipo no queratinizante."},"it":{"name":"Carcinoma a cellule squamose della cavità nasale e dei seni paranasali","definition":"Si tratta di un tumore raro della testa e del collo, caratterizzato da una neoplasia epiteliale maligna che di solito si localizza nel seno mascellare o nella cavità nasale, e che può essere di tipo cheratinizzante, non cheratinizzante o a cellule fusiformi (sarcomatoide). I pazienti presentano ostruzione nasale, epistassi, rinorrea, gonfiore o (negli stadi più avanzati) dolore e/o paralisi facciale, diplopia e proptosi. I tumori del seno paranasale si manifestano più tardi e in uno stadio più avanzato rispetto ai carcinomi della cavità nasale. I fattori di rischio sono il fumo e l'esposizione professionale. L'HPV ad alto rischio in genere si associa al tipo non cheratinizzante."},"nl":{"name":"Plaveiselcelcarcinoom van neusholte en neusbijholten","synonyms":["Plaveiselcelcarcinoom van neusholte en sinussen"],"definition":"Een zeldzame tumor van hoofd en hals, gekarakteriseerd door een maligne epitheliaal neoplasma dat doorgaans ontstaat in de sinus maxillaris (bovenkaaksholte) of neusholte, en dat voorkomt als een keratiniserend, een niet-keratiniserend, of een spoelcel (sarcomatoïde) type. patiënten kunnen zich presenteren met nasale obstructie, epistaxis, rinorroe, zwelling, of (in verder gevorderde stadia) met aangezichtspijn en/of verlamming, diplopie en proptosis. Patiënten met een tumor van neusbijholte presenteren zich later en in een hoger stadium dan patiënten met een carcinoom van neusholte. Risicofactor azijn roken en industriële blootstellingen. Hoog-risico HPV is het vaakst geassocieerd met het niet-keratiniserend type."},"pt":{"name":"Carcinoma de células escamosas da cavidade nasal e seios paranasais"},"pl":{"name":"Rak płaskonabłonkowy jamy nosowej i zatok przynosowych","synonyms":["Squamous cell carcinoma of the nasal cavity and sinuses"]},"cs":{"name":"Dlaždicobuněčný karcinom nosní dutiny a paranazálních dutin","synonyms":["Squamous cell carcinoma of the nasal cavity and sinuses","Dlaždicobuněčný karcinom nosní dutiny a vedlejších nosních dutin"]},"uk":{"name":"Плоскоклітинний рак порожнини носа та приносових пазух","synonyms":["Плоскоклітинний рак порожнини носа та придаткових пазух"],"definition":"A rare head and neck tumor characterized by a malignant epithelial neoplasm most commonly arising in the maxillary sinus or nasal cavity, occurring as a keratinizing, a non-keratinizing, or a spindle cell (sarcomatoid) type. Patients may present with nasal obstruction, epistaxis, rhinorrhea, swelling, or (at more advances stages) with facial pain and/or paralysis, diplopia, and proptosis. Patients with paranasal sinus tumors present later and at a higher stage than patients with nasal cavity carcinomas. Risk factors are smoking and industrial exposures. High-risk HPV is most frequently associated with the non-keratinizing type."},"zh":{"name":"鼻腔和鼻旁窦鳞状细胞癌","synonyms":["Squamous cell carcinoma of the nasal cavity and sinuses"]},"tr":{"name":"Burun boşluğu ve paranazal sinüslerin skuamöz hücreli karsinomu","synonyms":["Burun boşluğu ve sinüslerin skuamöz hücreli karsinomu"]}},"xrefs":[{"source":"OMIM","code":"275355","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D02.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2C20.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"UMLS","code":"C0280332","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":67037,"name":"Squamous cell carcinoma of head and neck","classifications":[200,202]}],"children":[],"genes":[{"symbol":"ING1","name":"inhibitor of growth family member 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"10866301[PMID]","hgnc":"6062","ensembl":"ENSG00000153487","omim":"601566","loci":["13q34"]},{"symbol":"PTEN","name":"phosphatase and tensin homolog","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"11801303[PMID]","hgnc":"9588","ensembl":"ENSG00000171862","omim":"601728","loci":["10q23.31"]},{"symbol":"TNFRSF10B","name":"TNF receptor superfamily member 10b","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"9721831[PMID]","hgnc":"11905","ensembl":"ENSG00000120889","omim":"603612","loci":["8p21.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.35,"area":"Worldwide","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]_28687376[PMID]"}],"phenotypes":null}