{"orpha":500478,"name":"Squamous cell carcinoma of the oropharynx","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare head and neck tumor characterized by a malignant epithelial neoplasm with evidence of squamous differentiation, which may arise in association with high-risk HPV in a subset of cases. HPV-positive tumors have a strong predilection for the base of tongue and the palatine tonsils and typically present at an advanced clinical stage with cervical lymphadenopathy. They are associated with significantly better prognosis than HPV-negative tumors, which more commonly involve the soft palate, manifest as sore throat and difficulty in swallowing or a neck mass, and occur in older patients. Smoking and alcohol consumption are important risk factors.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-500478/","orphanet_url":"https://www.orpha.net/en/disease/detail/500478","names":{"fr":{"name":"Carcinome épidermoïde de l'oropharynx","synonyms":["Carcinome épidermoïde oropharyngé"],"definition":"Tumeur rare de la tête et du cou caractérisée par un néoplasme épithélial malin avec des signes de différenciation squameuse, qui peut survenir en association avec une infection à papillomavirus humain (HPV) à haut risque cancérigène chez un sous-groupe de patients. Les tumeurs HPV-positives ont une forte prédilection pour la base de la langue et les tonsilles palatines, et se manifestent généralement à un stade clinique avancé par une lymphadénopathie cervicale. Leur pronostic est significativement meilleur que celui des tumeurs HPV-négatives, qui touchent plus couramment le voile du palais chez des patients plus âgés et qui se manifestent par des maux de gorge et des troubles de la déglutition ou par une masse au niveau du cou. Le tabagisme et la consommation d'alcool sont d'importants facteurs de risque."},"de":{"name":"Plattenepithelkarzinom des Oropharynx","definition":"Ein seltener Kopf-Hals-Tumor, der als maligne epitheliale Neoplasie mit Anzeichen für eine Plattenepithel-Differenzierung manifestiert und in einer Untergruppe von Fällen in Verbindung mit Hochrisiko-HPV auftreten kann. HPV-positive Tumoren treten bevorzugt am Zungengrund und an den Gaumenmandeln auf und zeigen sich typischerweise in einem fortgeschrittenen klinischen Stadium mit zervikaler Lymphadenopathie. Sie haben eine deutlich bessere Prognose als HPV-negative Tumoren, die häufiger den weichen Gaumen befallen, sich durch Halsschmerzen und Schluckbeschwerden oder eine Gewebeverdichtung am Hals äußern und bei älteren Patienten auftreten. Rauchen und Alkoholkonsum sind wichtige Risikofaktoren."},"es":{"name":"Carcinoma de células escamosas de la orofaringe","definition":"Es un tumor poco frecuente de cabeza y cuello caracterizado por una neoplasia epitelial maligna con una evidente diferenciación escamosa, que puede surgir asociado al VPH de alto riesgo en un subgrupo de pacientes. Los tumores VPH positivos presentan una elevada predilección por la base de la lengua y las amígdalas palatinas y, por lo general, se presentan en un estadio clínico avanzado con linfadenopatía cervical. Asocian un pronóstico significativamente más favorable que los tumores negativos para el VPH, que afectan con mayor frecuencia al paladar blando, se manifiestan como dolor de garganta y disfagia o una masa en el cuello, y ocurren en pacientes de edad más avanzada. El tabaquismo y el consumo de alcohol constituyen importantes factores de riesgo."},"it":{"name":"Carcinoma a cellule squamose dell'orofaringe","definition":"Si tratta di un tumore raro della testa e del collo, caratterizzato da una neoplasia epiteliale maligna con differenziazione squamosa, che, in alcuni pazienti, può associarsi all'HPV ad alto rischio. I tumori positivi per l'HPV hanno una forte predilezione per la base della lingua e le tonsille palatine, e di solito si manifestano in uno stadio già avanzato con linfoadenopatia cervicale. La prognosi è significativamente migliore rispetto ai tumori negativi per l'HPV, che in genere coinvolgono il palato molle, si manifestano con mal di gola e difficoltà di deglutizione, o sotto forma di massa al collo, e colpiscono i pazienti più anziani. Il fumo e il consumo di alcol rappresentano fattori di rischio importanti."},"nl":{"name":"Plaveiselcelcarcinoom van orofarynx","definition":"Een zeldzame tumor van hoofd en hals, gekarakteriseerd door een maligne epitheliaal neoplasma met bewijs van squameuze differentiatie, dat in een deel van de gevallen kan ontstaan in associatie met hoog-risico-HPV. HPV-positieve tumoren komen vaker voor in de tongbasis en keelamandelen, en presenteren zich doorgaans in een gevorderd klinisch stadium met cervicale lymfadenopathie. Ze zijn geassocieerd met een significant betere prognose dan HPV-negatieve tumoren, die vaker voorkomen in het zachte gehemelte, zich manifesteren als pijnlijke keel en moeite met slikken of een massa van hals, en optreden bij oudere patiënten. Roken en alcoholconsumptie zijn belangrijke risicofactoren."},"pt":{"name":"Carcinoma de células escamosas da orofaringe"},"pl":{"name":"Rak płaskonabłonkowy gardła środkowego"},"cs":{"name":"Dlaždicobuněčný karcinom oropharyngu"},"uk":{"name":"Плоскоклітинний рак ротоглотки","definition":"A rare head and neck tumor characterized by a malignant epithelial neoplasm with evidence of squamous differentiation, which may arise in association with high-risk HPV in a subset of cases. HPV-positive tumors have a strong predilection for the base of tongue and the palatine tonsils and typically present at an advanced clinical stage with cervical lymphadenopathy. They are associated with significantly better prognosis than HPV-negative tumors, which more commonly involve the soft palate, manifest as sore throat and difficulty in swallowing or a neck mass, and occur in older patients. Smoking and alcohol consumption are important risk factors."},"zh":{"name":"口咽鳞状细胞癌"},"tr":{"name":"Orofarinksin skuamöz hücreli karsinomu"}},"xrefs":[{"source":"OMIM","code":"275355","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C10.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B6A.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"839740136"},{"source":"MONDO","code":"0044704","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0280313","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10031112","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":["Adolescent","Adult","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":3.12,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]_28687376[PMID]"}],"phenotypes":null}