{"orpha":502363,"name":"Squamous cell carcinoma of the oral cavity","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare head and neck tumor characterized by a firm infiltrative neoplasm with squamous differentiation, arising from the mucosal epithelium, and most commonly located in the tongue, floor of the mouth, or gingiva, but also the buccal mucosa or any other area of the oral cavity, depending on prevailing risk factors (such as smoking, alcohol consumption, and tobacco chewing). Patients present with a variably white, erythematous, mixed, nodular, or ulcerated lesion, which may cause discomfort, pain, or reduced mobility of the tongue. The tumor is aggressive with a propensity for local invasion and early lymph node metastasis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-502363/","orphanet_url":"https://www.orpha.net/en/disease/detail/502363","names":{"fr":{"name":"Carcinome épidermoïde de la cavité orale","definition":"Tumeur rare de la tête et du cou caractérisée par un néoplasme infiltrant de consistance ferme à différenciation pavimenteuse, prenant naissance dans de l'épithélium de la muqueuse et localisé le plus souvent sur la langue, le plancher buccal ou la gencive, mais aussi sur la muqueuse buccale ou toute autre zone de la cavité buccale, en fonction des facteurs de risque dominants (tels que le tabagisme, la consommation d'alcool et la mastication du tabac). Les patients présentent des lésions variables, de couleur blanche, érythémateuses, mixtes, nodulaires ou ulcérées, pouvant causer une gêne, une douleur ou entraver la mobilité de la langue. La tumeur est agressive avec une tendance à l'invasion locale et aux métastases ganglionnaires précoces."},"de":{"name":"Plattenepithelkarzinom der Mundhöhle","definition":"Ein seltener Kopf- und Halstumor, der durch eine fest infiltrierende Neoplasie mit Plattenepithel-Differenzierung gekennzeichnet ist, die vom Schleimhautepithel ausgeht und sich am häufigsten in der Zunge, dem Mundboden oder der Gingiva, aber auch in der Wangenschleimhaut oder einem anderen Bereich der Mundhöhle befindet, abhängig von den vorherrschenden Risikofaktoren (wie Rauchen, Alkoholkonsum und Tabakkauen). Die Patienten präsentieren sich mit einer unterschiedlich weißen, erythematösen, gemischten, knotigen oder ulzerierten Läsion, die Unbehagen, Schmerzen oder eine eingeschränkte Beweglichkeit der Zunge verursachen kann. Der Tumor ist aggressiv und neigt zur lokalen Invasion und frühen Lymphknotenmetastasierung."},"es":{"name":"Carcinoma de células escamosas de la cavidad oral","synonyms":["Carcinoma de células escamosas de la cavidad bucal"],"definition":"Es un tumor poco frecuente de cabeza y cuello caracterizado por una neoplasia infiltrativa firme con diferenciación escamosa, que surge del epitelio de la mucosa y se localiza con mayor frecuencia en la lengua, el suelo de la boca o la encía, aunque también en la mucosa bucal o en cualquier otra área de la cavidad oral, dependiendo de los factores de riesgo predominantes (tales como fumar, consumir alcohol y mascar tabaco). Los pacientes se presentan con una lesión variablemente blanca, eritematosa, mixta, nodular o ulcerada, que puede causar molestias, dolor o movilidad reducida de la lengua. El tumor es agresivo con propensión a la invasión local y metástasis temprana en los ganglios linfáticos."},"it":{"name":"Carcinoma a cellule squamose del cavo orale","definition":"Si tratta di un tumore raro della testa e del collo, caratterizzato da una neoplasia infiltrante solida con differenziazione squamosa, che origina dall'epitelio della mucosa e di solito si localizza sulla lingua, sul pavimento orale o sulle gengive, ma anche sulla mucosa orale e in tutte le altre aree del cavo orale, a seconda dei fattori di rischio (ad esempio, fumo, consumo di alcol e masticazione di tabacco). I pazienti presentano una lesione variabile di colore bianco, eritematosa, mista, nodulare o ulcerata, che può causare disagio e dolore o limitare i movimenti della lingua. Il tumore è aggressivo, con tendenza all'invasione locale e alle metastasi precoci ai linfonodi."},"nl":{"name":"Plaveiselcelcarcinoom van mondholte","definition":"Een zeldzame tumor van hoofd en hals, gekarakteriseerd door een stevig, infiltratief neoplasma met squameuze differentiatie, dat ontstaat uit slijmvliesepitheel, en zich doorgaans situeert in tong, mondbodem, of tandvlees, maar ook mondslijmvlies of een ander deel van de mondholte, afhankelijk van overheersende risicofactoren (zoals roken, alcoholconsumptie, en tabak kauwen). Patiënten presenteren zich met een variabel witte, erythemateuze, gemengde, nodulaire, of ulcererende laesie, die ongemak, pijn, of verminderde mobiliteit van tong kan veroorzaken. De tumor is agressief, met neiging tot lokale invasie en vroege metastase naar lymfeklieren."},"pt":{"name":"Carcinoma de células escamosas da cavidade oral"},"pl":{"name":"Rak płaskonabłonkowy jamy ustnej"},"cs":{"name":"Dlaždicobuněčný karcinom dutiny ústní"},"uk":{"name":"Плоскоклітинний рак ротової порожнини","definition":"A rare head and neck tumor characterized by a firm infiltrative neoplasm with squamous differentiation, arising from the mucosal epithelium, and most commonly located in the tongue, floor of the mouth, or gingiva, but also the buccal mucosa or any other area of the oral cavity, depending on prevailing risk factors (such as smoking, alcohol consumption, and tobacco chewing). Patients present with a variably white, erythematous, mixed, nodular, or ulcerated lesion, which may cause discomfort, pain, or reduced mobility of the tongue. The tumor is aggressive with a propensity for local invasion and early lymph node metastasis."},"zh":{"name":"口腔鳞状细胞癌"},"tr":{"name":"Ağız boşluğunun skuamöz hücreli karsinomu"}},"xrefs":[{"source":"OMIM","code":"275355","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C06.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B6E.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0004958","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0585362","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10041857","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":457252,"name":"Squamous cell carcinoma of the oral tongue","status":"inactive"}],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":502369,"name":"Squamous cell carcinoma of oral cavity and lip","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","Childhood","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":3.51,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]_28687376[PMID]"}],"phenotypes":null}