{"orpha":494550,"name":"Squamous cell carcinoma of the larynx","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, most commonly located in the supraglottis or glottis. The tumor can spread directly to adjacent structures or metastasize via lymphatic and blood vessels to regional lymph nodes, or lung, liver, and bones, respectively. Primary risk factors are tobacco smoking and (to a lesser extent) alcohol consumption. Patients may present with hoarseness, dyspnea, stridor, dysphagia, hemoptysis, or odynophagia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-494550/","orphanet_url":"https://www.orpha.net/en/disease/detail/494550","names":{"fr":{"name":"Carcinome épidermoïde du larynx","synonyms":["Carcinome épidermoïde laryngé"],"definition":"Tumeur rare de la tête et du cou caractérisée par un néoplasme épithélial malin avec des signes de différenciation malpighienne, le plus souvent localisé dans la supraglotte ou la glotte. La tumeur peut se propager directement aux structures adjacentes ou métastaser via les vaisseaux lymphatiques et sanguins vers les ganglions lymphatiques adjacents, ou respectivement vers les poumons, le foie et les os. Les principaux facteurs de risque sont le tabagisme et (dans une moindre mesure) la consommation d'alcool. Les patients peuvent manifester un enrouement, une dyspnée, un stridor, une dysphagie, une hémoptysie ou une odynophagie."},"de":{"name":"Plattenepithelkarzinom des Larynx","synonyms":["Larynxkarzinom, squamöses"],"definition":"Ein seltener Kopf-Hals-Tumor, gekennzeichnet durch ein maligne epitheliale Neoplasie mit Anzeichen einer Plattenepitheldifferenzierung, die zumeist in Supraglottis oder Glottis lokalisiert ist. Der Tumor kann sich direkt auf benachbarte Strukturen ausbreiten oder über Lymph- und Blutgefäße in regionale Lymphknoten bzw. Lunge, Leber und Knochen metastasieren. Hauptrisikofaktoren sind Tabakrauchen und (in geringerem Maße) Alkoholkonsum. Die Patienten können sich mit Heiserkeit, Dyspnoe, Stridor, Dysphagie, Hämoptyse oder Odynophagie vorstellen."},"es":{"name":"Carcinoma de células escamosas de la laringe","definition":"Es un tumor poco frecuente de cabeza y cuello caracterizado por una neoplasia epitelial maligna con signos de diferenciación escamosa, localizada con mayor frecuencia en la supraglotis o la glotis. El tumor puede diseminarse directamente a estructuras adyacentes o metastatizar través de los vasos linfáticos y sanguíneos a los ganglios linfáticos regionales o al pulmón, al hígado y a los huesos, respectivamente. Los factores de riesgo principales son el tabaquismo y (en menor medida) el consumo de alcohol. Los pacientes pueden presentarse con ronquera, disnea, estridor, disfagia, hemoptisis u odinofagia."},"it":{"name":"Carcinoma a cellule squamose della laringe","definition":"Si tratta di un tumore raro della testa e del collo, caratterizzato da una neoplasia epiteliale maligna con differenziazione squamosa, di solito localizzata nella regione sopraglottidea o nella glottide. Il tumore può diffondersi alle strutture adiacenti o metastatizzare attraverso i vasi linfatici e sanguigni interessando, rispettivamente, i linfonodi limitrofi o i polmoni, il fegato e le ossa. I principali fattori di rischio sono il fumo di tabacco e (in misura minore) il consumo di alcol. I pazienti presentano raucedine, dispnea, stridore, disfagia, emottisi o odinofagia."},"nl":{"name":"Plaveiselcelcarcinoom van larynx","synonyms":["Plaveiselcelcarcinoom van strottenhoofd"],"definition":"Een zeldzame tumor van hoofd en hals, gekarakteriseerd door een maligne epitheliaal neoplasma met bewijs van squameuze differentiatie, meestal gesitueerd in supraglottis of glottis. De tumor kan zich rechtstreeks naar aangrenzende structuren verspreiden, of metastaseren via lymfe- of bloedvaten naar respectievelijk regionale lymfeklieren of long, lever en bot. Primaire risicofactoren roken van tabak en (in mindere mate) alcoholconsumptie. Patiënten kunnen zich presenteren met heesheid, dyspneu, stridor, dysfagie, hemoptoë, of odynofagie."},"pt":{"name":"Carcinoma de células escamosas da laringe"},"pl":{"name":"Rak płaskonabłonkowy krtani"},"cs":{"name":"Dlaždicobuněčný (spinocelulární) karcinom hrtanu"},"uk":{"name":"Плоскоклітинний рак гортані","definition":"A rare head and neck tumor characterized by a malignant epithelial neoplasm with evidence of squamous differentiation, most commonly located in the supraglottis or glottis. The tumor can spread directly to adjacent structures or metastasize via lymphatic and blood vessels to regional lymph nodes, or lung, liver, and bones, respectively. Primary risk factors are tobacco smoking and (to a lesser extent) alcohol consumption. Patients may present with hoarseness, dyspnea, stridor, dysphagia, hemoptysis, or odynophagia."},"zh":{"name":"喉鳞状细胞癌"},"tr":{"name":"Larinksin skuamöz hücreli karsinomu"}},"xrefs":[{"source":"OMIM","code":"275355","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C32.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2C23.10","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2C23.20","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2C23.30","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0005595","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0280324","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10023856","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","Childhood","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":4.61,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]_28687376[PMID]"}],"phenotypes":null}