{"orpha":494547,"name":"Squamous cell carcinoma of the hypopharynx","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 piriform sinus, less frequently the posterior pharyngeal wall or the postcricoid area. 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 odynophagia, dysphagia, signs and symptoms related to a neck mass, voice changes, otalgia, and constitutional symptoms.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-494547/","orphanet_url":"https://www.orpha.net/en/disease/detail/494547","names":{"fr":{"name":"Carcinome épidermoïde de l'hypopharynx","synonyms":["Carcinome épidermoïde hypopharyngé"],"definition":"Tumeur rare de la tête et du cou caractérisée par un néoplasme épithélial malin présentant des signes de différenciation malpighienne, le plus souvent localisé dans le sinus piriforme et moins fréquemment dans la paroi pharyngée postérieure ou la zone postcricoïde. La tumeur peut se propager directement aux structures adjacentes ou métastaser via les vaisseaux lymphatiques et sanguins vers les ganglions lymphatiques régionaux, 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 présenter une odynophagie, une dysphagie, des signes cliniques et symptômes liés à une masse au niveau du cou, des modifications de la voix, une otalgie et des symptômes constitutionnels."},"de":{"name":"Plattenepithelkarzinom des Hypopharynx","synonyms":["Hypopharynxkarzinom, squamöses"],"definition":"Ein seltener Kopf- und Halstumor, der sich als maligne epitheliale Neoplasie mit Zeichen einer Plattenepitheldifferenzierung darstellt und meist im Sinus piriformis, seltener in der Rachenhinterwand oder im Postkrikoidbereich lokalisiert ist. Der Tumor kann sich direkt auf benachbarte Strukturen ausbreiten oder über Lymph- und Blutgefäße in regionale Lymphknoten oder in Lunge, Leber und Knochen metastasieren. Hauptrisikofaktoren sind Rauchen und (in geringerem Maße) Alkoholkonsum. Die Patienten können sich mit Odynophagie, Dysphagie, Anzeichen und Symptomen im Zusammenhang mit Gewebeverdichtungen im Halsbereich, Stimmveränderungen, Otalgie und konstitutionellen Symptomen vorstellen."},"es":{"name":"Carcinoma de células escamosas de la hipofaringe","definition":"Es un tumor poco frecuente de cabeza y cuello caracterizado por una neoplasia epitelial maligna con evidencias de diferenciación escamosa, localizada principalmente en el seno piriforme, y con menor frecuencia en la pared posterior de la faringe o el área postcricoidea. El tumor puede diseminarse directamente a estructuras adyacentes o metastatizar a través de los vasos linfáticos y sanguíneos a los ganglios linfáticos regionales o al pulmón, al hígado y a los huesos, respectivamente. Los principales factores de riesgo son el tabaquismo y (en menor medida) el consumo de alcohol. Los pacientes pueden presentarse con odinofagia, disfagia, signos y síntomas asociados a una masa en el cuello, cambios en la voz, otalgia y síntomas constitucionales."},"it":{"name":"Carcinoma a cellule squamose dell'ipofaringe","definition":"Si tratta di un tumore raro della testa e del collo, caratterizzato da una neoplasia epiteliale maligna con differenziazione squamosa, di solito localizzata nel seno piriforme e, più raramente, nella parete posteriore della faringe o nell'area postcricoidea. Il tumore può diffondersi alle strutture adiacenti o metastatizzare attraverso i vasi linfatici e sanguigni ai linfonodi limitrofi, al polmone, al fegato e alle ossa. I principali fattori di rischio sono il fumo di tabacco e (in misura minore) il consumo di alcol. I pazienti possono presentare odinofagia, disfagia, i sintomi correlati alla presenza di una massa sul collo, alterazioni della voce, otalgia e sintomi costituzionali."},"nl":{"name":"Plaveiselcelcarcinoom van hypofarynx","definition":"Een zeldzame tumor van hoofd en hals, gekarakteriseerd door maligne epitheliaal neoplasma met bewijs van squameuze differentiatie, meestal gesitueerd in sinus piriformis, en minder vaak in achterwand van farynx of de postcricoïd-regio. De tumor kan zich rechtstreeks naar aangrenzende structuren verspreiden, of metastaseren via lymfe- of bloedvaten naar respectievelijk regionale lymfeklieren of long, lever en botten. Primaire risicofactoren roken van tabak en (in mindere mate) alcoholconsumptie. Patiënten presenteren zich mogelijk met odynofagie, dysfagie, verschijnselen en symptomen gerelateerd aan een massa van hals, veranderingen in stem, otalgie, en constitutionele symptomen."},"pt":{"name":"Carcinoma de células escamosas da hipofaringe"},"pl":{"name":"Rak płaskonabłonkowy gardła dolnego"},"cs":{"name":"Dlaždicobuněčný (spinocelulární) karcinom hypofaryngu"},"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 piriform sinus, less frequently the posterior pharyngeal wall or the postcricoid area. 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 odynophagia, dysphagia, signs and symptoms related to a neck mass, voice changes, otalgia, and constitutional symptoms."},"zh":{"name":"下咽鳞状细胞癌"},"tr":{"name":"Hipofarenksin skuamöz hücreli karsinomu"}},"xrefs":[{"source":"OMIM","code":"275355","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C12","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C13.0","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C13.2","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C13.8","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B6D.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"680629191"},{"source":"MONDO","code":"0044638","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0280321","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10041849","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 / 100 000","value":1.27,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]_28687376[PMID]"}],"phenotypes":null}