{"orpha":424996,"name":"Squamous cell carcinoma of gallbladder and extrahepatic biliary tract","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Squamous cell carcinoma of gallblader and EBT"],"definition":"A rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-424996/","orphanet_url":"https://www.orpha.net/en/disease/detail/424996","names":{"fr":{"name":"Carcinome épidermoïde de la vésicule biliaire et des voies biliaires extrahépatiques","synonyms":["Carcinome épidermoïde de la vésicule biliaire et des VBEH"],"definition":"Tumeur rare du foie et des voies biliaires, apparaissant soit dans la vésicule biliaire, soit dans l'épithélium tapissant l'arbre biliaire extrahépatique, le canal cystique et les glandes péri-biliaires. Elle se caractérise par une kératinisation importante avec d'abondantes perles de kératohyaline et un dépôt central de matériel kératinique dense dans des nids infiltrants et par une nature localement agressive. Dans les premiers stades de la maladie, les symptômes sont vagues et non spécifiques (douleurs abdominales, jaunisse et vomissements). Dans les stades avancés, la maladie peut se manifester par une tumeur volumineuse et des symptômes d'atteinte des organes adjacents."},"de":{"name":"Plattenepithelkarzinom der Gallenblase und extrahepatischen Gallengänge","synonyms":["Squamöses Karzinom der Gallenblase und extrahepatischen Gallengänge"],"definition":"Das Plattenepithelkarzinom der Gallenblase und der extrahepatischen Gallenwege ist ein seltener Leber- und Gallenwegtumor. Es entsteht entweder in der Gallenblase selbst oder im Epithel, das den extrahepatischen Gallenbaum, den Ductus cysticus und die peribiliären Drüsen auskleidet. Es ist gekennzeichnet durch eine starke Keratinisierung mit reichlich Keratohyalingranula und zentraler Ablagerung von dichtem Keratinmaterial innerhalb infiltrativer Nester und lokal aggressiver Natur. In den frühen Stadien der Erkrankung sind die Symptome vage und unspezifisch (Bauchschmerzen, Gelbsucht und Erbrechen). In den fortgeschrittenen Stadien kann es sich um einen voluminösen Tumor und Symptome einer Beteiligung benachbarter Organe handeln."},"es":{"name":"Carcinoma de células escamosas de vesícula biliar y vías biliares extrahepáticas","synonyms":["Carcinoma de células escamosas de vesícula y VBE"],"definition":"Es un tumor hepático y del tracto biliar poco frecuente que se origina tanto en la vesícula biliar como en el epitelio que recubre el árbol biliar extrahepático, el conducto cístico y las glándulas peribiliares. Está caracterizado por una queratinización sustancial con abundantes gránulos queratohialinos y una deposición central de material denso de queratina en el interior de de nidos infiltrativos y de naturaleza agresiva a nivel local. En las primeras etapas de la enfermedad, los síntomas son vagos e inespecíficos (dolor abdominal, ictericia y vómitos). En etapas avanzadas, puede presentarse con tumor voluminoso y síntomas de afectación de órganos adyacentes."},"it":{"name":"Carcinoma a cellule squamose della cistifellea e delle vie biliari extraepatiche","synonyms":["Carcinoma a cellule squamose della cistifellea e delle VBE"],"definition":"Il carcinoma a cellule squamose della cistifellea e delle vie biliari extraepatiche è una neoplasia rara del fegato e delle vie biliari, che origina dalla cistifellea o dall'epitelio che riveste l'albero biliare extraepatico, il dotto cistico e le ghiandole peribiliari. È caratterizzato da una marcata cheratinizzazione con abbondanti perle di cheratoialina, da depositi centrali di materiale cheratinico denso all'interno dei nidi delle cellule infiltranti e da una natura localmente aggressiva. Nelle prime fasi della malattia, i sintomi sono sfumati e aspecifici (dolore addominale, ittero e vomito). Negli stati più avanzati, la malattia può manifestarsi con una grossa massa e con sintomi correlati all'interessamento degli organi vicini."},"nl":{"name":"Plaveiselcelcarcinoom van galblaas en extrahepatische galwegen","synonyms":["Plaveiselcelcarcinoom van galblaas en EBT"],"definition":"Een zeldzame tumor van lever en galwegen, die ontstaat in de galblaas zelf of in epitheel dat extrahepatische galwegen, galblaasafvoergang en peribiliaire klieren bekleedt. De tumor wordt gekenmerkt door substantiële keratinisatie met overvloedige keratohyaliene korrels en centrale afzetting van dens keratinemateriaal in infiltratieve nesten en een lokaal agressief karakter. Tijdens de vroege stadia van de ziekte zijn de symptomen vaag en aspecifiek (abdominale pijn, geelzucht en braken). Tijdens de gevorderde stadia kan de ziekte zich manifesteren met een omvangrijke tumor en symptomen van betrokkenheid van aangrenzende organen."},"pt":{"name":"Carcinoma de células escamosas da vesícula biliar e do tracto biliar extra-hepático","synonyms":["Carcinoma de células escamosas da vesícula biliar e do TBEH"]},"pl":{"name":"Rak płaskonabłonkowy pęcherzyka żółciowego i zewnątrzwątrobowego przewodu żółciowego","synonyms":["Rak płaskonabłonkowy pęcherzyka żółciowego i EBT"],"definition":"*Rak płaskonabłonkowy pęcherzyka żółciowego i zewnątrzwątrobowego przewodu żółciowego jest rzadkim nowotworem wątroby i dróg żółciowych, wywodzącym się albo z samego pęcherzyka żółciowym, albo z nabłonka wyścielającego zewnątrzwątrobowe drogi żółciowe, przewód pęcherzykowy i przylegające do dróg żółciowych gruczoły. Charakteryzuje się znaczną keratynizacją, z obecnością licznych keratohialinowych pereł, centralnym odkładaniem gęstego materiału keratynowego w obrębie naciekających gniazd i lokalnie agresywnym charakterem. We wczesnych stadiach choroby objawy są niewyraźne i niespecyficzne (ból brzucha, żółtaczka i wymioty). W zaawansowanych stadiach obecny jest masywny guz i objawy zajęcia sąsiednich narządów."},"cs":{"name":"Dlaždicobuněčný karcinom žlučníku a extrahepatálních žlučových cest","synonyms":["Dlaždicobuněčný karcinom žlučníku a EBT"]},"uk":{"name":"Плоскоклітинний рак жовчного міхура та позапечінкових жовчовивідних шляхів","synonyms":["Плоскоклітинний рак жовчного міхура та EBT"],"definition":"A rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement."},"zh":{"name":"胆囊和肝外胆道鳞状细胞癌","synonyms":["胆囊鳞状细胞癌和EBT"],"definition":"胆囊及肝外胆管鳞状细胞癌是一种罕见的肝和胆道肿瘤，发生于胆囊本身或肝外胆管、胆囊管及胆管周围腺的上皮。其特征是大量角质化，有丰富的透明角质珍珠，在浸润性癌巢内有密集的角蛋白物质在中央沉积，局部具有侵袭性。早期症状无特异性（腹痛、黄疸、呕吐）。在晚期，它可能表现为巨大的肿瘤和邻近器官受累的症状。"},"tr":{"name":"Safra kesesi ve ekstrahepatik safra yollarının skuamöz hücreli karsinomu","synonyms":["Safra kesesi ve EBT'nin skuamöz hücreli karsinomu"]}},"xrefs":[{"source":"ICD-10","code":"C23","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C24.0","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C24.1","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C24.8","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"C24.9","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018537","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707898","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":56044,"name":"Carcinoma of gallbladder and extrahepatic biliary tract","classifications":[183,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.032,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.026,"area":"Austria","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.006,"area":"Belgium","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.027,"area":"Bulgaria","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.025,"area":"Croatia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.124,"area":"Czech Republic","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.037,"area":"Estonia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.026,"area":"Finland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.018,"area":"France","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.055,"area":"Germany","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.043,"area":"Iceland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.018,"area":"Ireland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.037,"area":"Italy","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.005,"area":"Latvia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.033,"area":"Lithuania","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.016,"area":"Norway","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.015,"area":"Poland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.002,"area":"Portugal","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.077,"area":"Slovakia","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.042,"area":"Spain","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.051,"area":"Switzerland","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.014,"area":"Netherlands","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.021,"area":"United Kingdom","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":null}