{"orpha":210159,"name":"Adult hepatocellular carcinoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Adult HCC"],"definition":"A rare carcinoma of the liver characterized by one to several or many nodules occurring anywhere within the liver, composed of neoplastic epithelial cells with hepatocellular differentiation. The vast majority of tumors are associated with chronic liver disease (such as hepatitis B or C, or steatohepatitis) or exposure to a variety of exogenous agents. Patients may present with signs and symptoms related to the tumor, as well as to the underlying condition. Common manifestations include right upper quadrant abdominal pain, weight loss, hepatosplenomegaly, jaundice, and ascites. Symptomatic tumors generally have poor prognosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-210159/","orphanet_url":"https://www.orpha.net/en/disease/detail/210159","names":{"fr":{"name":"Carcinome hépatocellulaire de l'adulte","synonyms":["CHC adulte","HCC adulte"],"definition":"Carcinome hépatique rare caractérisée par le développement dans le foie d'un ou plusieurs nodules composés de cellules épithéliales néoplasiques avec une différenciation hépatocellulaire. La grande majorité des tumeurs sont associées à une maladie hépatique chronique (telle que l'hépatite B ou C, ou la stéatohépatite) ou à une exposition à divers agents exogènes. Les patients peuvent présenter des signes et des symptômes liés à la tumeur, ainsi qu'à la maladie sous-jacente. Les manifestations cliniques courantes sont des douleurs abdominales du quadrant supérieur droit, une perte de poids, une hépatosplénomégalie, une jaunisse et une ascite. Chez les patients souffrant de tumeurs symptomatiques, le pronostic est généralement défavorable."},"de":{"name":"Hepatozelluläres Karzinom, adultes","synonyms":["HCC, adultes","Leberzellkrebs im Erwachsenenalter"],"definition":"Ein seltenes Karzinom der Leber, das sich durch einen bis mehrere oder viele Knoten aus neoplastischen Epithelzellen mit hepatozellulärer Differenzierung auszeichnet, die überall in der Leber auftreten. Die überwiegende Mehrheit der Tumoren steht im Zusammenhang mit einer chronischen Lebererkrankung (z. B. Hepatitis B oder C oder Steatohepatitis) oder einer Exposition gegenüber einer Reihe von exogenen Substanzen. Die Patienten können Anzeichen und Symptome aufweisen, die sowohl mit dem Tumor als auch mit der Grunderkrankung zusammenhängen. Zu den üblichen Symptomen gehören Bauchschmerzen im rechten oberen Quadranten, Gewichtsverlust, Hepatosplenomegalie, Gelbsucht und Aszites. Symptomatische Tumore haben im Allgemeinen eine schlechte Prognose."},"es":{"name":"Carcinoma hepatocelular del adulto","synonyms":["CHC del adulto"],"definition":"Es un carcinoma hepático poco frecuente caracterizado por la aparición de uno, varios o múltiples nódulos en cualquier parte del hígado, compuestos por células epiteliales neoplásicas con diferenciación hepatocelular. La gran mayoría de los tumores se asocian a una enfermedad hepática crónica (como la hepatitis B o C, o la esteatohepatitis) o por exposición a diversos agentes exógenos. Los pacientes pueden presentarse con signos y síntomas asociados al tumor o bien con la afección subyacente. Las manifestaciones típicas incluyen dolor abdominal en el cuadrante superior derecho, pérdida de peso, hepatoesplenomegalia, ictericia y ascitis. Por lo general, los tumores sintomáticos presentan peor pronóstico."},"it":{"name":"Carcinoma epatocellulare dell'adulto","synonyms":["HCC dell'adulto"],"definition":"Si tratta di un carcinoma raro del fegato, caratterizzato da uno o più noduli localizzati in qualsiasi porzione del fegato, composti da cellule epiteliali neoplastiche con differenziazione epatocellulare. La maggior parte dei tumori si associa ad epatopatie croniche (epatite B o C, steatoepatite) o all'esposizione a diversi agenti esogeni. I pazienti presentano i sintomi correlati al tumore e alla malattia preesistente. I segni clinici caratteristici comprendono il dolore nel quadrante superiore destro dell'addome, la perdita di peso, l'epatosplenomegalia, l'ittero e l'ascite. I tumori sintomatici in genere hanno una prognosi sfavorevole."},"nl":{"name":"Volwassen hepatocellulair carcinoom","synonyms":["Volwassen HCC"],"definition":"Een zeldzaam carcinoom van lever, gekarakteriseerd door een tot meerdere of vele noduli die eender waar in de lever voorkomen, en bestaan uit neoplastische epitheelcellen met hepatocellulaire differentiatie. De meerderheid van de tumoren is geassocieerd met chronische leverziekte (zoals hepatitis B of C, of steatohepatitis) of blootstelling aan een verscheidenheid van exogene agentia. Patiënten kunnen zich presenteren met verschijnselen en symptomen gerelateerd aan de tumor, alsook aan de onderliggende aandoening. Gangbare manifestaties zijn onder meer pijn in rechter bovenkwadrant van abdomen, gewichtsverlies, hepatosplenomegalie, geelzucht, en ascites. Symptomatische tumoren hebben doorgaans een slechte prognose."},"pt":{"name":"Carcinoma hepatocelular do adulto","synonyms":["HCC do adulto"]},"pl":{"name":"Rak wątrobowokomórkowy dorosłych","synonyms":["HCC dorosłych"]},"cs":{"name":"Hepatocelulární karcinom dospělých","synonyms":["HCC dospělých","Rakovina jater dospělých"]},"uk":{"name":"Гепатоцелюлярна карцинома дорослих","synonyms":["HCC у дорослих"],"definition":"A rare carcinoma of the liver characterized by one to several or many nodules occurring anywhere within the liver, composed of neoplastic epithelial cells with hepatocellular differentiation. The vast majority of tumors are associated with chronic liver disease (such as hepatitis B or C, or steatohepatitis) or exposure to a variety of exogenous agents. Patients may present with signs and symptoms related to the tumor, as well as to the underlying condition. Common manifestations include right upper quadrant abdominal pain, weight loss, hepatosplenomegaly, jaundice, and ascites. Symptomatic tumors generally have poor prognosis."},"zh":{"name":"成人肝细胞癌","synonyms":["成人HCC"],"definition":"成人肝癌是一种罕见的肿瘤性疾病，也是成年期最常见的原发性肝癌，其主要临床表现为肝肿块、腹痛，晚期出现黄疸、恶病质和肝功能衰竭。该病起源于分化良好的肝细胞，然后发展为慢性肝硬化，肝硬化最常见的病因是乙型和丙型肝炎病毒或酗酒。"},"tr":{"name":"Yetişkin hepatoselüler karsinom","synonyms":["Erişkin HCC"]}},"xrefs":[{"source":"OMIM","code":"114550","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C22.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2C12.02","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016216","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0279607","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6608","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":88673,"name":"Hepatocellular carcinoma","classifications":[183,202,233]}],"children":[],"genes":[{"symbol":"CTNNB1","name":"catenin beta 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"10435629[PMID]","hgnc":"2514","ensembl":"ENSG00000168036","omim":"116806","loci":["3p22.1"]},{"symbol":"PDGFRL","name":"platelet derived growth factor receptor like","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"7898930[PMID]_12653892[PMID]","hgnc":"8805","ensembl":"ENSG00000104213","omim":"604584","loci":["8p22"]},{"symbol":"TP53","name":"tumor protein p53","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"8191284[PMID]","hgnc":"11998","ensembl":"ENSG00000141510","omim":"191170","loci":["17p13.1"]},{"symbol":"TSC1","name":"TSC complex subunit 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Assessed","source":"27974549[PMID]","hgnc":"12362","ensembl":"ENSG00000165699","omim":"605284","loci":["9q34.13"]},{"symbol":"TSC2","name":"TSC complex subunit 2","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Assessed","source":"27974549[PMID]","hgnc":"12363","ensembl":"ENSG00000103197","omim":"191092","loci":["16p13.3"]},{"symbol":"AXIN1","name":"axin 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"10700176[PMID]","hgnc":"903","ensembl":"ENSG00000103126","omim":"603816","loci":["16p13.3"]},{"symbol":"CASP8","name":"caspase 8","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"15531912[PMID]","hgnc":"1509","ensembl":"ENSG00000064012","omim":"601763","loci":["2q33.1"]},{"symbol":"PIK3CA","name":"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"15608678[PMID]","hgnc":"8975","ensembl":"ENSG00000121879","omim":"171834","loci":["3q26.32"]},{"symbol":"EGF","name":"epidermal growth factor","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"21440548[PMID]","hgnc":"3229","ensembl":"ENSG00000138798","omim":"131530","loci":["4q25"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":3.22,"area":"Europe","status":"Validated","source":"22033323[PMID]"}],"phenotypes":null}