{"orpha":401920,"name":"Fibrolamellar hepatocellular carcinoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FHCC","Fibrolamellar hepatocarcinoma"],"definition":"A rare variant of hepatocellular carcinoma (HCC) presenting in adolescents or young adults with no underlying liver disease. Clinical presentation is non specific, with abdominal mass, abdominal discomfort or pain, fatigue and weight loss. Patients can also be asymptomatic. HCC markers (alpha fetoprotein) are normal. Fibrolamellar HCC presents as a unique, well-delimited mass at imagery and a biopsy confirms the diagnosis, showing well-differentiated tumor cells surrounded by thick collagen bands.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-401920/","orphanet_url":"https://www.orpha.net/en/disease/detail/401920","names":{"fr":{"name":"Carcinome hépatocellulaire fibrolamellaire","synonyms":["CHCF","Carcinome fibrolamellaire du foie","FHCC","Hépatocarcinome fibrolamellaire"],"definition":"Variante rare du carcinome hépatocellulaire (CHC) apparaissant chez des adolescents ou de jeunes adultes en l'absence d'une maladie hépatique sous-jacente. La présentation clinique est non spécifique, avec une masse abdominale, une gêne ou une douleur abdominale, une fatigue et une perte de poids. Les patients peuvent également être asymptomatiques. Les marqueurs du CHC (alpha-foetoprotéine) sont normaux. Le CHC fibrolamellaire apparait sous la forme d'une masse solitaire et bien circonscrite à l'imagerie et une biopsie confirme le diagnostic, révélant des cellules tumorales bien différenciées entourées d'épaisses fibres de collagène."},"de":{"name":"Hepatozelluläres Karzinom, fibrolamelläres","synonyms":["FHCC","Fibrolamelläres HCC"],"definition":"Eine seltene Variante des hepatozellulären Karzinoms (HCC), die bei Jugendlichen oder jungen Erwachsenen ohne zugrunde liegende Lebererkrankung auftritt. Die klinische Präsentation ist unspezifisch, mit Gewebeverdichtung, abdominalem Unbehagen oder Schmerzen, Müdigkeit und Gewichtsverlust. Die Patienten können auch asymptomatisch sein. Die HCC-Marker (Alpha-Fetoprotein) sind normal. Fibrolamelläres HCC zeigt sich als einzigartige, gut abgegrenzte Gewebeverdichtung bei der Bildgebung, und eine Biopsie bestätigt die Diagnose, da sie gut differenzierte Tumorzellen zeigt, die von dicken Kollagenbändern umgeben sind."},"es":{"name":"Carcinoma hepatocelular fibrolamelar","synonyms":["FHCC","Hepatocarcinoma fibromelar"],"definition":"Es una variante poco frecuente del carcinoma hepatocelular (CHC) que aparece en adolescentes o en adultos jóvenes sin una enfermedad hepática subyacente. La presentación clínica es inespecífica, con una masa abdominal, molestias o dolor abdominal, cansancio y pérdida de peso. Los pacientes también pueden permanecer asintomáticos. Los marcadores del CHC (alfa-fetoproteína) son normales. El CHC fibrolamelar se presenta en los estudios de imagen como una masa única, bien delimitada y una biopsia confirma el diagnóstico/ el diagnóstico se confirma por una biopsia, que muestra unas células tumorales diferenciadas rodeadas de bandas gruesas de colágeno."},"it":{"name":"Carcinoma epatocellulare fibrolamellare","synonyms":["Epatocarcinoma fibrolamellare","FHCC"],"definition":"Si tratta di una variante rara di carcinoma epatocellulare (HCC), che colpisce gli adolescenti o i giovani adulti, in assenza di una precedente epatopatia. Il quadro clinico è aspecifico e comprende la presenza di una massa addominale, una sensazione di fastidio o il dolore addominale, l'affaticamento e la perdita di peso. I pazienti possono anche essere asintomatici. I marcatori HCC (alfafetoproteina) sono normali. Le immagini diagnostiche dell'HCC fibrolamellare mostrano una massa singola bene delimitata; la biopsia conferma la diagnosi, ed evidenzia cellule neoplastiche ben differenziate circondate da spesse bande di collagene."},"nl":{"name":"Fibrolamellair hepatocellulair carcinoom","synonyms":["FHCC","Fibrolamellair hepatocarcinoom"],"definition":"Een zeldzame variant van hepatocellulair carcinoom (HCC) die voorkomt bij adolescenten of jongvolwassenen zonder onderliggende leverziekte. De klinische presentatie is niet specifiek, met abdominale massa, abdominaal ongemak of buikpijn, vermoeidheid en gewichtsverlies. Patiënten kunnen ook asymptomatisch zijn. HCC-merkers (alfa-foetoproteïne) zijn normaal. Fibrolamellair HCC presenteert zich als een enkele, goed afgelijnde massa bij beeldvorming, en aantonen van goed gedifferentieerde tumorcellen omringd door dikke collageenbanden na biopsie bevestigt de diagnose."},"pt":{"name":"Carcinoma hepatocelular fibrolamelar","synonyms":["FHCC","Hepatocarcinoma fibrolamelar"]},"pl":{"name":"Postać włóknisto-blaszkowa raka wątrobowokomórkowego","synonyms":["FHCC","Postać włóknisto-blaszkowa raka wątroby"]},"cs":{"name":"Fibrolamelární hepatocelulární karcinom","synonyms":["FHCC","Fibrolamelární hepatokarcinom"]},"uk":{"name":"Фіброламелярна гепатоцелюлярна карцинома","synonyms":["FHCC","Фіброламелярна гепатокарцинома"],"definition":"A rare variant of hepatocellular carcinoma (HCC) presenting in adolescents or young adults with no underlying liver disease. Clinical presentation is non specific, with abdominal mass, abdominal discomfort or pain, fatigue and weight loss. Patients can also be asymptomatic. HCC markers (alpha fetoprotein) are normal. Fibrolamellar HCC presents as a unique, well-delimited mass at imagery and a biopsy confirms the diagnosis, showing well-differentiated tumor cells surrounded by thick collagen bands."},"zh":{"name":"纤维板层肝细胞癌","synonyms":["纤维板层型肝癌"],"definition":"罕见突变相关的肝细胞癌可在无肝脏疾病的青少年或青年中发生。临床表现没有特异性：异常团块，腹部异常感觉或疼痛，易疲劳，体重减轻。患者也可以无症状。肝细胞癌（甲胎蛋白）可正常。纤维板层肝细胞癌在影像中可表现为单一的，无明显边界团块。活检可协助诊断，为分化度较好的肿瘤细胞，外周包裹较厚弹性蛋白壁。"},"tr":{"name":"Fibrolameller hepatoselüler karsinom","synonyms":["FHCC","Fibrolameller hepatokarsinom"]}},"xrefs":[{"source":"ICD-10","code":"C22.0","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"2C12.02","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"290874188"},{"source":"ICD-11","code":"XH9Q35","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"816710635"},{"source":"MONDO","code":"0006210","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537258","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0334287","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":424936,"name":"Carcinoma of liver and intrahepatic biliary tract","classifications":[183,202]},{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]}],"children":[],"genes":[{"symbol":"DNAJB1","name":"DnaJ heat shock protein family (Hsp40) member B1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"24578576[PMID]","hgnc":"5270","ensembl":"ENSG00000132002","omim":"604572","loci":["19p13.12"]},{"symbol":"PRKACA","name":"protein kinase cAMP-activated catalytic subunit alpha","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"24578576[PMID]","hgnc":"9380","ensembl":"ENSG00000072062","omim":"601639","loci":["19p13.12"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.02,"area":"United States","status":"Validated","source":"SEER Surveillance Epidemiology and end results [OTHER]_14999699[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.009,"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":0.019,"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":0.029,"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":0.029,"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":0.018,"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":0.002,"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":0.031,"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":0.019,"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":0.022,"area":"Ireland","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":0.13,"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":0.022,"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":0.003,"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":0.005,"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":0.006,"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":0.008,"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":0.009,"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":0.017,"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":0.022,"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":0.016,"area":"United Kingdom","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":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":null}