{"orpha":319276,"name":"Clear cell renal carcinoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CCRCC","Clear cell renal cell adenocarcinoma","Clear cell renal cell carcinoma"],"definition":"A rare renal tumor arising from proximal tubular epithelial cells of the renal cortex, characterized histologically by malignant epithelial cells with typical clear cytoplasm in conventional staining methods due to a high glycogen and lipid content, featuring a nested growth pattern. Clinically it may present with hematuria, flank pain, anemia or, less commonly, a palpable abdominal mass.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319276/","orphanet_url":"https://www.orpha.net/en/disease/detail/319276","names":{"fr":{"name":"Carcinome rénal à cellules claires","synonyms":["Adénocarcinome rénal à cellules claires","CCRCC"],"definition":"Tumeur rénale rare qui se développe à partir de cellules épithéliales des tubules proximaux du cortex rénal, caractérisée histologiquement par des cellules épithéliales malignes dont le cytoplasme mis en évidence par les méthodes de coloration conventionnelles apparaît typiquement clair, en raison d'une teneur élevée en glycogène et en lipides, présentant une architecture de croissance en nids. Sur le plan clinique, le carcinome peut se présenter sous la forme d'une hématurie, d'une douleur au flanc, d'une anémie ou, plus rarement, d'une masse abdominale détectable à la palpation."},"de":{"name":"Nierenzellkarzinom, klarzelliges","synonyms":["CCRCC","Klarzelliges Adenokarzinom der Niere","NZK, klarzelliges"],"definition":"Ein seltener Nierentumor, der von den proximalen tubulären Epithelzellen der Nierenrinde ausgeht. Histologisch lassen sich maligne Epithelzellen nachweisen, die ein verschachteltes Wachstumsmuster aufweisen und in konventionellen Färbemethoden aufgrund des hohen Glykogen- und Lipidgehaltes typischerweise mit klarem Zytoplasma erscheinen. Klinische Befunde sind Hämaturie, Flankenschmerzen, Anämie oder seltener tastbare Gewebeverdichtungen im Abdomen."},"es":{"name":"Carcinoma renal de células claras","synonyms":["Adenocarcinoma renal de células claras","CCRCC","Carcinoma de células renales de células claras"],"definition":"Es un tumor renal poco frecuente que surge a partir de las células epiteliales tubulares proximales en la corteza renal. Histológicamente, está caracterizado por células epiteliales malignas con un citoplasma típicamente claro mediante los métodos de tinción convencionales debido a un elevado contenido de glucógeno y lípidos, presentando un patrón de crecimiento en nidos. Clínicamente, puede presentarse con hematuria, dolor en flancos, anemia o, con menor frecuencia, con una masa abdominal palpable."},"it":{"name":"Carcinoma renale a cellule chiare","synonyms":["Adenocarcinoma a cellule chiare","Adenocarcinoma a cellule renali chiare","CCRCC","Carcinoma a cellule renali chiare"],"definition":"Si tratta di una neoplasia rara del rene, che origina dalle cellule epiteliali tubulari prossimali della corteccia renale. Dal punto di vista istologico è caratterizzata da cellule epiteliali maligne con il tipico citoplasma chiaro evidenziato con le colorazioni convenzionali, a causa dell'elevato contenuto di glicogeno e lipidi, con crescita a nido. Dal punto di vista clinico, esordisce con ematuria, dolore al fianco, anemia o, più raramente, con la presenza di una massa addominale palpabile."},"nl":{"name":"Heldercellig renaal carcinoom","synonyms":["CCRCC","Heldercellig adenocarcinoom","Heldercellig nierceladenocarcinoom","Heldercellig niercelcarcinoom"],"definition":"Een zeldzame tumor van nier die ontstaat uit proximale tubulaire epitheelcellen van de nierschors, histologisch gekarakteriseerd door maligne epitheelcellen met typisch helder cytoplasma bij conventionele kleuringsmethoden als gevolg van hoge glycogeen- en lipidegehaltes, en met een genest groeipatroon. Klinisch kan het zich presenteren met hematurie, flankpijn, anemie of, minder gangbaar, een tastbare abdominale massa."},"pt":{"name":"Carcinoma renal de células claras"},"pl":{"name":"Jasnokomórkowy rak nerki","synonyms":["CCRCC","Jasnokomórkowy gruczolakorak"]},"cs":{"name":"Karcinom ledviny ze světlých buněk","synonyms":["CCRCC","Adenokarcinom ze světlých buněk","Adenokarcinom ze světlých renálních buněk","Světlobuněčný karcinom ledviny"]},"uk":{"name":"Рідкоклітинний рак нирки","synonyms":["CCRCC","Нирковоклітинна аденокарцинома","Нирковоклітинний рак нирки з прозорими клітинами"],"definition":"A rare renal tumor arising from proximal tubular epithelial cells of the renal cortex, characterized histologically by malignant epithelial cells with typical clear cytoplasm in conventional staining methods due to a high glycogen and lipid content, featuring a nested growth pattern. Clinically it may present with hematuria, flank pain, anemia or, less commonly, a palpable abdominal mass."},"zh":{"name":"透明细胞肾癌","synonyms":["透明细胞肾细胞腺癌"],"definition":"一种罕见的肾肿瘤，起源于肾皮质的近端肾小管上皮细胞，在组织学上表现为恶性上皮细胞，由于糖原和脂质含量高，在常规染色方法中具有典型的透明细胞质，具有嵌套生长模式。临床上可表现为血尿、腰痛、贫血，或不太常见的腹部肿块。"},"tr":{"name":"Berrak hücreli böbrek karsinomu","synonyms":["CCRCC","Berrak hücreli böbrek hücreli karsinom","Berrak hücreli böbrek hücreli adenokarsinom"]}},"xrefs":[{"source":"ICD-10","code":"C64","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2C90.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"XH46F1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"146744831"},{"source":"MONDO","code":"0005005","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0279702","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9574","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10073251","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":217071,"name":"Renal cell carcinoma","classifications":[188,202,233]}],"children":[{"orpha":404511,"name":"Clear cell papillary renal cell carcinoma","type":"Histopathological subtype"},{"orpha":319287,"name":"Multilocular cystic renal neoplasm of low malignant potential","type":"Histopathological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"HNF1A","name":"HNF1 homeobox A","gene_type":"gene with protein product","association":"Biomarker tested in","status":"Not yet assessed","source":"8620471[PMID]_15649945[PMID]","hgnc":"11621","ensembl":"ENSG00000135100","omim":"142410","loci":["12q24.31"],"via":{"orpha":404511,"name":"Clear cell papillary renal cell carcinoma"}},{"symbol":"MITF","name":"melanocyte inducing transcription factor","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"22012259[PMID]","hgnc":"7105","ensembl":"ENSG00000187098","omim":"156845","loci":["3p13"],"via":{"orpha":404511,"name":"Clear cell papillary renal cell carcinoma"}},{"symbol":"PBRM1","name":"polybromo 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"25911086[PMID]","hgnc":"30064","ensembl":"ENSG00000163939","omim":"606083","loci":["3p21.1"],"via":{"orpha":404511,"name":"Clear cell papillary renal cell carcinoma"}},{"symbol":"TMEM127","name":"transmembrane protein 127","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"24334765[PMID]","hgnc":"26038","ensembl":"ENSG00000135956","omim":"613403","loci":["2q11.2"],"via":{"orpha":404511,"name":"Clear cell papillary renal cell carcinoma"}}],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.99,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":null}