{"orpha":319298,"name":"Papillary renal cell carcinoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Papillary renal cell adenocarcinoma"],"definition":"Papillary renal cell carcinoma is a rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-Dubé syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319298/","orphanet_url":"https://www.orpha.net/en/disease/detail/319298","names":{"fr":{"name":"Carcinome rénal papillaire","synonyms":["Adénocarcinome rénal papillaire"],"definition":"Le carcinome rénal papillaire est un sous-type rare de carcinome rénal qui se développe à partir de l'épithélium tubulaire et montre un schéma de croissance papillaire. Il se manifeste habituellement par une hématurie, une douleur au flanc, une masse abdominale palpable ou par des signes non spécifiques tels qu'une fatigue, une perte de poids ou une fièvre. Le diagnostic précoce étant rare, des manifestions liées aux métastases sont souvent associées, telles qu'une douleur osseuse ou une toux persistante. Habituellement, le carcinome est multifocal, bilatéral et la plupart du temps sporadique, bien que plusieurs syndromes héréditaires puissent prédisposer à son développement, comme par exemple la léiomyomatose familiale et cancer du rein, le syndrome de Birt-Hogg-Dubé et la sclérose tubéreuse de Bourneville."},"de":{"name":"Nierenzellkarzinom, papilläres","synonyms":["Papilläres Adenokarzinom der Niere"],"definition":"Das papilläre Nierenzellkarzinom ist ein seltener Subtyp des Nierenzellkarzinoms, der vom Nierentubulusepithel ausgeht und ein papilläres Wachstumsmuster aufweist. Das Karzinom macht sich typischerweise mit Hämaturie, Flankenschmerzen, tastbarer abdomineller Masse oder unspezifischen Symptomen wie Müdigkeit, Gewichtsverlust oder Fieber bemerkbar. Symptome im Zusammenhang mit der Ausbreitung der Metastasen, wie Knochenschmerzen oder anhaltender Husten, sind häufig assoziiert, da üblicherweise keine frühe Diagnose erfolgt. Das Auftreten ist typischerweise multifokal, bilateral und in den meisten Fällen sporadisch, obwohl Patienten mit verschiedenen erblichen Syndromen, wie das hereditäre Leiomyom-Nierenzellkarzinom, das Birt-Hogg-Dubé-Syndrom und die Tuberöse Sklerose, eine Prädisposition für die Entwicklung eines papillären Nierenzellkarzinoms aufweisen."},"es":{"name":"Carcinoma papilar de células renales","synonyms":["Adenocarcinoma papilar renal"],"definition":"El carcinoma papilar de células renales es un subtipo poco frecuente de carcinoma de células renales procedente del epitelio tubular renal que muestra un patrón de crecimiento papilar y que, por lo general, se manifiesta con hematuria, dolor en el costado, masa abdominal palpable o síntomas inespecíficos, tales como fatiga, pérdida de peso o fiebre. Los síntomas relacionados con la diseminación metastásica, tales como dolor de huesos o tos persistente, se asocian frecuentemente, puesto que el diagnóstico temprano no es común. Es típicamente multifocal, bilateral y en la mayoría de los casos esporádico, aunque diferentes síndromes hereditarios, tales como la leiomiomatosis hereditaria y carcinoma de células renales, el síndrome de Birt-Hogg-Dubé y la esclerosis tuberosa, pueden predisponer al desarrollo del carcinoma papilar de células renales."},"it":{"name":"Carcinoma papillare delle cellule renali","synonyms":["Adenocarcinoma papillare delle cellule renali"],"definition":"Il carcinoma papillare delle cellule renali è un sottotipo raro di carcinoma delle cellule renali, che origina dall'epitelio del tubulo renale e presenta una crescita papillare; di solito esordisce con ematuria, dolore al fianco ed una massa addominale palpabile, oppure con sintomi aspecifici, quali l'affaticamento, la perdita di peso o la febbre. Dato che la diagnosi viene posta raramente in una fase precoce, i sintomi sono spesso secondari alla disseminazione metastatica, compreso il dolore osseo e la tosse persistente. Di solito è multifocale, bilaterale e, nella maggior parte dei casi, sporadico; tuttavia alcune sindromi ereditarie (come la leiomiomatosi familiare con carcinoma renale, la sindrome di Birt-Hogg-Dubé e la sclerosi tuberosa) costituiscono un fattore di predisposizione per lo sviluppo del carcinoma papillare delle cellule renali."},"nl":{"name":"Papillair niercelcarcinoom","synonyms":["Papillair nierceladenocarcinoom"],"definition":"Papillair niercelcarcinoom is een zeldzaam subtype van niercelcarcinoom dat ontstaat uit epitheel van de nierbuisjes, een papillair groeipatroon vertoont, en zich doorgaans manifesteert met hematurie, pijn in de zij, een tastbare abdominale massa of niet-specifieke symptomen zoals vermoeidheid, gewichtsverlies of koorts. Regelmatig zijn symptomen gerelateerd aan uitzaaiingen, zoals botpijn of aanhoudende hoest, geassocieerd, aangezien een vroege diagnose niet veel voorkomt. Doorgaans is het multifocaal, bilateraal en in de meeste gevallen sporadisch, hoewel verschillende erfelijke syndromen, zoals erfelijke leiomyomatose en niercelcarcinoom, syndroom van Birt-Hogg-Dubé en tubereuze sclerose, de vatbaarheid voor de ontwikkeling van papillair niercelcarcinoom mogelijk kunnen verhogen."},"pt":{"name":"Carcinoma de células renais papilar"},"pl":{"name":"Rak brodawkowaty nerki","synonyms":["Papillary renal cell adenocarcinoma"]},"cs":{"name":"Papilární renální karcinom","synonyms":["Papilární renální adenokarcinom"]},"uk":{"name":"Папілярна нирковоклітинна карцинома","synonyms":["Папілярна нирковоклітинна аденокарцинома"],"definition":"Papillary renal cell carcinoma is a rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-Dubé syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma."},"zh":{"name":"乳头状肾细胞癌","synonyms":["乳头状肾细胞腺癌"],"definition":"乳头状肾细胞癌是一种罕见的肾细胞癌亚型，起源于肾小管上皮并显示出乳头状生长模式，通常表现为血尿，腰痛，明显的腹部肿块或非特异性症状，例如疲劳，体重减轻或发烧。 由于早期不易发现，症状通常与转移扩散相关（如骨痛或持续咳嗽）。 它通常是多灶性的，双侧的，在大多数情况下散发，尽管不同的遗传综合征，例如遗传性平滑肌瘤肾细胞癌，Birt-Hogg-DubÚ综合征和结节性硬化症，都可能促使乳头状肾细胞癌的发展。"},"tr":{"name":"Papiller renal hücreli karsinom","synonyms":["Papiller renal hücreli adenokarsinom"]}},"xrefs":[{"source":"ICD-10","code":"C64","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2C90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"77005587"},{"source":"MONDO","code":"0017884","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1306837","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9572","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10078493","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":[],"genes":[{"symbol":"MET","name":"MET proto-oncogene, receptor tyrosine kinase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"26536169[PMID]","hgnc":"7029","ensembl":"ENSG00000105976","omim":"164860","loci":["7q31.2"]},{"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"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.14,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":null}