{"orpha":404511,"name":"Clear cell papillary renal cell carcinoma","type":"Histopathological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-404511/","orphanet_url":"https://www.orpha.net/en/disease/detail/404511","names":{"fr":{"name":"Carcinome rénal papillaire à cellules claires","definition":"Le carcinome rénal papillaire à cellules claires est un sous-type rare et indolent du carcinome rénal à cellules claires, se développant à partir des cellules épithéliales du cortex rénal. Il se manifeste le plus souvent par une petite tumeur unicentrique, unilatérale, bien circonscrite et bien encapsulée qui ne métastase pas en général. Sur le plan clinique, il se présente par une douleur abdominale ou au flanc, ou une hématurie, bien que la plupart des patients soient généralement asymptomatiques au moment du diagnostic. Une présentation bilatérale et/ou multifocale doit faire penser au syndrome de von Hippel-Lindau."},"de":{"name":"Nierenzellkarzinom, klarzelliges papilläres","definition":"Das klarzellige papilläre Nierenzellkarzinom ist ein seltener, indolenter Subtyp des klarzelligen Nierenzellkarzinoms, der von Epithelzellen in der Nierenrinde ausgeht. Am häufigsten manifestiert es sich mit einem gut umschriebenen, gut abgekapselten, unizentrischen, einseitigen, kleinen Tumor, der typischerweise nicht metastasiert. Klinisch kann er sich mit Flanken- oder Bauchschmerzen oder Hämaturie präsentieren, obwohl die meisten Patienten zum Zeitpunkt der Diagnose normalerweise asymptomatisch sind. Eine bilaterale und/oder multifokale Präsentation sollte den Verdacht auf das von-Hippel-Lindau-Syndrom wecken."},"es":{"name":"Carcinoma renal papilar de células claras","definition":"El carcinoma renal papilar de células claras es un subtipo indolente y poco frecuente de carcinoma renal de células claras procedente de las células epiteliales de la corteza renal. Más frecuentemente se manifiesta como un pequeño tumor unicéntrico, unilateral, bien definido y encapsulado que, por lo habitual, no produce metástasis. Clínicamente puede presentarse junto con dolor abdominal o del costado o hematuria, aunque la mayoría de los afectados son, por lo general, asintomáticos en el momento del diagnóstico. La presentación bilateral y/o multifocal debería despertar la sospecha de un síndrome de Hippel-Lindau."},"it":{"name":"Carcinoma renale papillare a cellule chiare","definition":"Il carcinoma renale papillare a cellule chiare è un sottotipo raro e silente di carcinoma renale a cellule chiare, che origina dalle cellule epiteliali della corteccia del rene. Si presenta di solito come un tumore di piccole dimensioni, monoentrico, monolaterale, circoscritto e capsulato, che non tende a metastatizzare. Il quadro clinico comprende il dolore addominale o al fianco e l'ematuria; tuttavia la maggior parte dei pazienti è asintomatica alla diagnosi. La presentazione bilaterale o multifocale deve fare sospettare la sindrome di von Hippel-Lindau."},"nl":{"name":"Heldercellig papillair niercelcarcinoom","definition":"Heldercellig papillair niercelcarcinoom is een zeldzaam, indolent subtype van heldercellig niercelcarcinoom dat ontstaat uit epitheelcellen in de niercortex. In de meeste gevallen manifesteert de aandoening zich met een goed begrensde, goed ingekapselde, unicentrische, kleine tumor die doorgaans niet metastaseert. Klinisch kan het pijn in de zij of de buikholte, of hematurie vertonen, hoewel de meeste patiënten asymptomatisch zijn op het moment van de diagnose. Bij een bilaterale en/of multifocale presentatie dient het vermoeden van syndroom van von Hippel-Lindau te rijzen."},"pt":{"name":"Carcinoma de células renais papilar de células claras"},"pl":{"name":"Rak nerkowokomórkowy brodawkowaty"},"cs":{"name":"Světlobuněčný renální karcinom"},"uk":{"name":"Нирковоклітинний папілярний рак нирки з прозорими клітинами","definition":"Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome."},"zh":{"name":"透明细胞乳头状肾细胞癌","definition":"透明细胞乳头状肾细胞癌是一种罕见，惰性的透明细胞肾癌亚型，起源于肾皮质的上皮细胞。它最常见的表现为界限清楚，包封良好，单中心，单侧的小肿瘤，通常不会转移。尽管大多数患者在诊断时通常无症状，但临床上可出现胁腹或腹痛或血尿。双边和/或多灶性表现应引起对von Hippel-Lindau综合征的怀疑。"},"tr":{"name":"Berrak hücreli papiller renal hücreli karsinom"}},"xrefs":[{"source":"ICD-10","code":"C64","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018448","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518333","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10085663","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":319276,"name":"Clear cell renal carcinoma","classifications":[188,202,233]}],"children":[],"genes":[{"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"]},{"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"]},{"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"]},{"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"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}