{"orpha":319325,"name":"Tubulocystic renal cell carcinoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy (\"bubble wrap-like\") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver metastases have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319325/","orphanet_url":"https://www.orpha.net/en/disease/detail/319325","names":{"fr":{"name":"Carcinome rénal tubulokystique","definition":"Le carcinome rénal tubulokystique est un sous-type de carcinome rénal extrêmement rare, le plus souvent caractérisé par une petite tumeur rénale solitaire, bien circonscrite et non encapsulée, composée de multiples kystes de petite ou de moyenne taille, et possédant une surface spongieuse, de couleur blanche à grise (rappelant le « film à bulles »). Les patients sont généralement asymptomatiques ou peuvent présenter une douleur abdominale, une distension abdominale et/ou une hématurie. Ce carcinome progresse, resurgit et métastase rarement, bien que des métastases des ganglions lymphatiques, des os, de la plèvre et du foie aient été rapportées."},"de":{"name":"Nierenzellkarzinom, tubulozystisches","definition":"Das tubulozystische Nierenzellkarzinom ist ein extrem seltener Subtyp des Nierenzellkarzinoms, der am häufigsten durch einen kleinen, solitären, gut umschriebenen, nicht verkapselten Nierentumor charakterisiert ist, der aus mehreren kleinen bis mittelgroßen Zysten mit einer weißen oder grauen, schwammigen (\"bubble wrap-like\") Schnittfläche besteht. Die Patienten sind in der Regel asymptomatisch oder können sich mit abdominalen Schmerzen, abdominaler Distension und/oder Hämaturie manifestieren. Progression, Rezidiv und Metastasierung treten selten auf, obwohl über Lymphknoten-, Knochen-, Pleura- und Lebermetastasen berichtet wurde."},"es":{"name":"Carcinoma renal túbulo-quístico","definition":"El carcinoma renal túbulo-quístico es un subtipo extremadamente infrecuente de carcinoma renal más frecuentemente caracterizado por un tumor renal pequeño, aislado, bien definido, no encapsulado, compuesto de múltiples quistes de pequeño a mediano tamaño con una superficie de corte esponjosa blanca o gris (''como plástico de burbujas''). Los afectados son, por lo general, asintomáticos si bien pueden presentarse con dolor abdominal, distensión abdominal y/o hematuria. En raras ocasiones se produce una progresión, recurrencia y metástasis, aunque se han descrito metástasis en ganglios linfáticos, hueso, pleura e hígado."},"it":{"name":"Carcinoma tubulocistico","definition":"Il carcinoma tubulocistico delle cellule renali è un sottotipo molto raro di carcinoma delle cellule renali, caratterizzato per lo più dalla presenza di un tumore renale singolo e di piccole dimensioni, circoscritto e non incapsulato, composto da diverse cisti piccole o di medie dimensioni con una superficie di taglio bianca o grigia e spugnosa (che ricorda un'imbottitura plastica a bolle d'aria). Di solito i pazienti sono asintomatici oppure presentano dolore o distensione addominale e/o ematuria. La progressione, la ricorrenza e le metastasi sono rare; tuttavia sono stati descritti casi di metastasi a livello dei linfonodi, delle ossa, della pleura e del fegato."},"nl":{"name":"Tubulocystisch niercelcarcinoom","definition":"Tubulocystisch niercelcarcinoom is een uiterst zeldzaam subtype van niercelcarcinoom dat meestal gekarakteriseerd wordt door een kleine, solitaire, goed begrensde, niet-ingekapselde renale tumor bestaande uit meerdere kleine tot middelgrote cysten met een wit of grijs, sponsachtig (noppenfolie-achtig) snijvlak. Patiënten zijn meestal asymptomatisch of kunnen buikpijn, een opgezette buik en/of hematurie vertonen. Progressie, terugkeer en metastase komen zelden voor, hoewel uitzaaiingen in de lymfeklieren, de botten, de pleura en de lever reeds werden gerapporteerd."},"pt":{"name":"Carcinoma de células renais tubuloquístico"},"pl":{"name":"Rak cewkowo-torbielowaty"},"cs":{"name":"Tubulocystický karcinom"},"uk":{"name":"Тубулоцистозний нирковоклітинний рак","definition":"Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy (\"bubble wrap-like\") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver metastases have been reported."},"zh":{"name":"管状囊性肾癌","definition":"肾小管细胞癌是一种极为罕见的肾细胞癌亚型，其最常见特征是小的、孤立的、边界清楚的、无包膜的肾肿瘤，由多个小到中型白色或灰色海绵状囊肿组成。患者通常无症状或表现为腹痛、腹胀和/或血尿。虽然淋巴结、骨、胸膜和肝转移已有报道，但进展、复发和转移很少发生。"},"tr":{"name":"Tubulosistik renal hücreli karsinom"}},"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":"XH7K79","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2132213859"},{"source":"MONDO","code":"0017890","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4288091","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":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult","Elderly"],"prevalence":[],"phenotypes":null}