{"orpha":319319,"name":"Renal medullary carcinoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Renal medullary carcinoma is a rare, aggressive subtype of renal cell carcinoma characterized by a large, white or tan, firm, infiltrative tumor with microabscess-like foci centered in the renal medulla, typically presenting with hematuria, abdominal/flank pain, weight loss and fever. It is associated with sickle cell trait and disease and metastasis to the bones and lungs is common at time of diagnosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319319/","orphanet_url":"https://www.orpha.net/en/disease/detail/319319","names":{"fr":{"name":"Carcinome rénal médullaire","definition":"Le carcinome rénal médullaire est un sous-type rare et agressif de carcinome rénal caractérisé par une tumeur large, ferme, de couleur blanche ou brun clair, infiltrante et possédant des foci de type micro-abcès au sein de la médullaire rénale. Il se présente habituellement par une hématurie, une douleur abdominale/au flanc, une perte de poids et une fièvre. Il est associé à un trait drépanocytaire et à une drépanocytose. Les métastases osseuses et pulmonaires sont fréquentes au moment du diagnostic."},"de":{"name":"Nierenkarzinom, medulläres","definition":"Das medulläre Nierenkarzinom ist ein seltener, aggressiver Subtyp des Nierenzellkarzinoms, der durch einen großen, weißen oder hellbraunen, festen, infiltrativen Tumor mit mikroabszessartigen Herden gekennzeichnet ist, der im Nierenmark zentriert ist und sich typischerweise mit Hämaturie, Bauch-/Flankenschmerzen, Gewichtsverlust und Fieber präsentiert. Er ist mit Sichelzellanämie assoziiert, und zum Zeitpunkt der Diagnose sind Metastasen in den Knochen und der Lunge häufig."},"es":{"name":"Carcinoma medular renal","definition":"El carcinoma medular renal es un subtipo agresivo y poco frecuente del carcinoma de células renales caracterizado por un tumor infiltrativo grande, de color blanco o tostado, firme y con focos similares a microabscesos centrados en la médula renal, presentándose habitualmente con hematuria, dolor abdominal/del costado, pérdida de peso y fiebre. Se asocia con rasgos falciformes y la enfermedad y la metástasis ósea y pulmonar en el momento del diagnóstico son comunes."},"it":{"name":"Carcinoma della midollare renale","definition":"Il carcinoma della midollare renale è un sottotipo raro e aggressivo di carcinoma delle cellule renali; è caratterizzato dalla presenza di un tumore infiltrante solido di grandi dimensioni, bianco o marrone chiaro, che presenta foci simili a microascessi localizzati nella midollare renale; di solito esordisce con ematuria, dolore addominale/al fianco, perdita di peso e febbre. Si associa alla condizione di portatore sano per la falcemia e all'anemia a cellule falciformi; al momento della diagnosi sono comuni le metastasi alle ossa e ai polmoni."},"nl":{"name":"Renaal medullair carcinoom","definition":"Renaal medullair carcinoom is een zeldzaam, agressief subtype van niercelcarcinoom dat wordt gekarakteriseerd door een grote, witte of geelbruine, stevige, infiltratieve tumor met microabces-achtige foci gecentreerd in het niermerg, en doorgaans tot uiting komt met hematurie, pijn in de buik/flank, gewichtsverlies en koorts. Het is geassocieerd met sikkelcelkenmerken en -ziekte, en op het moment van de diagnose is er vaak metastase naar de botten en de longen."},"pt":{"name":"Carcinoma medular renal"},"pl":{"name":"Rak rdzeniasty nerki"},"cs":{"name":"Medulární karcinom ledviny"},"uk":{"name":"Медулярна карцинома нирки","definition":"Renal medullary carcinoma is a rare, aggressive subtype of renal cell carcinoma characterized by a large, white or tan, firm, infiltrative tumor with microabscess-like foci centered in the renal medulla, typically presenting with hematuria, abdominal/flank pain, weight loss and fever. It is associated with sickle cell trait and disease and metastasis to the bones and lungs is common at time of diagnosis."},"zh":{"name":"肾髓样癌","definition":"肾髓质癌是一种罕见的侵袭性肾细胞癌亚型，其特征是体积大、白色或棕褐色、坚硬的浸润性肿瘤，病灶位于肾髓质内，典型表现为血尿、腹痛、腰痛、体重减轻和发热。它与镰状细胞遗传性状和疾病有关，在确诊时常常已经转移到骨骼和肺部。"},"tr":{"name":"Renal medüller 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":"MONDO","code":"0006260","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4049328","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13175","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10064886","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"],"prevalence":[{"type":"Annual incidence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":null}