{"orpha":319322,"name":"Mucinous tubular and spindle cell renal carcinoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Mucinous tubular and spindle cell renal carcinoma is a rare subtype of renal cell carcinoma characterized, histologically, by tubular architecture and sheets of spindle cells embedded in a mucinous/myxoid stroma and, macroscopically, by a solid, generally well-circumscribed, partially encapsulated tumor of variable size, with a homogenously colored, bulging cut surface, occassionally containing areas of hemorrhage or necrosis, usually located in the cortex. Patients can present abdominal/flank pain, adbominal mass and/or hematuria, however most are asymptomatic and tumor is discovered incidentally. Indolent behavior is frequent and association with nephrolithiasis and end-stage kidney disease has been noted.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319322/","orphanet_url":"https://www.orpha.net/en/disease/detail/319322","names":{"fr":{"name":"Carcinome rénal tubulo-mucineux à cellules fusiformes","definition":"Un sous-type rare de carcinome rénal caractérisé sur le plan histologique par une architecture tubulaire et des feuillets de cellules fusiformes intégrées dans un stroma mucineux/myxoïde. Sur le plan macroscopique, il se caractérise par une tumeur solide partiellement encapsulée, habituellement bien circonscrite, de taille variable, avec une surface bosselée de coloration homogène. Elle contient parfois des zones hémorragiques ou nécrotiques, et se trouve généralement dans le cortex. Les patients peuvent présenter une douleur abdominale/au flanc, une masse abdominale et/ou une hématurie. Cependant, la plupart d'entre eux est asymptomatique, la tumeur étant découverte de manière fortuite. Elle a souvent un comportement indolent. L'association d'une néphrolithiase et d'une insuffisance rénale terminale a été rapportée."},"de":{"name":"Muzinöses tubuläres und spindelzelliges Karzinom","definition":"Ein seltener Subtyp des Nierenzellkarzinoms, der histologisch durch eine tubuläre Architektur und Schichten aus Spindelzellen gekennzeichnet ist, die in ein muzinöses/myxoides Stroma eingebettet sind. Die makroskopische Darstellung zeigt einen soliden, in der Regel gut umschriebenen, teilweise abgekapselten Tumor von unterschiedlicher Größe mit einer homogen gefärbten, wulstigen Schnittfläche, die gelegentlich Bereiche mit Blutungen oder Nekrosen enthält, die sich in der Regel im Kortex befinden. Die Patienten können Bauch-/Flankenschmerzen, eine abdominale Masse und/oder Hämaturie aufweisen, die meisten sind jedoch asymptomatisch und der Tumor wird zufällig entdeckt. Zumeist zeigt der Tumor ein langsames Wachstum. Eine Assoziation mit Nephrolithiasis und Nierenerkrankungen im Endstadium wurde beschrieben."},"es":{"name":"Carcinoma renal mucinoso tubular y de células fusiformes","definition":"El carcinoma renal mucinoso tubular y de células fusiformes es un subtipo de carcinoma de células renales poco frecuente, caracterizado histológicamente por una arquitectura tubular con láminas de células fusiformes embebidas en un estroma mixoide/mucinoso y, macroscópicamente, por un tumor sólido, generalmente bien circunscrito, parcialmente encapsulado, de tamaño variable, con una superficie de corte de color homogéneo y abultada, que presenta ocasionalmente zonas de hemorragia o necrosis, generalmente ubicadas en el córtex. Los afectados pueden presentar dolor abdominal o en flancos, masa abdominal y/o hematuria; sin embargo, la mayoría son asintomáticos y el tumor se descubre de manera accidental. El comportamiento indolente es frecuente y se ha observado asociación con nefrolitiasis y enfermedad renal terminal."},"it":{"name":"Carcinoma renale tubulare mucinoso a cellule fusiformi","definition":"Il carcinoma renale tubulare mucinoso a cellule fusiformi è un sottotipo raro di carcinoma renale. Dal punto di vista istologico, è caratterizzato da un'architettura tubulare e da foglietti di cellule fusiformi inseriti in uno stroma mucinoso/mixoide. Dal punto di vista macroscopico, il tumore è solido, di solto ben circoscritto e parzialmente incapsulato, di dimensioni variabili, con superficie sporgente di colore omogeneo, con occasionali aree emorragiche o di necrosi, di solito localizzate nella porzione corticale. I pazienti possono presentare dolore addominale/al fianco, una massa addominale e/o ematuria, anche se la maggior parte di essi è asintomatica e il tumore viene individuato casualmente. Il tumore può essere silente ed associarsi alla nefrolitiasi e alla malattia renale terminale."},"nl":{"name":"Mucineus tubulair en spindelcel renaal carcinoom","definition":"Mucineus tubulair en spindelcel renaal carcinoom is een zeldzaam subtype van niercelcarcinoom dat histologisch gekarakteriseerd wordt door een tubulaire architectuur en lagen van spindelcellen ingebed in een mucineus/myxoïd stroma, en dat macroscopisch gekenmerkt wordt door een solide, doorgaans goed begrensde, deels ingekapselde tumor die een variabele omvang en een homogeen gekleurd en uitstulpend snijvlak vertoont, soms gebieden met hemorragie of necrose bevat, en zich meestal in de cortex situeert. Patiënten vertonen mogelijk pijn in de buik/flanken, een abdominale massa en/of hematurie, maar de meesten zijn echter asymptomatisch en de tumor wordt toevallig ontdekt. Indolent gedrag komt vaak voor en associatie met nefrolithiasis en eindstadium nierfalen werd opgemerkt."},"pt":{"name":"Carcinoma tubular mucinoso e de células fusiformes"},"pl":{"name":"Rak śluzowo-cewkowy i wrzecionowatokomórkowy"},"cs":{"name":"Mucinózní tubulární a vřetenobuněčný karcinom"},"uk":{"name":"Муцинозний тубулярний і веретеноклітинний рак нирки","definition":"Mucinous tubular and spindle cell renal carcinoma is a rare subtype of renal cell carcinoma characterized, histologically, by tubular architecture and sheets of spindle cells embedded in a mucinous/myxoid stroma and, macroscopically, by a solid, generally well-circumscribed, partially encapsulated tumor of variable size, with a homogenously colored, bulging cut surface, occassionally containing areas of hemorrhage or necrosis, usually located in the cortex. Patients can present abdominal/flank pain, adbominal mass and/or hematuria, however most are asymptomatic and tumor is discovered incidentally. Indolent behavior is frequent and association with nephrolithiasis and end-stage kidney disease has been noted."},"zh":{"name":"肾脏黏液小管状和梭形细胞癌","definition":"粘液性肾小管和梭形细胞癌是一种少见的肾细胞癌亚型，其组织学特征是肾小管结构和梭形细胞嵌入粘液/粘液样基质中，肉眼上表现为大小不等、边界清楚、部分包裹的固体肿瘤，切面隆起，颜色均匀，偶有出血或坏死区域，通常位于皮质。患者可表现为腹痛、腹部肿块和/或血尿，但大多数无症状，肿瘤为偶然发现。惰性行为是常见的，并与肾结石和终末期肾病有关。"},"tr":{"name":"Müsinöz tübüler ve iğsi hücreli renal 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":"0003011","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707257","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":["Adolescent","Adult","Elderly"],"prevalence":[],"phenotypes":null}