{"orpha":457246,"name":"Clear cell sarcoma of kidney","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CCSK"],"definition":"Clear cell sarcoma of kidney is a rare, primary, genetic renal tumor usually characterized by a unilateral, unicentric, morphologically diverse tumor that arises from the renal medulla and has a tendency for vascular invasion. Clinically it presents with a palpable abdominal mass, abdominal or flank pain, hematuria, anemia and/or fatigue. Metastatic spread to lymph nodes, bones, lungs, retroperitoneum, brain and liver is common at time of diagnosis and therefore bone pain, cough or neurological compromise may be associated. Metastasis to unusual sites, such as the scalp, neck, nasopharynx, axilla, orbits and epidural space, have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-457246/","orphanet_url":"https://www.orpha.net/en/disease/detail/457246","names":{"fr":{"name":"Sarcome à cellules claires du rein","synonyms":["CCSK","SRCC","Sarcome rénal à cellules claires"],"definition":"Le sarcome à cellules claires du rein est une tumeur rénale primaire, génétique et rare, qui se caractérise habituellement par une tumeur unicentrique, unilatérale et de morphologie diverse qui se développe à partir de la médullaire rénale et a une tendance à l'invasion vasculaire. Sur le plan clinique, il se présente par une masse abdominale palpable, une douleur abdominale ou au flanc, une hématurie, une anémie et/ou une fatigue. Les métastases sont fréquentes au moment du diagnostic et se situent au niveau des ganglions lymphatiques, des os, des poumons, du rétropéritoine, du cerveau et du foie. De ce fait, une douleur osseuse, une toux ou une atteinte neurologique peuvent être associées. Des métastases ont été rapportées dans des sites inhabituels, tels que le cuir chevelu, le cou, le nasopharynx, les aisselles, les orbites et l'espace épidural."},"de":{"name":"Klarzellsarkom der Niere","synonyms":["CCSK"],"definition":"Das Klarzellsarkom der Niere ist ein seltener, primärer, genetischer Nierentumor, der in der Regel durch einen einseitigen, unizentrischen, morphologisch vielfältigen Tumor gekennzeichnet ist, der vom Nierenmark ausgeht und eine Tendenz zur Gefäßinvasion aufweist. Klinisch präsentiert er sich mit einer palpablen abdominalen Masse, Bauch- oder Flankenschmerzen, Hämaturie, Anämie und/oder Müdigkeit. Eine metastatische Ausbreitung in Lymphknoten, Knochen, Lunge, Retroperitoneum, Gehirn und Leber ist zum Zeitpunkt der Diagnose häufig und kann daher mit Knochenschmerzen, Husten oder neurologischen Beeinträchtigungen einhergehen. Es wurde über Metastasen an ungewöhnlichen Stellen wie Kopfhaut, Hals, Nasopharynx, Axilla, Orbita und Epiduralraum berichtet."},"es":{"name":"Sarcoma de células claras del riñón","synonyms":["SCCR"],"definition":"El sarcoma de células claras del riñón es un tumor renal genético, primario, poco frecuente generalmente caracterizado por un tumor de morfología variable, unilateral, unicéntrico, procedente de la médula renal y con tendencia a la invasión vascular. Clínicamente se presenta acompañado de una masa abdominal palpable, dolor abdominal o del costado, hematuria, anemia y/o fatiga. En el momento del diagnóstico es común la diseminación metastásica a los nódulos linfáticos, huesos, pulmones, retroperitoneo, cerebro e hígado, por lo que puede estar asociado a dolor de huesos, tos o compromiso neurológico. También se ha descrito la presencia de metástasis en sitios poco comunes, tales como cuero cabelludo, cuello, nasofaringe, axilas, órbitas y espacio epidural."},"it":{"name":"Sarcoma renale a cellule chiare","definition":"Il sarcoma a cellule chiare del rene è un tumore renale raro, primitivo e genetico, caratterizzato dalla presenza di una massa monolaterale, monocentrica, morfologicamente differenziata, che origina dalla midollare renale e tende a invadere i vasi. Dal punto di vista clinico, si presenta con un tumore addominale palpabile, un dolore all'addome o al fianco, ematuria, anemia e/o affaticamento. Al momento della diagnosi, spesso si osservano metastasi ai linfonodi, alle ossa, ai polmoni, allo spazio retroperitoneale, al cervello e al fegato, che possono associarsi a dolore osseo, tosse o compromissione neurologica. Sono state descritte anche metastasi in sedi poco comuni come il cuoio capelluto, il collo, il naso-faringe, le ascelle, le orbite e lo spazio epidurale."},"nl":{"name":"Heldercellig sarcoom van nier","synonyms":["CCSK"],"definition":"Heldercellig sarcoom van de nier is een zeldzame, primaire, genetische renale tumor die meestal wordt gekarakteriseerd door een unilaterale, unicentrische en morfologisch diverse tumor, die ontstaat uit het niermerg (medulla) en een neiging vertoont tot vasculaire invasie. Klinisch uit de ziekte zich met een tastbare abdominale massa, pijn in de buik of de flank, hematurie, anemie en/of vermoeidheid. Op het moment van diagnose is er vaak uitzaaiing naar lymfeklieren, botten, longen, retroperitoneum, hersenen en lever, en bijgevolg kunnen botpijn, hoest of neurologische complicaties geassocieerd zijn. Metastasen naar ongewone plaatsen zoals de hoofdhuid, hals/nek, nasofarynx, oksels, oogholtes en epidurale ruimte werden ook reeds gerapporteerd."},"pt":{"name":"Sarcoma renal de células claras"},"pl":{"name":"Jasnokomórkowy mięsak nerki","synonyms":["CCSK"]},"cs":{"name":"Světlobuněčný sarkom ledviny","synonyms":["CCSK"]},"uk":{"name":"Світлоклітинна саркома нирки","synonyms":["CCSK"],"definition":"Clear cell sarcoma of kidney is a rare, primary, genetic renal tumor usually characterized by a unilateral, unicentric, morphologically diverse tumor that arises from the renal medulla and has a tendency for vascular invasion. Clinically it presents with a palpable abdominal mass, abdominal or flank pain, hematuria, anemia and/or fatigue. Metastatic spread to lymph nodes, bones, lungs, retroperitoneum, brain and liver is common at time of diagnosis and therefore bone pain, cough or neurological compromise may be associated. Metastasis to unusual sites, such as the scalp, neck, nasopharynx, axilla, orbits and epidural space, have been reported."},"zh":{"name":"肾透明细胞肉瘤","synonyms":["CCSK"],"definition":"肾脏透明细胞肉瘤是一种罕见的原发性、遗传性肾脏肿瘤，其特征通常是单侧、单中心、形态多样的肿瘤，来源于肾髓质，有血管侵犯倾向。临床上表现为可触及的腹部肿块、腹部或侧腹疼痛、血尿、贫血和（或）乏力。诊断时常见转移至淋巴结、骨骼、肺、腹膜后、脑和肝脏，因此可能伴有骨痛、咳嗽或神经系统损害。也有转移到不寻常部位，如头皮、颈部、鼻咽、腋窝、眼眶和硬膜外腔的情况出现。"},"tr":{"name":"Berrak hücreli böbrek sarkomu","synonyms":["CCSK"]}},"xrefs":[{"source":"ICD-10","code":"C64","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"2C90.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"XH0765","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2075716045"},{"source":"MONDO","code":"0005006","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0334488","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10009253","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":183595,"name":"Genetic renal tumor","classifications":[156]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":93619,"name":"Rare renal tumor","classifications":[188,202]}],"children":[],"genes":[{"symbol":"BCOR","name":"BCL6 corepressor","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"26098867[PMID]","hgnc":"20893","ensembl":"ENSG00000183337","omim":"300485","loci":["Xp11.4"]},{"symbol":"IRX2","name":"iroquois homeobox 2","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"25481751[PMID]_26493387[PMID]","hgnc":"14359","ensembl":"ENSG00000170561","omim":"606198","loci":["5p15.33"]},{"symbol":"NUTM2B","name":"NUT family member 2B","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"22294382[PMID]","hgnc":"23445","ensembl":"ENSG00000188199","omim":null,"loci":["10q22.3"]},{"symbol":"NUTM2E","name":"NUT family member 2E","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"22294382[PMID]","hgnc":"23448","ensembl":"ENSG00000228570","omim":null,"loci":["10q22.3"]},{"symbol":"TERT","name":"telomerase reverse transcriptase","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"25481751[PMID]_26493387[PMID]","hgnc":"11730","ensembl":"ENSG00000164362","omim":"187270","loci":["5p15.33"]},{"symbol":"YWHAE","name":"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"22294382[PMID]","hgnc":"12851","ensembl":"ENSG00000108953","omim":"605066","loci":["17p13.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[],"phenotypes":null}