{"orpha":319308,"name":"MiT family translocation renal cell carcinoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Carcinoma associated with MITF/TFE translocation","Translocation renal cell carcinoma"],"definition":"MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the <i>TFE3</i> (Xp11 t-RCC) or <i>TFEB</i> [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319308/","orphanet_url":"https://www.orpha.net/en/disease/detail/319308","names":{"fr":{"name":"Carcinome rénal associé à une translocation de la famille MiT","synonyms":["Carcinome rénal associé à une translocation MITF/TFE"],"definition":"Un sous-type rare de carcinome rénal associé à des anomalies génétiques récurrentes, portant des réarrangements au niveau du gène <i>TFE3</i> (Xp11 t-RCC) ou <i>TFEB</i> [t(6;11) t-RCC]. Le signe histologique distinctif de la forme t(6;11) t-RCC est une apparence biphasique, avec des cellules épithélioïdes plus larges et des cellules éosinophiles plus petites. Habituellement, les symptômes ne sont pas spécifiques et incluent une hématurie, une douleur au flanc, une masse abdominale palpable et/ou des signes systémiques d'anémie, de fatigue et de fièvre."},"de":{"name":"Translokationsassoziiertes Nierenzellkarzinom der MiT-Familie","synonyms":["Karzinom mit Translokation","Karzinom mit assoziierter MITF/TFE-Translokation"],"definition":"Das translokationsassoziierte Nierenzellkarzinom der MiT-Familie (t-RCC) ist ein seltener Subtyp des Nierenzellkarzinoms mit wiederkehrenden genetischen Anomalien, die Rearrangements der Gene <i>TFE3</i> (Xp11 t-RCC) oder <i>TFEB</i> [t(6;11) t-RCC] umfassen. Das t(6;11) t-RCC zeigt charakteristische histologische Merkmale eines biphasischen Erscheinungsbildes mit größeren epitheloiden und kleineren eosinophilen Zellen. Die Symptome sind in der Regel unspezifisch und umfassen Hämaturie, Flankenschmerzen, tastbare abdominelle Masse und/oder systemische Symptome wie Anämie, Müdigkeit und Fieber."},"es":{"name":"Carcinoma de células renales con translocación de la familia MiT","synonyms":["Carcinoma asociado a la translocación MITF/TFE","Carcinoma de células renales con translocación"],"definition":"El carcinoma de células renales con translocación de la familia MiT (t-RCC) es un subtipo poco frecuente de carcinoma de células renales con anomalías genéticas recurrentes, que alberga reordenamientos de los genes <i> TFE3 </i> (Xp11 t-RCC) o <i> TFEB </ i > [t (6; 11) t-RCC]. El t-RCC t (6; 11) tiene características histológicas distintivas de aspecto bifásico con células epitelioides más grandes y eosinófilas más pequeñas. Por lo general, los síntomas son inespecíficos e incluyen hematuria, dolor en flanco, masa abdominal palpable y/o síntomas sistémicos de anemia, fatiga y fiebre."},"it":{"name":"Carcinoma a cellule renali con traslocazione della famiglia MiT","definition":"Il carcinoma a cellule renali con traslocazione della famiglia MiT (t-RCC) è un sottotipo raro di carcinoma delle cellule renali con anomalie genetiche ricorrenti, che consistono in traslocazioni dei geni TFE3 (Xp11 t-RCC) o TFEB [t(6;11) t-RCC]. La forma t(6;11) t-RCC ha un aspetto istologico bifasico, con cellule epiteloidi più grandi e cellule eosinofile più piccole. Di solito i sintomi sono aspecifici e comprendono l'ematuria, il dolore al fianco, la presenza di una massa addominale palpabile e/o sintomi sistemici come l'anemia, l'affaticamento e la febbre."},"nl":{"name":"Niercelcarcinoom met translocatie in MiT-familie","synonyms":["Carcinoom geassocieerd met MITF/TFE-translocatie","Niercelcarcinoom met translocatie"],"definition":"Niercelcarcinoom met translocatie van de MiT-familie (t-RCC) is een zeldzaam subtype van niercelcarcinoom met terugkerende genetische afwijkingen, die herschikkingen van het gen <i>TFE3</i> (Xp11 t-RCC) of <i>TFEB</i> [t(6;11) t-RCC] herbergen. Het t(6;11) t-RCC heeft als typische histologische kenmerken een bifasisch verloop met grotere epitheloïde en kleinere eosinofiele cellen. De symptomen zijn meestal niet specifiek en omvatten hematurie, pijn in de flank, tastbare abdominale massa en/of de systemische symptomen anemie, vermoeidheid en koorts."},"pt":{"name":"Carcinoma de translocação de células renais"},"pl":{"name":"Rodzinny rak nerkowokomórkowy związany z translokacją MiT","synonyms":["Rak związany z translokacją MITF/TFE"]},"cs":{"name":"Translokační karcinom ledviny","synonyms":["Karcinom asociovaný s MITF/TFE translokací","Translokační karcinom"]},"uk":{"name":"Транслокаційна нирковоклітинна карцинома родини MiT","synonyms":["Карцинома, асоційована з транслокацією MITF/TFE","Транслокаційна нирковоклітинна карцинома"],"definition":"MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the <i>TFE3</i> (Xp11 t-RCC) or <i>TFEB</i> [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever."},"zh":{"name":"MiT家族易位性肾细胞癌","synonyms":["MITF/TFE易位相关癌"],"definition":"MiT家族易位性肾细胞癌（t-RCC）是一种罕见的肾细胞癌亚型，是一种复发性的遗传病，存在TFE3（Xp11 t-RCC）或TFEB[t（6；11）t-RCC]基因重排。t（6；11）t-RCC在组织学上呈现独特的双相特征，即上皮细胞变大，嗜酸性细胞变小。症状通常是非特异性的，包括血尿、腰痛、可触及的腹部肿块和/或贫血、疲劳和发热等全身症状。"},"tr":{"name":"MiT ailesi translokasyon renal hücreli karsinom","synonyms":["Translokasyon böbrek hücreli karsinom","MITF / TFE translokasyonu ile ilişkili karsinom"]}},"xrefs":[{"source":"OMIM","code":"300854","qualifier":"BTNT","icd_relation":null,"validated":true},{"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":"0017886","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518356","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":[{"symbol":"ASPSCR1","name":"ASPSCR1 tether for SLC2A4, UBX domain containing","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"15992428[PMID]_22207547[PMID]_20073616[PMID]","hgnc":"13825","ensembl":"ENSG00000169696","omim":"606236","loci":["17q25.3"]},{"symbol":"CLTC","name":"clathrin heavy chain","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"12917640[PMID]_20073616[PMID]","hgnc":"2092","ensembl":"ENSG00000141367","omim":"118955","loci":["17q23.1"]},{"symbol":"NONO","name":"non-POU domain containing octamer binding","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"9393982[PMID]_20073616[PMID]","hgnc":"7871","ensembl":"ENSG00000147140","omim":"300084","loci":["Xq13.1"]},{"symbol":"PRCC","name":"proline rich mitotic checkpoint control factor","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"8872474[PMID]_22207547[PMID]_20073616[PMID]","hgnc":"9343","ensembl":"ENSG00000143294","omim":"179755","loci":["1q23.1"]},{"symbol":"SFPQ","name":"splicing factor proline and glutamine rich","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"9393982[PMID]_20073616[PMID]","hgnc":"10774","ensembl":"ENSG00000116560","omim":"605199","loci":["1p34.3"]},{"symbol":"TFE3","name":"transcription factor binding to IGHM enhancer 3","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"23426439[PMID]_22207547[PMID]","hgnc":"11752","ensembl":"ENSG00000068323","omim":"314310","loci":["Xp11.23"]},{"symbol":"TFEB","name":"transcription factor EB","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"12837690[PMID]_23426439[PMID]","hgnc":"11753","ensembl":"ENSG00000112561","omim":"600744","loci":["6p21.1"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Adult","Childhood","Elderly","Infancy"],"prevalence":[],"phenotypes":null}