{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T16:53:03Z","timestamp":1774975983305,"version":"3.50.1"},"reference-count":43,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2021,8,6]],"date-time":"2021-08-06T00:00:00Z","timestamp":1628208000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The accurate diagnosis of Xp11\u2010translocation renal cell carcinoma (RCC) in adults is challenging. <jats:italic>TFE3<\/jats:italic> (located on chromosome X) fuses with a partner gene generally located on another chromosome. In rare cases <jats:italic>TFE3<\/jats:italic> may fuse with a neighboring gene: <jats:italic>RBM10<\/jats:italic>. Because TFE3 false\u2010positive immunostaining is a common pitfall in many laboratories, demonstration of the chromosomal rearrangement is required in order to ascertain the diagnosis. Fluorescence in situ hybridization (FISH)\u2014that has been considered as the gold standard method\u2014reaches its limits for detecting small Xp11 paracentric inversions. We performed a comprehensive clinical, histological and genomic study of six novel cases of RCC with <jats:italic>RBM10\u2010TFE3<\/jats:italic> fusion. Using FISH, <jats:italic>TFE3<\/jats:italic> rearrangement was equivocal in one case and negative in others. <jats:italic>RBM10\u2010TFE3<\/jats:italic> fusion was discovered using targeted RNA sequencing (RNASeq). As all the previously reported cases (mean age: 50), the six patients were adults (mean age: 42), suggesting an epidemiologic difference between <jats:italic>RBM10\u2010TFE3<\/jats:italic> RCC and tumors harboring some other partner genes, such as <jats:italic>ASPSCR1<\/jats:italic> that rather occur in children. Array\u2010comparative genomic hybridization showed several alterations, notably a gain of 17q in four cases with papillary features and loss of 3p in one case with clear cells. Our study demonstrates that, though rare among adult cases of RCC, <jats:italic>RBM10\u2010TFE3<\/jats:italic> fusion is not exceptional and warrants appropriate molecular detection. Notably, it would be worthy to systemically investigate by RNASeq challenging RCC with type\u20102 papillary features and 17q gain.<\/jats:p>","DOI":"10.1002\/gcc.22985","type":"journal-article","created":{"date-parts":[[2021,8,6]],"date-time":"2021-08-06T19:10:22Z","timestamp":1628277022000},"page":"772-784","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["<i>RBM10\u2010TFE3<\/i> fusions: A FISH\u2010concealed anomaly in adult renal cell carcinomas displaying a variety of morphological and genomic features: Comprehensive study of six novel cases"],"prefix":"10.1002","volume":"60","author":[{"given":"Ilaria","family":"Di Mauro","sequence":"first","affiliation":[{"name":"Laboratory of Solid Tumor Genetics University Hospital of Nice\u2010C\u00f4te d'Azur University  Nice France"},{"name":"Laboratory of Solid Tumor Genetics Institute for Research on Cancer and Aging of Nice (IRCAN), CNRS UMR 7284\/INSERM U1081  Nice 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