{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T01:11:25Z","timestamp":1790644285538,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,2,3]],"date-time":"2023-02-03T00:00:00Z","timestamp":1675382400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genes Chromosomes &amp;amp; Cancer"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Transcription factor EB (<jats:italic>TFEB<\/jats:italic>)\u2010rearranged renal cell carcinoma (RCC) exhibits diverse gene fusion patterns and heterogeneous clinicopathologic features. Rare <jats:italic>TFEB\u2010<\/jats:italic>amplified RCCs have been described recently and are associated with a more aggressive clinical course. Herein, we report a case of an 86\u2010year\u2010old man with a solid 9.2\u2010cm kidney tumor that showed a diffuse high\u2010grade sarcomatoid morphology. The tumor demonstrated a novel <jats:italic>BYSL::TFEB<\/jats:italic> fusion containing exons 1\u20132 of the <jats:italic>BYSL<\/jats:italic> gene fused to exons 3\u201310 of <jats:italic>TFEB<\/jats:italic> via next\u2010generation sequencing by using NextSeq sequencer. Fluorescence in situ hybridization (FISH) studies displayed concurrent high\u2010copy number <jats:italic>TFEB<\/jats:italic> amplification in two distinct patterns, a balanced increase of 5\u2032 and 3\u2032 copies, and solely increased 5\u2032 copies, and mouse double minute 2 (<jats:italic>MDM2<\/jats:italic>) gene amplification by using <jats:italic>TFEB<\/jats:italic> (6p21.1) dual\u2010color break\u2010apart probe and <jats:italic>MDM2<\/jats:italic> FISH probe. Notably, the tumor showed a distinctive immunoprofile with overexpressions of TFEB, epithelial membrane antigen, Cathepsin K, and PDL\u20101 (SP263). FISH test for transcription factor binding to IGHM enhancer 3 (<jats:italic>TFE3<\/jats:italic>) was negative for rearrangement and corresponding immunonegativity of TFE3. These findings not only expand the repertoire of known <jats:italic>TFEB<\/jats:italic> fusion partners implicated in tumorigenesis, but also may provide novel information for target therapy.<\/jats:p>","DOI":"10.1002\/gcc.23125","type":"journal-article","created":{"date-parts":[[2023,1,27]],"date-time":"2023-01-27T08:29:33Z","timestamp":1674808173000},"page":"353-360","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Sarcomatoid renal cell tumor harboring a novel <i><scp>BYSL<\/scp>::<scp>TFEB<\/scp><\/i> fusion with concurrent <scp><i>TFEB<\/i><\/scp> amplification"],"prefix":"10.1002","volume":"62","author":[{"given":"Ruihe","family":"Lin","sequence":"first","affiliation":[{"name":"Department of Pathology and Genomic Medicine Thomas Jefferson University Hospital  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizaveta","family":"Flerova","sequence":"additional","affiliation":[{"name":"Department of Pathology and Genomic Medicine Thomas Jefferson University Hospital  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine E.","family":"Wamsley","sequence":"additional","affiliation":[{"name":"Department of Pathology and Genomic Medicine Thomas Jefferson University Hospital  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter A.","family":"McCue","sequence":"additional","affiliation":[{"name":"Department of Pathology and Genomic Medicine Thomas Jefferson University Hospital  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Costas D.","family":"Lallas","sequence":"additional","affiliation":[{"name":"Department of Urology Thomas Jefferson University Hospital  Philadelphia Pennsylvania 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