{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T01:26:32Z","timestamp":1785374792751,"version":"3.55.0"},"reference-count":41,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,8,21]],"date-time":"2024-08-21T00:00:00Z","timestamp":1724198400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Histopathology"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:sec><jats:title>Aims<\/jats:title><jats:p>A subset of exceptionally rare primary renal perivascular epithelioid cell tumours (PEComas) that harbour Xp11.2 translocation have been reported, but no larger series devoted to this topic have been published.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and Results<\/jats:title><jats:p>We describe the clinicopathological and molecular features of 10 renal PEComas, collected from our routine and consultation files. There were five female and five male patients aged 14\u201365 (median: 32\u2009years). One patient had a history of childhood neuroblastoma, but no patients were known to have a tuberous sclerosis complex or other hereditary disorder. Complete surgical excision was the treatment for all patients. The available follow\u2010up in five patients indicated a favourable outcome in 4\/5 cases. Tumour size ranged from 2.8 to 15.2\u2009cm (median, 5.2\u2009cm). Immunohistochemistry revealed consistently strong TFE3 expression in all tumours, whereas PAX8 and keratin cocktails were uniformly negative. Other positive markers included HMB45 (7\/9 tumours), CathepsinK (7\/9 tumours), and CD117 (KIT) (3\/5 tumours). <jats:italic>TFE3<\/jats:italic> rearrangements were detected in 8\/9 tumours (by targeted RNA sequencing in seven and by FISH in one). The identified fusion partners included <jats:italic>SFPQ<\/jats:italic> (<jats:italic>n<\/jats:italic>\u2009=\u20092) and one tumour each with <jats:italic>ASPSCR1<\/jats:italic>, <jats:italic>ZC3H4<\/jats:italic>, <jats:italic>MED15<\/jats:italic>, <jats:italic>RBMX<\/jats:italic>, and <jats:italic>PRCC<\/jats:italic>. One tumour that lacked <jats:italic>TFE3<\/jats:italic> rearrangement by next\u2010generation sequencing (NGS) and fluorescence <jats:italic>in situ<\/jats:italic> hybridization (FISH) revealed a large intrachromosomal deletion involving <jats:italic>PKD1<\/jats:italic> and <jats:italic>TSC2<\/jats:italic> by DNA\u2010based NGS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study highlights the morphologic and genetic diversity of <jats:italic>TFE3<\/jats:italic>\u2010rearranged primary renal PEComas and underlines the value of surrogate TFE3 immunohistochemistry in identifying them. The lack of PAX8 and keratin expression represents the mainstay for distinguishing these tumours from MiTF\u2010associated renal cell carcinomas. In addition, we report rare (<jats:italic>ZC3H4<\/jats:italic>, <jats:italic>RBMX<\/jats:italic>) and novel (<jats:italic>MED15<\/jats:italic>) <jats:italic>TFE3<\/jats:italic> fusion partners in PEComa.<\/jats:p><\/jats:sec>","DOI":"10.1111\/his.15304","type":"journal-article","created":{"date-parts":[[2024,8,22]],"date-time":"2024-08-22T06:50:50Z","timestamp":1724309450000},"page":"783-793","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["TFE3\u2010rearranged nonmelanotic renal PEComa: a case series expanding their phenotypic and fusion landscape"],"prefix":"10.1111","volume":"85","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0445-8161","authenticated-orcid":false,"given":"Abbas","family":"Agaimy","sequence":"first","affiliation":[{"name":"Institute of Pathology, Erlangen University Hospital, Friedrich Alexander University of Erlangen\u2010Nuremberg Comprehensive Cancer Center, European Metropolitan Area Erlangen\u2010Nuremberg (CCC ER\u2010EMN)  Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8817-6331","authenticated-orcid":false,"given":"Andres M","family":"Acosta","sequence":"additional","affiliation":[{"name":"Department of Pathology Indiana University School of Medicine  Indianapolis IN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6049-5293","authenticated-orcid":false,"given":"Liang","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Department of Surgery (Urology) Brown University Warren Alpert Medical School, the Legorreta Cancer Center at Brown University and Brown University Health  Providence RI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9603-6731","authenticated-orcid":false,"given":"Katrina","family":"Collins","sequence":"additional","affiliation":[{"name":"Department of Pathology Indiana University School of Medicine  Indianapolis IN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0317-7085","authenticated-orcid":false,"given":"Eddie","family":"Fridman","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Pathology, Affiliated to the Faculty of Medicine, Sheba Medical Center Tel Aviv University  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph","family":"Schubart","sequence":"additional","affiliation":[{"name":"Institute of Pathology, Erlangen University Hospital, Friedrich Alexander University of Erlangen\u2010Nuremberg Comprehensive Cancer Center, European Metropolitan Area Erlangen\u2010Nuremberg (CCC ER\u2010EMN)  Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3898-1460","authenticated-orcid":false,"given":"Sean R","family":"Williamson","sequence":"additional","affiliation":[{"name":"Department of Anatomic Pathology Robert J. Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic  Cleveland OH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arndt","family":"Hartmann","sequence":"additional","affiliation":[{"name":"Institute of Pathology, Erlangen University Hospital, Friedrich Alexander University of Erlangen\u2010Nuremberg Comprehensive Cancer Center, European Metropolitan Area Erlangen\u2010Nuremberg (CCC ER\u2010EMN)  Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3142-8846","authenticated-orcid":false,"given":"Kiril","family":"Trpkov","sequence":"additional","affiliation":[{"name":"Diagnostic and Molecular Pathology Alberta Precision Laboratories and University of Calgary  Calgary AL Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,8,21]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0b013e31817ed7a6"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1080\/00313029400169561"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0b013e3181d90370"},{"key":"e_1_2_11_5_1","volume-title":"Urinary and Male Genital Tumours. 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