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A 36-year-old woman with uterine leiomyomas presented with a 5.1-cm left renal sinus mass and retroperitoneal adenopathy. Biopsy showed juxtaposed lower-grade oncocytic (PAX8 strong, GATA3 weak) and higher-grade pleomorphic (PAX8 negative, GATA3 and CK7 strong) components. DNA sequencing revealed germline pathogenic\n                    <jats:italic toggle=\"yes\">FH<\/jats:italic>\n                    p.S419P, clonal\n                    <jats:italic toggle=\"yes\">TP53<\/jats:italic>\n                    p.H193D, and subclonal\n                    <jats:italic toggle=\"yes\">NF2<\/jats:italic>\n                    and\n                    <jats:italic toggle=\"yes\">KMT2A<\/jats:italic>\n                    mutations, establishing FH-deficient RCC associated with hereditary leiomyomatosis and renal cell carcinoma syndrome. Nivolumab\u2009+\u2009cabozantinib reduced the lesion before nephrectomy, which showed predominantly pleomorphic tumor cells that were PAX8 negative and GATA3\/p63 positive, mimicking upper tract urothelial carcinoma. Transcriptome sequencing mapped the tumor midway between renal and bladder cancer. Postoperatively, nivolumab\u2009+\u2009ipilimumab with radiotherapy achieved disease control. In this hypothesis-generating case report,\n                    <jats:italic toggle=\"yes\">TP53<\/jats:italic>\n                    ,\n                    <jats:italic toggle=\"yes\">NF2<\/jats:italic>\n                    , and\n                    <jats:italic toggle=\"yes\">KMT2A<\/jats:italic>\n                    secondary alterations on an\n                    <jats:italic toggle=\"yes\">FH<\/jats:italic>\n                    -null background were associated with lineage infidelity, which can create diagnostic challenges that underscores the role for integrated pre\u2011 and post\u2011treatment multi\u2011omics in diagnostically ambiguous renal tumors.\n                  <\/jats:p>","DOI":"10.1177\/17588359261456676","type":"journal-article","created":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T05:14:16Z","timestamp":1781673256000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Lineage infidelity in FH-deficient RCC with secondary somatic alterations: a case report and implications for diagnosis and treatment"],"prefix":"10.1177","volume":"18","author":[{"given":"Jianping","family":"Zhao","sequence":"first","affiliation":[{"name":"Department of Anatomical Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Derek B.","family":"Allison","sequence":"additional","affiliation":[{"name":"Allison Department of Pathology and Laboratory Medicine, University of Kentucky College of Medicine, Lexington, KY 40536, USA"},{"name":"Department of Urology, University of Kentucky College of Medicine, Lexington, KY, USA Markey Cancer Center, Lexington, KY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giannicola","family":"Genovese","sequence":"additional","affiliation":[{"name":"Department of Genitourinary Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA"},{"name":"Department of Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA"},{"name":"David H. 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