{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T09:02:54Z","timestamp":1762851774149,"version":"build-2065373602"},"reference-count":18,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T00:00:00Z","timestamp":1762819200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Oncol."],"abstract":"<jats:p>\n                    <jats:italic>ELOC<\/jats:italic>\n                    (\n                    <jats:italic>TCEB1<\/jats:italic>\n                    )-mutant renal cell carcinoma [\n                    <jats:italic>ELOC<\/jats:italic>\n                    (\n                    <jats:italic>TCEB1<\/jats:italic>\n                    )-RCC] is a newly recognized type of RCC characterized by clear cell morphology and\n                    <jats:italic>ELOC<\/jats:italic>\n                    (\n                    <jats:italic>TCEB1<\/jats:italic>\n                    ) gene mutation. We analyzed one case with a point mutation in\n                    <jats:italic>TCEB1<\/jats:italic>\n                    c.218T&amp;gt;A (p.V73E), which is a novel mutation site and has not been reported in\n                    <jats:italic>ELOC<\/jats:italic>\n                    (\n                    <jats:italic>TCEB1<\/jats:italic>\n                    )-RCC. The case involved a male individual of age 48, whose computed tomography scan of the abdomen indicated the presence of a solid nodule located in the kidney. The tumor cells showed expression of PAX8, CA9, AMACR\/P504S, Vimentin, CK7, CD10, FH, INI1(SMARCB1) and ELOC(TCEB1), and ELOC was mainly located in the nucleus. CD117, TFE3, HMB45, and SDHB were not express, and the expression rate of Ki67 was &amp;lt;5%. The novel variant in\n                    <jats:italic>ELOC<\/jats:italic>\n                    (\n                    <jats:italic>TCEB1<\/jats:italic>\n                    ) gene was identified by the next-generation sequencing (NGS) test, subsequently also confirmed by Sanger sequencing. The\n                    <jats:italic>ELOC<\/jats:italic>\n                    (\n                    <jats:italic>TCEB1<\/jats:italic>\n                    ) gene mutation testing is helpful for the diagnosis of this type of RCC. The case further expands our knowledge of the spectrum of\n                    <jats:italic>TCEB1<\/jats:italic>\n                    gene mutation in\n                    <jats:italic>ELOC<\/jats:italic>\n                    (\n                    <jats:italic>TCEB1<\/jats:italic>\n                    )-RCC and enhances the optimization of clinical decision-making.\n                  <\/jats:p>","DOI":"10.3389\/fonc.2025.1661834","type":"journal-article","created":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T08:58:49Z","timestamp":1762851529000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["A case report: identifying a novel variant in ELOC(TCEB1)-mutant renal cell 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