A case report: identifying a novel variant in ELOC(TCEB1)-mutant renal cell carcinoma

<i>ELOC</i>(<i>TCEB1</i>)-mutant renal cell carcinoma [<i>ELOC</i>(<i>TCEB1</i>)-RCC] is a newly recognized type of RCC characterized by clear cell morphology and <i>ELOC</i>(<i>TCEB1</i>) gene mutation. We analyzed one case with a point mutation in <i>TCEB1</i> c.218T>A (p.V73E), which is a novel mutation site and has not been reported in <i>ELOC</i>(<i>TCEB1</i>)-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 <5%. The novel variant in <i>ELOC</i>(<i>TCEB1</i>) gene was identified by the next-generation sequencing (NGS) test, subsequently also confirmed by Sanger sequencing. The <i>ELOC</i>(<i>TCEB1</i>) gene mutation testing is helpful for the diagnosis of this type of RCC. The case further expands our knowledge of the spectrum of <i>TCEB1</i> gene mutation in <i>ELOC</i>(<i>TCEB1</i>)-RCC and enhances the optimization of clinical decision-making.