Work

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

Year: 2025

Type: article

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

Source: Frontiers in Oncology

DOI: 10.3389/fonc.2025.1661834

Authors: Hai-Peng Cheng, Na-Mei Li, Ke-Xin Zeng, Peng Zhou, Xiao-Hong Li

Institutions: Central South University, Second Xiangya Hospital of Central South University, Xiangya Hospital Central South University

Language: English

Topic: Renal cell carcinoma treatment

Subfield: Pulmonary and Respiratory Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,801