Work

Identifying a novel variant in ELOC (TCEB1)-mutant renal cell carcinoma: a case report and literature review

Year: 2026

Type: article

Abstract: Background ELOC ( TCEB1 )-mutant renal cell carcinoma (RCC) is a recently recognized molecular subtype formally included the 2022 World Health Organization (WHO) classification. Although morphologically overlapping with clear cell renal cell carcinoma (ccRCC), it remains clinically and radiographically indistinguishable from other RCC subtypes. Because few cases have been reported, we describe an ELOC (TCEB1) -mutant RCC harboring a novel somatic TCEB1 variant, c.227A>G (p.Y76C). Case presentation A 52-year-old male presented with an incidentally discovered left renal mass on routine ultrasound. Computed tomography (CT) revealed a round, slightly hypodense lesion, approximately 14×15 mm, in the left kidney. Following retroperitoneal laparoscopic partial nephrectomy, pathological examination and immunohistochemistry (IHC) established the diagnosis, and next-generation sequencing (NGS) identified a novel ELOC ( TCEB1 ) mutation, c.227A>G (p.Y76C). Conclusion We report a rare ELOC (TCEB1) ‐mutant RCC carrying one novel missense variant, c.227A>G (p.Y76C), and a frameshift variant, c.171_172insCC (p.N58Pfs*48), in trans. This case adds a newly identified TCEB1 variant to the known spectrum of ELOC -mutant RCC and may help clinicians recognize this rare subtype. We also review the clinicopathological features, immunophenotype, molecular genetic alterations, differential diagnosis, treatment, and prognosis of this entity.

Source: Frontiers in Oncology

DOI: 10.3389/fonc.2026.1989742