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Novel TCEB1 variants identified in a case of renal cell carcinoma via NGS and IHCSingle Case Ties Rare TCEB1 Mutation to Kidney Cancer

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Key Takeaway
Note that TCEB1 mutations may represent a rare ELOC-mutant subtype of renal cell carcinoma.

This case report and literature review describes the identification of novel somatic TCEB1 variants in a 52-year-old male with a left renal mass. The study utilized next-generation sequencing (NGS) and immunohistochemistry (IHC) to characterize the molecular landscape of the tumor.

The authors identified two specific variants in trans: a somatic TCEB1 variant c.227A>G (p.Y76C) and a frameshift variant c.171_172insCC (p.N58Pfs*48). These findings contribute to the understanding of the immunophenotype and molecular genetic alterations associated with this specific renal cell carcinoma subtype.

A primary limitation of this evidence is the small sample size, as it is based on a single case report. Consequently, the findings are not sufficient to establish broad clinical trends or definitive prognostic correlations. However, the report may assist clinicians in recognizing the rare ELOC (TCEB1)-mutant renal cell carcinoma subtype during the differential diagnosis of renal masses.

How this fits prior evidence

This case report identifies a rare ELOC (TCEB1)-mutant renal cell carcinoma subtype. While it does not directly relate to the reported findings regarding surgical techniques like sutureless renorrhaphy or the use of Hugo RAS, it addresses a gap in the molecular characterization of renal cell carcinoma. It provides a specific molecular profile for a rare variant, distinct from the clinical outcomes of therapies like pazopanib or axitinib.

A new case report describes a 52-year-old man with a tumor in his left kidney. Doctors used genetic sequencing and tissue tests to look closely at the cancer. They found a TCEB1 gene mutation that had not been reported before, along with another change in the same gene.

The report also reviews what is known about kidney cancers with TCEB1 mutations. These tumors are rare and can look like other types of kidney cancer under the microscope. Recognizing them may help doctors make the right diagnosis.

This is a single case, so it cannot show how common these mutations are, whether they affect outcomes, or how best to treat them. No safety information or follow-up was reported. The main value is to raise awareness of this rare subtype among pathologists and oncologists.

For patients, this does not change standard care today. It is a reminder that genetic testing can sometimes reveal unusual cancer features. Anyone with questions about their own kidney cancer should talk with their doctor.

What this means for you:
A single case report describes a new TCEB1 mutation in kidney cancer, which may help doctors recognize a rare subtype.

Common questions

What is a TCEB1 mutation in kidney cancer?

TCEB1 is a gene that can be altered in some kidney cancers. This case report found a new TCEB1 variant, c.227A>G (p.Y76C), plus another change, c.171_172insCC (p.N58Pfs*48), in a 52-year-old man's tumor. These mutations are rare and can make the cancer look different under the microscope.

How common is this kidney cancer subtype?

The report does not say how common TCEB1-mutant kidney cancer is. It is described as a rare subtype. Because this is a single case report, it cannot show how often these mutations occur in people with kidney cancer. Larger studies are needed to understand the frequency.

Does this finding change treatment for kidney cancer?

Not directly. This is a single case report, not a clinical trial. It may help doctors recognize the rare ELOC (TCEB1)-mutant kidney cancer subtype, but it does not provide evidence that treatment should change. Patients should discuss their treatment with their doctor.

What are the limitations of this report?

The main limitation is that it describes only one patient. A single case cannot show cause and effect, how common the mutation is, or how it affects prognosis. No follow-up or safety data were reported. The findings need to be confirmed in larger studies.

Study Details

Study typeSystematic review
EvidenceLevel 1
PublishedOct 2026
View Original Abstract ↓
BackgroundELOC (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 presentationA 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).ConclusionWe 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.
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