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Updated: Aug 17, 2026
Transmitochondrial Cybrid Generation Using Cancer Cell Lines
Published on: March 17, 2023
Renal cell carcinoma in a pediatric patient with an inherited mitochondrial mutation
Surasak Sangkhathat1, Takeshi Kusafuka, Akihiro Yoneda
1Department of Pediatric Surgery, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita, Osaka, 565-0871 Japan.
Abstract:
Renal cell carcinoma (RCC) is a rare pediatric renal cancer. Recent molecular genetic studies discovered a tumor-specific mutation involving translocation of a transcription factor TFE3 in a subset of pediatric RCC with distinct histopathology. We reported a case of a 2-year-old boy with RCC associated with TFE3 translocation resulting in a PRCC-TFE3 fusion gene. Interestingly, the case carried a maternally inherited mitochondrial DNA (mtDNA) alteration at the position which is usually found in MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes) syndrome (A3243G). Although evidence of somatic alterations in mtDNA existed in various cancers, association between inherited mtDNA mutation and pediatric renal cancer has not been reported. Our case provided the first evidence of a co-occurrence between a germ line mutation in mtDNA and the somatic mutation of pediatric RCC. With this information, we speculated a role of mitochondria mutation in the pathogenesis of this cancer.
Insights
This study reports a rare pediatric renal cell carcinoma (RCC) case with a TFE3 translocation and a maternally inherited mitochondrial DNA (mtDNA) mutation. This is the first evidence linking germline mtDNA mutations to pediatric kidney cancer.
Area of Science:
- Pediatric Oncology
- Molecular Genetics
- Mitochondrial Biology
Background:
- Renal cell carcinoma (RCC) is a rare pediatric cancer.
- Specific mutations, like TFE3 translocations, characterize a subset of pediatric RCC.
- Mitochondrial DNA (mtDNA) somatic alterations are known in various cancers.
Observation:
- A 2-year-old boy with pediatric RCC presented with a TFE3 translocation, forming a PRCC-TFE3 fusion gene.
- The patient also carried a maternally inherited mtDNA alteration (A3243G), typically associated with MELAS syndrome.
- This marks the first reported instance of co-occurrence between germline mtDNA mutation and pediatric RCC.
Findings:
- The study details a unique case of pediatric renal cell carcinoma (RCC).
- It highlights the presence of both a TFE3 gene translocation and a maternally inherited mitochondrial DNA (mtDNA) mutation (A3243G).
- This represents the first documented association between a germline mtDNA mutation and pediatric kidney cancer.
Implications:
- This case suggests a potential role for inherited mitochondrial DNA mutations in the development of pediatric renal cell carcinoma.
- It opens new avenues for research into the pathogenesis of pediatric kidney cancers.
- Understanding this link may inform future diagnostic or therapeutic strategies.
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