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A family case with germline TSC1 and mtDNA mutations developing bilateral eosinophilic chromophobe renal cell carcinomas without other typical phenotype of tuberous sclerosis
  1. Hiromasa Sakamoto1,
  2. Toshinari Yamasaki1,
  3. Takayuki Sumiyoshi1,
  4. Noriaki Utsunomiya1,
  5. Masashi Takeda1,
  6. Tomomi Kamba2,
  7. Eijiro Nakamura3,
  8. Osamu Ogawa1
  1. 1 Department of Urology, Kyoto University Graduate School of Medicine, Kyoto, Japan
  2. 2 Department of Urology, Kumamoto University Graduate School of Medicine, Kumamoto, Japan
  3. 3 Department of Laboratory for Malignancy Control Research/Medical Innovation Center, Kyoto University Graduate School of Medicine, Kyoto, Japan
  1. Correspondence to Professor Osamu Ogawa, Department of Urology, Kyoto University Graduate School of Medicine, Kyoto 606-8507, Japan; ogawao{at}


Aim We examined the genetic alterations in a mother and son with multiple eosinophilic chromophobe renal cell carcinomas (chRCCs) showing no other features.

Methods Germline DNA and bilateral renal cell carcinoma DNA were genetically analysed by whole-exome sequencing. Candidate gene alterations in the first patient’s germline were investigated in her child’s germline and the chRCCs.

Results We detected several germline gene alterations in the mother. Among the identified alterations, TSC1 and mitochondrial DNA mutations were also confirmed in her son. Regarding somatic alterations in bilateral chRCCs, no common candidate gene alteration was found.

Conclusion To the best of our knowledge, this is the first report of whole-exome sequencing revealing bilateral eosinophilic chRCCs associated with tuberous sclerosis complex in a family case without classical phenotype. These results suggest that germline TSC1 and mitochondrial DNA gene mutations may be involved in the development of chRCCs in some cases.

  • renal cancer
  • genitourinary pathology
  • cancer genetics

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  • Handling editor Runjan Chetty.

  • Contributors HS and TY designed the study, analysed the data and wrote the manuscript. HS, TS, NU and MT performed the experiments. TK, EN and OO contributed to the study design and critically revised the manuscript.

  • Funding This work was supported by the Grant-in-Aid for Scientific Research from the Ministry of Education, Culture, Sports, Science and Technology (no 24390367, no 26253078 and no 15H04973).

  • Competing interests None declared.

  • Patient consent Obtained.

  • Ethics approval The institutional review board of Kyoto University Hospital (approval number G504).

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data sharing statement Data are available on request and at the discretion of the authors.