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Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia |
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| Authors: | Samara L. Potter Rajkumar Venkatramani Scott Wenderfer Brett H. Graham Sanjeev A. Vasudevan Andrew Sher Hao Wu David A. Wheeler Yaping Yang Christine M. Eng Richard A. Gibbs Angshumoy Roy Sharon E. Plon D. Williams Parsons |
| Affiliation: | 1. Department of Pediatrics, Texas Children's Cancer Center, Baylor College of Medicine, Houston, Texas;2. Department of Pediatric, Division of Nephrology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas;3. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas;4. Department of Surgery, Texas Children's Hospital, Houston, Texas;5. Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, Texas;6. The Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, Texas;7. Department of Radiology, Baylor College of Medicine, Houston, Texas;8. Department of Pathology, Texas Children's Hospital, Houston, Texas;9. Department of Pathology and Immunology, Baylor College of Medicine, Houston, Texas;10. Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas |
| Abstract: | Pediatric renal cell carcinoma (RCC) is a rare cancer that can be associated with inherited diseases including tuberous sclerosis complex (TSC) caused by germline mutations in TSC1 or TSC2. Somatic mutations in TSC1 and TSC2 have also been reported in adult RCC, which predict response to mTOR inhibitors. Here, we present the first case of RCC in a child with methylmalonic acidemia (MMA). Clinical whole exome sequencing of blood and tumor samples confirmed the diagnosis of MMA and revealed two somatic inactivating mutations in TSC2, suggesting the potential consideration of an mTOR inhibitor in the event of tumor recurrence. |
| Keywords: | methylmalonic acidemia renal cell carcinoma TSC2 |