Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia

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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Article numbere26286
JournalPediatric Blood and Cancer
Volume64
Issue number5
DOIs
StatePublished - May 1 2017

Keywords

  • TSC2
  • methylmalonic acidemia
  • renal cell carcinoma

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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