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Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia
Author(s) -
Potter Samara L.,
Venkatramani Rajkumar,
Wenderfer Scott,
Graham Brett H.,
Vasudevan Sanjeev A.,
Sher Andrew,
Wu Hao,
Wheeler David A.,
Yang Yaping,
Eng Christine M.,
Gibbs Richard A.,
Roy Angshumoy,
Plon Sharon E.,
Parsons D. Williams
Publication year - 2017
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.26286
Subject(s) - tsc1 , tuberous sclerosis , tsc2 , medicine , somatic cell , methylmalonic acidemia , renal cell carcinoma , germline mutation , exome sequencing , cancer research , germline , methylmalonic acid , pi3k/akt/mtor pathway , mutation , oncology , pathology , genetics , biology , gene , apoptosis , homocysteine
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.