{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T23:02:11Z","timestamp":1790550131034,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,10,17]],"date-time":"2016-10-17T00:00:00Z","timestamp":1476662400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"National Human Genome Research Institute and National Cancer Institute","award":["1U01HG006485"],"award-info":[{"award-number":["1U01HG006485"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2017,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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 <jats:italic>TSC1<\/jats:italic> or <jats:italic>TSC2<\/jats:italic>. Somatic mutations in <jats:italic>TSC1<\/jats:italic> and <jats:italic>TSC2<\/jats:italic> 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 <jats:italic>TSC2<\/jats:italic>, suggesting the potential consideration of an mTOR inhibitor in the event of tumor recurrence.<\/jats:p>","DOI":"10.1002\/pbc.26286","type":"journal-article","created":{"date-parts":[[2016,10,17]],"date-time":"2016-10-17T05:51:12Z","timestamp":1476683472000},"source":"Crossref","is-referenced-by-count":12,"title":["Renal cell carcinoma harboring somatic <i>TSC2<\/i> mutations in a child with methylmalonic acidemia"],"prefix":"10.1002","volume":"64","author":[{"given":"Samara L.","family":"Potter","sequence":"first","affiliation":[{"name":"Department of Pediatrics Texas Children's Cancer Center Baylor College of Medicine  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajkumar","family":"Venkatramani","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Texas Children's Cancer Center Baylor College of Medicine  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott","family":"Wenderfer","sequence":"additional","affiliation":[{"name":"Department of Pediatric, Division of Nephrology Texas Children's Hospital Baylor College of Medicine  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brett H.","family":"Graham","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanjeev A.","family":"Vasudevan","sequence":"additional","affiliation":[{"name":"Department of Surgery Texas Children's Hospital  Houston Texas"},{"name":"Michael E. DeBakey Department of Surgery Baylor College of Medicine  Houston Texas"},{"name":"The Dan L. Duncan Cancer Center Baylor College of Medicine  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Sher","sequence":"additional","affiliation":[{"name":"Department of Radiology Baylor College of Medicine  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hao","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Pathology Texas Children's Hospital  Houston Texas"},{"name":"Department of Pathology and Immunology Baylor College of Medicine  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Wheeler","sequence":"additional","affiliation":[{"name":"The Dan L. Duncan Cancer Center Baylor College of Medicine  Houston Texas"},{"name":"Human Genome Sequencing Center Baylor College of Medicine  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaping","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine M.","family":"Eng","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard A.","family":"Gibbs","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"},{"name":"The Dan L. 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