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
Department of Pediatrics, Texas Children's Cancer Center, Baylor College of Medicine, Houston, Texas.
Department of Pediatric, Division of Nephrology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas.
Pediatr Blood Cancer. 2017 May;64(5). doi: 10.1002/pbc.26286. Epub 2016 Oct 17.
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.
小儿肾细胞癌（RCC）是一种罕见的癌症，可与包括由TSC1或TSC2种系突变引起的结节性硬化症复合体（TSC）在内的遗传性疾病相关。TSC1和TSC2的体细胞突变在成人RCC中也有报道，这些突变可预测对mTOR抑制剂的反应。在此，我们报告了第一例患有甲基丙二酸血症（MMA）的儿童RCC病例。对血液和肿瘤样本进行的临床全外显子组测序确诊了MMA，并揭示了TSC2中的两个体细胞失活突变，提示在肿瘤复发时可能考虑使用mTOR抑制剂。
