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- W3131102023 startingPage "375" @default.
- W3131102023 abstract "Abstract The application of high-throughput sequencing approaches including paired tumor/normal sampling with therapeutic intent has demonstrated that 8%-19% of pediatric CNS tumor patients harbor a germline alteration in a classical tumor predisposition gene (NF1, P53). In addition, large-scale germline sequencing studies in unselected cohorts of pediatric neuro-oncology patients have demonstrated novel candidate tumor predisposition genes (ELP1 alterations in sonic hedgehog medulloblastoma). Therefore, the possibility of an underlying tumor predisposition syndrome (TPS) should be considered in all pediatric patients diagnosed with a CNS tumor which carries critical implications including accurate prognostication, selection of optimal therapy, screening, risk reduction, and family planning. The Pediatric Cancer Working Group of the American Association for Cancer Research (AACR) recently published consensus screening recommendations for children with the most common TPS. In this review, we provide an overview of the most relevant as well as recently identified TPS associated with the most frequently encountered pediatric CNS tumors with an emphasis on pathogenesis, genetic testing, clinical features, and treatment implications." @default.
- W3131102023 created "2021-03-01" @default.
- W3131102023 creator A5007528270 @default.
- W3131102023 creator A5029101674 @default.
- W3131102023 creator A5037064380 @default.
- W3131102023 date "2021-02-13" @default.
- W3131102023 modified "2023-09-27" @default.
- W3131102023 title "Genetic syndromes predisposing to pediatric brain tumors" @default.
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