Genetic syndromes predisposing to pediatric brain tumors Review

   


Authors: Farouk Sait, S.; Walsh, M. F.; Karajannis, M. A.
Review Title: Genetic syndromes predisposing to pediatric brain tumors
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. © 2021 The Author(s) 2021. Published by Oxford University Press on behalf of the Society for Neuro-Oncology and the European Association of Neuro-Oncology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.
Keywords: genetic predisposition; pediatric brain tumors; genetic syndromes
Journal Title: Neuro-Oncology Practice
Volume: 8
Issue: 4
ISSN: 2054-2577
Publisher: Oxford University Press  
Date Published: 2021-08-01
Start Page: 375
End Page: 390
Language: English
DOI: 10.1093/nop/npab012
PROVIDER: scopus
PMCID: PMC8278355
PUBMED: 34277017
DOI/URL:

https://www.scopus.com/inward/record.uri?eid=2-s2.0-85111807528&doi=10.1093%2fnop%2fnpab012&partnerID=40&md5=2e3034977af3366c29c56e920e3a5d87
Notes: Review -- Export Date: 1 September 2021 -- Source: Scopus
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MSK Authors
  1. Matthias Angelos Karajannis
    141 Karajannis
  2. Michael Francis Walsh
    156 Walsh
  3. Sameer Farouk Sait
    66 Farouk Sait
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