Pediatric High-Grade Glioma: Role of Microsatellite Instability

  • Marta Viana-Pereira
  • Chris Jones
  • Rui Manuel ReisEmail author
Part of the Pediatric Cancer book series (PECA, volume 3)


Microsatellite instability (MSI) frequency in pediatric high-grade glioma remains a controversial research topic, and there is lack of clarity in the literature. Overall, it has been shown that MSI-positivity in adult high-grade glioma is a rare event, whereas in pediatric tumors reported frequencies are highly variable, probably due to the lack of consistency in the screening strategies. Furthermore, in contrast to colorectal MSI-positive tumors that harbor Type B MSI, high-grade gliomas have been reported as presenting Type A MSI, increasing the difficulty of an accurate analysis. In this chapter, we will review the type of MSI mostly found in pediatric high-grade gliomas and the distinct approaches to detect it, the role of the mismatch repair system (MMR) in these tumors, as well as the relation of MSI with other genomic abnormalities and the frequency of MSI target genes mutations.


Familial Adenomatous Polyposis Lynch Syndrome International Human Genome Sequencing Consortium Turcot Syndrome Pediatric Glioma 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer Science+Business Media Dordrecht 2012

Authors and Affiliations

  • Marta Viana-Pereira
    • 1
  • Chris Jones
    • 2
  • Rui Manuel Reis
    • 3
    Email author
  1. 1.Life and Health Sciences Research Institute (ICVS), School of Health SciencesUniversity of MinhoBragaPortugal
  2. 2.Section of Paediatric OncologyInstitute of Cancer ResearchSutton, SurreyUK
  3. 3.Molecular Oncology Research CenterBarretos Cancer HospitalBarretosBrazil

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