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The Role of Molecular Genetics of Glioblastoma in the Clinical Setting

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Precision Molecular Pathology of Glioblastoma

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Abstract

The rapid evolving knowledge of glioblastoma molecular biomarkers and their association to prognosis and treatment calls for clinicians to keep abreast of the latest literature on the recommendations that have an impact on clinical practice. The presence or absence of IDH mutations and MGMT methylation continue to be essential molecular markers that indicate prognosis and response to treatment. New emerging data on the presence of other alterations such as TERT promoter mutation, EGFR amplification, and/or the combination of gain of entire chromosome 7 and loss of entire chromosome 10 (+7/−10) in the case of IDH-wildtype astrocytomas and the presence of CDKN2A/B in IDH-mutant astrocytomas have become significant as these mutations are associated with more aggressive tumor behavior. Other mutations such as EGFRvIII expression, FGFR-TACC gene fusions, PTEN deletion, PDGFRA and BRAF V 600E have elucidated important pathways for targeted therapies and aid in prognosis assessment.

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Authors and Affiliations

  1. Department of Neurology and Sylvester Comprehensive Cancer Center, University of Miami, Miami, FL, USA

    Maria del Pilar Guillermo Prieto & Macarena Ines de La Fuente

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  1. Maria del Pilar Guillermo Prieto
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  2. Macarena Ines de La Fuente
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Correspondence to Macarena Ines de La Fuente .

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  1. Neuropathology, The Ohio State University, Columbus, OH, USA

    José Javier Otero

  2. Radiation Oncology, The Ohio State University, Columbus, OH, USA

    Aline Paixao Becker

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del Pilar Guillermo Prieto, M., de La Fuente, M.I. (2021). The Role of Molecular Genetics of Glioblastoma in the Clinical Setting. In: Otero, J.J., Becker, A.P. (eds) Precision Molecular Pathology of Glioblastoma. Molecular Pathology Library. Springer, Cham. https://doi.org/10.1007/978-3-030-69170-7_2

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