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Weighing ependymoma as an epigenetic disease

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Abstract

Introduction

Ependymoma is the third most common malignant pediatric brain tumor. Although the biology that drives ependymoma is slowly being unraveled, the ability to translate these findings to clinical care remains an ongoing challenge. Epigenetic alterations appear to play a central role in the development of molecular classification of ependymoma.

Methods

We reviewed the published literature available describing genetic and epigenetic underpinnings of ependymoma that have been reported to date and have summarized the information regarding genetic drivers of ependymoma that may point us toward therapeutic strategies.

Results

Ependymoma is a molecularly heterogeneous disease which has now been divided into at least nine distinct molecular subtypes based on DNA methylation and gene expression profiling. DNA methylation has emerged as an effective tool for classification of brain tumors alongside histopathology and other molecular diagnostics. There have been large retrospective cohorts describing molecular subgroup identity as a powerful independent predictor of outcome. There is limited published data on prospective trials to date however this is forthcoming which will lead to molecular stratification in the next generation of clinical studies.

Conclusion

This is a review of recent advancements in our understanding of the epigenetic basis of ependymoma and discussion of how these findings reveal potential therapeutic opportunities.

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Acknowledgements

S.C.M. is supported by a Cancer Prevention Research Institute of Texas (CPRIT) scholar award (RR170023), an Alex s Lemonade Stand Foundation (ALSF) A award and Young Investigator award, a Pediatric Brain Tumor Foundation award, a Chad Tough Young Investigator award, a Cookies for Cancer research grant, a RALLY research grant, a BEAR Necessities Pediatric Cancer Foundation grant, a Children's Cancer Research Fund award, a Children's Brain Tumor Foundation award, and a Baylor College of Medicine Junior Faculty award.

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Authors and Affiliations

  1. Baylor College of Medicine, Texas Children’s Cancer and Hematology Centers, Houston, TX, USA

    A. Stuckert, K. C. Bertrand & S. C. Mack

  2. Rice University, 6100 Main St, Houston, TX, 77005, USA

    P. Wang

  3. Department of Pediatric Hematology-Oncology, Arnold Palmer Hospital, Orlando, USA

    A. Smith

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  1. A. Stuckert
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  2. K. C. Bertrand
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  3. P. Wang
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  4. A. Smith
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  5. S. C. Mack
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Contributions

All authors contributed to the review conception and design. Material preparation, literature search, and data analysis was performed by AS, KB, PW, AS, and SM. The first draft of the manuscript was written by AS, KB, and PW and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

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Correspondence to A. Smith or S. C. Mack.

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Stuckert, A., Bertrand, K.C., Wang, P. et al. Weighing ependymoma as an epigenetic disease. J Neurooncol 150, 57–61 (2020). https://doi.org/10.1007/s11060-020-03562-0

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  • DOI: https://doi.org/10.1007/s11060-020-03562-0

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