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H3 K27M mutations are extremely rare in posterior fossa group A ependymoma

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Abstract

Background

Mutations in the tail of histone H3 (K27M) are frequently found in pediatric midline high-grade glioma’s but have rarely been reported in other malignancies. Recently, recurrent somatic nucleotide variants in histone H3 (H3 K27M) have been reported in group A posterior fossa ependymoma (EPN_PFA), an entity previously described to have no recurrent mutations. However, the true incidence of H3 K27M mutations in EPN_PFA is unknown.

Methods

In order to discern the frequency of K27M mutations in histone H3 in EPN_PFA, we analyzed 151 EPN_PFA previously profiled with genome-wide methylation arrays using a validated droplet digital PCR assay.

Results

We identified only 1 case out of 151 EPN_PFA harboring the K27M mutation indicating that histone mutations are extremely rare in EPN_PFA. Morphologically, this single mutated case is clearly consistent with an ependymoma, and the presence of the K27M mutation was confirmed using immunohistochemistry.

Discussion

K27M mutations are extremely rare in EPN_PFA. Routine evaluation of K27M mutations in EPN_PFA is of limited utility, and is unlikely to have any bearing on prognosis and/or future risk stratification.

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Acknowledgements

VR supported by grants from the Garron Family Cancer Center, Meagan’s Walk and the Collaborative Ependymoma Research Network. MZ supported by Garron Family Cancer Center Fellowship, Meagan’s Bebenek Fellowship in Pediatric Neuro-Oncology and Restracomp from Research Training Center at The Hospital for Sick Children. MDT is supported by funds from the Garron Family Chair in Childhood Cancer Research at The Hospital for Sick Children and The University of Toronto, and operating funds from the National Institutes of Health (R01CA159859 and R01CA148699), The Canadian Institutes of Health Research, and the Pediatric Brain Tumor Foundation.

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Authors and Affiliations

  1. Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada

    Scott Ryall, Michael D. Taylor & Cynthia Hawkins

  2. Pathology and Laboratory Medicine, Cardinal Glennon Children’s Hospital, Pathology Department, Saint Louis University, Saint Louis, MO, USA

    Miguel Guzman

  3. Department of Neurological Surgery, Saint Louis University School of Medicine, Saint Louis, MO, USA

    Samer K. Elbabaa

  4. Program in Developmental and Stem Cell Biology, Arthur and Sonia Labatt Brain Tumour Research Centre, Hospital for Sick Children, Toronto, ON, Canada

    Betty Luu, Michael D. Taylor & Cynthia Hawkins

  5. Cleveland Clinic Foundation, Cleveland, OH, USA

    Stephen C. Mack

  6. Division of Haematology/Oncology, Hospital for Sick Children, University of Toronto, 555 University Ave, Toronto, ON, M5G 1X8, Canada

    Michal Zapotocky & Vijay Ramaswamy

  7. Division of Neurosurgery, Hospital for Sick Children, Toronto, ON, Canada

    Michael D. Taylor

  8. Department of Pediatric Laboratory Medicine, Hospital for Sick Children, Toronto, ON, Canada

    Cynthia Hawkins

  9. Program in Neuroscience and Mental Health, Arthur and Sonia Labatt Brain Tumour Reserch Centre, Hospital for Sick Children, Toronto, ON, Canada

    Vijay Ramaswamy

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  1. Scott Ryall
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  2. Miguel Guzman
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  3. Samer K. Elbabaa
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Correspondence to Vijay Ramaswamy.

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Ryall, S., Guzman, M., Elbabaa, S.K. et al. H3 K27M mutations are extremely rare in posterior fossa group A ependymoma. Childs Nerv Syst 33, 1047–1051 (2017). https://doi.org/10.1007/s00381-017-3481-3

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