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Rare disease
Case report
Prolonged survival in a patient with a cervical spine H3K27M-mutant diffuse midline glioma
  1. Kelsey Peters1,
  2. Drew Pratt2,
  3. Carl Koschmann3 and
  4. Denise Leung1
  1. 1 Neurology, University of Michigan, Ann Arbor, Michigan, USA
  2. 2 Pathology, University of Michigan, Ann Arbor, Michigan, USA
  3. 3 Paediatrics, University of Michigan, Ann Arbor, Michigan, USA
  1. Correspondence to Dr Denise Leung; ledenise{at}umich.edu

Abstract

We report a case of prolonged survival in a patient with known cervical intramedullary H3K27M-mutant diffuse midline glioma. A 39-year-old man presented for evaluation with several months of progressive upper extremity pain and weakness. MRI of the cervical spine revealed an intramedullary ring-enhancing lesion centred at C3-C4. Following subtotal surgical resection, a diagnosis of glioblastoma (GBM) was confirmed. Subsequent testing at a later date revealed an H3K27M mutation. He was initially treated with radiation and concomitant and adjuvant temozolomide. He had multiply recurrent disease and was treated with various regimens, including the histone deacetylase inhibitor valproic acid. The patient passed away 31 months (~2.5 years) after diagnosis. Our case is one of few reported adult spinal cord GBMs possessing the H3K27M mutation, and one with the longest reported overall survival in the literature to date.

  • cancer intervention
  • genetics
  • neuro-oncology
  • spinal cord
  • CNS cancer

https://doi.org/10.1136/bcr-2019-231424

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    Footnotes

    • Twitter @DeniseLeungMD

    • Contributors KP: substantial contributions to the design of the work, drafting the work. CK, DP: substantial contributions to the analysis and interpretation of data, revising it critically for important intellectual content. DL: substantial contributions to the conception or design of the work, the acquisition, analysis and interpretation of data, drafting the work, revising it critically for important intellectual content. All authors gave final approval of the version published and agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent for publication Next of kin consent obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.