J Korean Soc Radiol.  2017 Dec;77(6):416-420. 10.3348/jksr.2017.77.6.416.

Diffuse Midline Gliomas Harboring the H3 K27M-Mutation in the Bilateral Thalamus and Midbrain: A Case Report and a Review of the Literature

• Kim IK
• Kim JW
• Hwang YJ
• Lee BH
• Seo JW

• KMID: 2396501
• DOI: http://doi.org/10.3348/jksr.2017.77.6.416

Abstract

The diffuse midline glioma H3 K27M-mutant was only added recently to the World Health Organization (WHO) Classification of Tumours of the Central Nervous System. While similar tumors are found in the midline, this particular mutation represents the majority of diffuse gliomas in the brainstem. Classified by WHO as grade IV tumors, these are aggressive and bear a poor prognosis for the patient. This report describes a case involving a 37-year-old woman with a histologically confirmed diffuse midline glioma H3 K27M-mutant in the bilateral thalamus and midbrain. The following discussion describes typical characteristics observed with computed tomography and magnetic resonance imaging. Given the rarity of diffuse intrinsic pontine gliomas in adults and the general lack of studies investigating this poorly understood entity, we report critical findings for contribution to the existing scarce literature on the topic.

MeSH Terms

Adult
Brain Stem
Brain Stem Neoplasms
Central Nervous System
Classification
Female
Glioma*
Humans
Magnetic Resonance Imaging
Mesencephalon*
Prognosis
Thalamus*
World Health Organization

Figure

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  Fig. 1 Diffuse midline glioma, H3 K27M-mutant in the bilateral thalamus and midbrain in a 37-year-old woman, presenting with dizziness. A. Axial non-enhanced computed tomography scan revealing an ill-defined hyper-attenuated mass in the right thalamus. B. (a) Axial pre-contrast T1WI revealing a homogeneously hypointense lesion in the right thalamus. (b) Axial T2WI demonstrating a hyperintense lesion in the bilateral thalamus. (c) Axial FLAIR image revealing a hyperintense lesion in the bilateral thalamus. (d) Axial post-contrast T1WI revealing a focal irregular enhancement in the right thalamus. (e) CBV parameter map revealing an increased signal in the right thalamus. (f) MR spectroscopy: an increased choline peak and a markedly decreased N-acetylaspartate peak are apparent in the right thalamus. CBV = cerebral blood volume, FLAIR = fluid-attenuated inversion recovery, MR = magnetic resonance, T1WI = T1-weighted image, T2WI = T2-weighted image C. Photomicrograph: (a) hematoxylin and eosin stain, demonstrating dense cellularity and occasional nuclear atypia. (b) Immunohistochemistry for histone H3 K27M-mutant protein revealing the nuclei of a majority of tumor cells (brown stain) with only few normal, residual cells (blue) (original magnification × 200).

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