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Updated: Dec 1, 2025
Live-3D-Cell Immunocytochemistry Assays of Pediatric Diffuse Midline Glioma
Published on: November 11, 2021
Radiologic findings and the molecular expression profile of diffuse midline glioma H3 K27M mutant
Minjung Seong1, Sung Tae Kim1, Jung Hyun Noh1
1Department of Radiology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Background:
Diffuse midline glioma H3 K27M-mutant (DMG) are reported to show heterogeneous radiologic imaging features in children. We hypothesized that other genetic mutations may contribute to this heterogeneity.
Purpose:
To describe the magnetic resonance imaging (MRI) findings of DMG in adult patients and to correlate the imaging findings with the molecular expression profile.
Material And Methods:
Eighteen patients with pathologically proven DMG were enrolled. On preoperative MRI, the following were evaluated: location; size of the lesion; ratio of non-enhancing (NE) and contrast-enhancing (CE) area; presence of cortical invasion and necrotic component; maximum relative cerebral blood volume ratio (rCBV ratio) of NE and CE portions; and minimum apparent diffusion coefficient (ADC) of NE and CE portions, among others. Molecular profiles including ATRX expression and p53 mutation were reviewed to find correlation with imaging features.
Results:
Thalamus was the most commonly involved location, followed by pons and tectum. Five patients showed loss of normal ATRX expression. p53 mutation was positive in 12 patients. 40% of normal ATRX expression patients had cortical involvement and 20% had leptomeningeal seeding; none of the patients with ATRX loss had cortical involvement or leptomeningeal seeding. Patients with normal ATRX expression showed significantly higher rCBV ratio and lower ADC value in the NE area than patients with ATRX loss (P=0.04, 0.016). p53 mutation status did not correlate with any imaging finding.
Conclusion:
Cortical invasion, leptomeningeal tumor spread, lower ADC value and higher rCBV ratio in NE areas of DMG may be related to normal expression of ATRX.
Insights
Normal ATRX expression in diffuse midline glioma (DMG) correlates with imaging features like cortical invasion and leptomeningeal spread. These findings may help differentiate DMG subtypes in adults.
Area of Science:
- Neuro-oncology
- Radiology
- Molecular Pathology
Background:
- Diffuse midline glioma H3 K27M-mutant (DMG) exhibit diverse imaging characteristics in pediatric patients.
- Genetic mutations may underlie the observed heterogeneity in DMG imaging features.
Purpose of the Study:
- To characterize the MRI findings of adult DMG.
- To correlate these imaging findings with molecular expression profiles, specifically ATRX and p53.
Main Methods:
- Preoperative MRI analysis of 18 adult DMG patients.
- Evaluation of lesion location, size, enhancement patterns (NE/CE), cortical invasion, necrosis, rCBV ratio, and ADC values.
- Review of ATRX expression and p53 mutation status.
Main Results:
- Thalamus, pons, and tectum were common locations.
- Five patients had loss of ATRX expression; 12 had p53 mutations.
- Normal ATRX expression was linked to cortical invasion (40%) and leptomeningeal seeding (20%).
- Patients with normal ATRX expression showed higher rCBV and lower ADC in non-enhancing areas compared to those with ATRX loss (P=0.04, 0.016).
- p53 mutation status did not correlate with imaging findings.
Conclusions:
- Cortical invasion, leptomeningeal spread, lower ADC, and higher rCBV in non-enhancing areas of DMG may be associated with normal ATRX expression.
- These imaging-biomarker correlations can aid in understanding DMG heterogeneity in adults.
