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Published on: December 27, 2024
Clinicoradiological characteristics of primary spinal cord H3 K27M-mutant diffuse midline glioma
Lei Cheng1, Leiming Wang2, Qingyu Yao1
11Department of Neurosurgery, Xuanwu Hospital, China International Neuroscience Institute, Capital Medical University, Beijing; and.
Objective:
Primary spinal cord H3 K27M-mutant diffuse midline glioma (DMG) is a rare and devastating pathological entity. However, little attention has been paid to this disease. As a result, its clinicoradiological characteristics have yet to be described. The aim of this study was to describe the clinicoradiological characteristics of primary intramedullary H3 K27M-mutant DMG and to compare this tumor with the H3 K27 wild-type to explore potential features that could differentiate the two.
Methods:
A total of 59 patients with pathologically confirmed intramedullary astrocytoma were included in this study. The cohort was divided into an H3 K27M-mutant group and H3 K27 wild-type group based on the status of H3 K27M according to an immunohistochemistry method. Demographic data, MRI features, and molecular information were collected. Multivariate logistic regression was conducted to investigate variables that might have a role in differentiating an H3 K27M DMG from an H3 K27 wild-type tumor.
Results:
Only symptom duration showed an independent association with the H3 K27M mutation (OR 0.82, 95% CI 0.68-0.94, p = 0.016). Patients with spinal cord H3 K27M-mutant DMG had a shorter symptom duration than patients with H3 K27 wild-type glioma. No significant difference was found in terms of MRI features between the H3 K27M-mutant and H3 K27 wild-type groups. Additionally, H3 K27M-mutant DMG frequently demonstrated overexpression of p53. Survival outcome did not show a statistical difference between the H3 K27-mutant subgroup and H3 K27 wild-type subgroup in histologically high-grade astrocytoma.
Conclusions:
Symptom duration was associated with an H3 K27M mutation in intramedullary astrocytoma. MRI features were heterogeneous, and no imaging feature was able to predict the H3 K27M mutation. The H3 K27M mutation did not impact survival outcome in spinal histologically high-grade astrocytoma.
Insights
Shorter symptom duration is linked to spinal cord H3 K27M-mutant diffuse midline glioma (DMG). MRI features do not reliably differentiate H3 K27M-mutant DMG from wild-type tumors.
Area of Science:
- Neuro-oncology
- Molecular Pathology
- Radiology
Background:
- Primary spinal cord diffuse midline glioma (DMG) with H3 K27M mutation is rare and poorly understood.
- Clinicoradiological characteristics of this entity remain undescribed.
Purpose of the Study:
- To delineate the clinicoradiological features of primary intramedullary H3 K27M-mutant DMG.
- To compare H3 K27M-mutant DMG with H3 K27 wild-type tumors to identify differentiating features.
Main Methods:
- Retrospective analysis of 59 patients with pathologically confirmed intramedullary astrocytoma.
- Classification into H3 K27M-mutant and H3 K27 wild-type groups via immunohistochemistry.
- Multivariate logistic regression to identify predictive variables.
Main Results:
- Shorter symptom duration was independently associated with H3 K27M mutation (OR 0.82, p=0.016).
- No significant differences in MRI features were observed between the mutant and wild-type groups.
- H3 K27M-mutant DMG frequently showed p53 overexpression; survival outcomes were similar for both groups in high-grade astrocytomas.
Conclusions:
- Symptom duration is a potential differentiator for intramedullary astrocytomas with H3 K27M mutation.
- No specific MRI features reliably predict H3 K27M mutation status.
- H3 K27M mutation status does not appear to influence survival in spinal high-grade astrocytomas.

