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Prediction of H3K27M mutation status of diffuse midline gliomas using MRI features
Richa Singh Chauhan1, Karthik Kulanthaivelu1, Nihar Kathrani2
1Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India.
Background And Purpose:
Presurgical prediction of H3K27M mutation in diffuse midline gliomas (DMGs) on MRI is desirable. The purpose of this study is to elaborate conventional MRI (cMRI) features of H3K27M-mutant DMGs and identify features that could discriminate them from wild-type (WT) DMGs.
Methods:
CMRI features of 123 patients with DMG were evaluated conforming to the institutional research protocols. Multimodality MRI was performed on 1.5 or 3.0 Tesla MR Scanners with imaging protocol, including T1-weighted (w), T2w, fluid-attenuated inversion recovery, diffusion-weighted, susceptibility-weighted, and postcontrast T1w sequences. Pertinent cMRI features were annotated along the lines of Visually AcceSAble Rembrandt Images features, and Intra Tumoral Susceptibility Signal score (ITSS) was evaluated. R software was used for statistical analysis.
Results:
Sixty-one DMGs were H3K27M-mutant (mutant DMGs). The patients in the H3K27M-mutant DMG group were younger compared to the WT-DMG group (mean age 24.13 ± 13.13 years vs. 35.79±18.74 years) (p = 0.016). The two groups differed on five cMRI features--(1) enhancement quality (p = 0.032), (2) thickness of enhancing margin (p = 0.05), (3) proportion of edema (p = 0.002), (4) definition of noncontrast-enhancing tumor (NCET) margin (p = 0.001), and (5) cortical invasion (p = 0.037). The mutant DMGs showed greater enhancement and greater thickness of enhancing margin, while the WT DMGs exhibited significantly larger edema proportion with poorly defined NCET margins and cortical invasion. ITSS was not significantly different among the groups.
Conclusion:
CMRI features like enhancement quality, the thickness of the enhancing margin, proportion of edema, definition of NCET margin, and cortical invasion can discriminate between the H3K27M-mutant and WT DMGs.
Insights
Conventional MRI features can predict H3K27M mutations in diffuse midline gliomas (DMGs). Key imaging findings differentiate mutant DMGs from wild-type (WT) DMGs, aiding presurgical diagnosis.
Area of Science:
- Neuroradiology
- Oncology
- Molecular Pathology
Background:
- Diffuse midline gliomas (DMGs) are aggressive brain tumors.
- Accurate presurgical identification of H3K27M mutation status is crucial for treatment planning.
- Conventional MRI (cMRI) features are being investigated for their predictive value.
Purpose of the Study:
- To identify and elaborate on cMRI features of H3K27M-mutant DMGs.
- To differentiate H3K27M-mutant DMGs from wild-type (WT) DMGs using cMRI.
- To establish MRI-based biomarkers for H3K27M mutation status.
Main Methods:
- Evaluation of cMRI features in 123 patients with DMG.
- Utilized multimodality MRI including T1w, T2w, FLAIR, DWI, SWI, and postcontrast T1w sequences.
- Annotated features using Visually AcceSAble Rembrandt Images (VISCARIA) and calculated Intra Tumoral Susceptibility Signal (ITSS).
Main Results:
- H3K27M-mutant DMGs occurred in younger patients (mean age 24.13 years) compared to WT DMGs (mean age 35.79 years).
- Significant differences in enhancement quality, enhancing margin thickness, edema proportion, non-contrast-enhancing tumor (NCET) margin definition, and cortical invasion were observed.
- Mutant DMGs showed greater enhancement and thicker margins, while WT DMGs had larger edema and poorly defined NCET margins with cortical invasion.
Conclusions:
- Specific cMRI features can effectively discriminate between H3K27M-mutant and WT DMGs.
- Enhancement characteristics, edema, NCET margin definition, and cortical invasion are key discriminators.
- These findings support the use of cMRI for presurgical prediction of H3K27M mutation status in DMGs.
