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Diffusion and perfusion imaging biomarkers of H3 K27M mutation status in diffuse midline gliomas
Nihar Kathrani1, Richa Singh Chauhan2, Abhishek Kotwal2
1Interventional Radiology, Paras Hospital, Gurugram, Haryana, India.
Purpose:
H3K27M-mutant diffuse midline gliomas (M-DMGs) exhibit a clinically aggressive course. We studied diffusion-weighted imaging (DWI) and perfusion (PWI) MRI features of DMG with the hypothesis that DWI-PWI metrics can serve as biomarkers for the prediction of the H3K27M mutation status in DMGs.
Methods:
A retrospective review of the institutional database (imaging and histopathology) of patients with DMG (July 2016 to July 2020) was performed. Tumoral apparent diffusion coefficient (ADC) and peritumoral ADC (PT ADC) values and their normalized values (nADC and nPT ADC) were computed. Perfusion data were analyzed with manual arterial input function (AIF) and leakage correction (LC) Boxerman-Weiskoff models. Normalized maximum relative CBV (rCBV) was evaluated. Intergroup analysis of the imaging variables was done between M-DMGs and wild-type (WT-DMGs) groups.
Results:
Ninety-four cases (M-DMGs-n = 48 (51%) and WT-DMGs-n = 46(49%)) were included. Significantly lower PT ADC (mutant-1.1 ± 0.33, WT-1.23 ± 0.34; P = 0.033) and nPT ADC (mutant-1.64 ± 0.48, WT-1.83 ± 0.54; P = 0.040) were noted in the M-DMGs. The rCBV (mutant-25.17 ± 27.76, WT-13.73 ± 14.83; P = 0.018) and nrCBV (mutant-3.44 ± 2.16, WT-2.39 ± 1.25; P = 0.049) were significantly higher in the M-DMGs group. Among thalamic DMGs, the min ADC, PT ADC, and nADC and nPT ADC were lower in M-DMGs while nrCBV (corrected and uncorrected) was significantly higher. Receiver operator characteristic curve analysis demonstrated that PT ADC (cut-off-1.245), nPT ADC (cut-off-1.853), and nrCBV (cut-off-1.83) were significant independent predictors of H3K27M mutational status in DMGs.
Conclusion:
DWI and PWI features hold value in preoperative prediction of H3K27M-mutation status in DMGs.
Insights
Diffusion-weighted and perfusion MRI metrics can predict H3K27M mutation status in diffuse midline gliomas (DMGs). These imaging features, including peritumoral ADC and relative CBV, show significant differences between mutant and wild-type DMGs.
Area of Science:
- Neuro-oncology
- Radiology
- Molecular Pathology
Background:
- Diffuse midline gliomas (DMGs) are aggressive brain tumors.
- H3K27M mutation is a key driver in these aggressive tumors.
- Accurate preoperative prediction of mutation status is crucial for treatment planning.
Purpose of the Study:
- To investigate if diffusion-weighted imaging (DWI) and perfusion (PWI) MRI features can predict H3K27M mutation status in DMGs.
- To identify specific DWI-PWI metrics that serve as biomarkers for H3K27M mutation.
- To differentiate H3K27M-mutant DMGs (M-DMGs) from wild-type DMGs (WT-DMGs) using imaging.
Main Methods:
- Retrospective analysis of 94 DMG patient cases (July 2016-July 2020).
- Calculation of tumoral and peritumoral apparent diffusion coefficient (ADC) values and their normalized forms (nADC, nPT ADC).
- Analysis of perfusion data, including normalized maximum relative cerebral blood volume (rCBV), using established models.
Main Results:
- Significantly lower peritumoral ADC (PT ADC) and normalized PT ADC (nPT ADC) in M-DMGs compared to WT-DMGs.
- Significantly higher relative cerebral blood volume (rCBV) and normalized rCBV (nrCBV) in M-DMGs.
- PT ADC, nPT ADC, and nrCBV were identified as significant independent predictors of H3K27M mutational status via ROC analysis.
Conclusions:
- DWI and PWI MRI features are valuable for the preoperative prediction of H3K27M mutation status in DMGs.
- Specific imaging metrics can help differentiate M-DMGs from WT-DMGs.
- These findings support the use of advanced MRI techniques in guiding the clinical management of DMGs.
