Imaging-Based Molecular Characterization of Adult-Type Diffuse Glioma Using Diffusion and Perfusion MRI in Pre- and
Yun Hwa Roh1, E-Nae Cheong2, Ji Eun Park2
1Department of Radiology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Journal of Magnetic Resonance Imaging : JMRI
|April 8, 2025
Summary
Diffusion and perfusion MRI can accurately identify isocitrate dehydrogenase (IDH) mutations in gliomas. However, this imaging approach shows limited effectiveness for detecting epidermal growth factor receptor (EGFR) amplification, particularly in recurrent tumors.
Area of Science:
- Neuro-oncology
- Radiology
- Molecular Diagnostics
Background:
- Accurate molecular characterization of adult-type diffuse gliomas is crucial for selecting appropriate treatments.
- Imaging techniques offer a non-invasive method for assessing key molecular markers.
Purpose of the Study:
- To evaluate the utility of diffusion and perfusion MRI in determining isocitrate dehydrogenase (IDH) mutation and epidermal growth factor receptor (EGFR) amplification status.
- To investigate the impact of spatial and temporal heterogeneity on imaging-based molecular marker assessment in primary and recurrent gliomas.
Main Methods:
- Retrospective analysis of 312 newly diagnosed and 38 recurrent adult-type diffuse glioma patients.
- Extraction of radiomics features from apparent diffusion coefficient and perfusion maps of contrast-enhancing tumors and non-enhancing lesions.
- Development of predictive models for IDH and EGFR status using LASSO regression on cross-sectional and longitudinal imaging data.
Main Results:
- High diagnostic performance (AUC > 0.93) for IDH mutation status was achieved using both cross-sectional and longitudinal MRI data.
- The 'concordant model' using stable longitudinal features maintained strong IDH prediction in recurrent gliomas (AUC = 0.919).
- MRI demonstrated limited accuracy for EGFR amplification detection, especially in recurrent tumors (AUC < 0.52).
Conclusions:
- Diffusion and perfusion MRI are effective for characterizing IDH status in both newly diagnosed and recurrent gliomas.
- The diagnostic performance of MRI for EGFR amplification is suboptimal, particularly in the context of tumor recurrence.
- Imaging-based molecular profiling shows promise but requires further refinement for certain genetic alterations.


