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Diffusion and perfusion imaging biomarkers of H3 K27M mutation status in diffuse midline gliomas

  • Diagnostic Neuroradiology
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Abstract

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.

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Funding

No funding was received for conducting this study.

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Authors and Affiliations

Authors

Contributions

All authors contributed to the study conception and design. Material preparation, data collection, and analysis were performed by Richa Singh Chauhan, Karthik Kulanthaivelu, Abhishek Kotwal, and Maya Dattatraya Bhat. The first draft of the manuscript was written by Nihar Kathrani and Richa Singh Chauhan and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Maya Dattatraya Bhat.

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Conflicts of interest

The authors have no conflicts of interest to declare that are relevant to the content of this article.

Ethics approval

This retrospective study involving human participants was in accordance with the ethical standards of the institutional and national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. The Human Investigation Committee (IRB) of the National Institute of Mental Health and Neurosciences, Bengaluru, India, approved this study.

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Informed consent was waived off from participants owing to its retrospective nature.

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Patients consent was waived off owing to the retrospective nature of the study.

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Kathrani, N., Chauhan, R.S., Kotwal, A. et al. Diffusion and perfusion imaging biomarkers of H3 K27M mutation status in diffuse midline gliomas. Neuroradiology 64, 1519–1528 (2022). https://doi.org/10.1007/s00234-021-02857-x

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  • DOI: https://doi.org/10.1007/s00234-021-02857-x

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