Investigating glioma genetics through perfusion MRI: rCBV and rCBF as predictive biomarkers

Brain tumors exhibit diverse genetic landscapes and hemodynamic properties, influencing diagnosis and treatment outcomes.

To explore the relationship between MRI perfusion metrics (rCBV, rCBF), genetic markers, and contrast enhancement patterns in gliomas, aiming to enhance diagnostic accuracy and inform personalized therapeutic strategies. Additionally, other radiological features, such as the T2/FLAIR mismatch sign, are evaluated for their predictive utility in IDH mutations.

Retrospective cohort study.

67 patients with brain tumors (including glioblastoma, astrocytoma, oligodendroglioma) undergoing surgical resection.

1.5 Tesla MRI, including T1 pre- and post-contrast, FLAIR, DWI, and DSC sequences.

Semiquantitative perfusion metrics (rCBV, rCBF) were evaluated against genetic markers (IDH1, EGFR, CDKN2A, PDGFRA, MGMT, TERT, 1p19q, PTEN, TP53, H3F3A) through advanced MRI techniques. Contrast enhancement was assessed, and genetic alterations were confirmed via histopathological and molecular analyses.

Chi-square test, sensitivity, specificity, and ROC analysis for predictive modeling; significance level set at p < 0.05.

Statistically significant differences in perfusion metrics were observed among tumors with distinct genetic profiles, with primary tumors and those harboring specific mutations (IDH1 wildtype, EGFR amplification, CDKN2A homozygous deletion, PDGFRA amplification) showing higher perfusion values. A cut-off value of <4 for rCBV in predicting IDH1 mutation yielded a sensitivity of 61.5 % and specificity of 82.1 %. For CDKN2A deletion, a cut-off of >5 resulted in a sensitivity of 75 % and specificity of 74.6 %, with an ROC value of 0.78.

Integrating perfusion MRI with genetic analysis offers a promising approach to improving the diagnostic and therapeutic landscape for brain tumors, indicating a substantial step toward personalized neuro-oncology. Additionally, findings like the T2/FLAIR mismatch sign highlight the potential for preoperative molecular predictions when biopsy is not feasible. These findings support further validation in larger, multi-institutional studies to solidify their role in clinical practice.

Integrating perfusion MRI with genetic analysis offers a promising approach to improving the diagnostic and therapeutic landscape for brain tumors, indicating a substantial step toward personalized neuro-oncology. These findings support further validation in larger, multi-institutional studies to solidify their role in clinical practice.