Śledzińska-Bebyn Paulina, Furtak Jacek, Bebyn Marek, Bartoszewska-Kubiak Alicja, Serafin Zbigniew
Department of Radiology, 10th Military Research Hospital and Polyclinic, 85-681 Bydgoszcz, Poland.
Department of Clinical Medicine, Faculty of Medicine, University of Science and Technology, Bydgoszcz, Poland; Department of Neurosurgery, 10th Military Research Hospital and Polyclinic, 85-681 Bydgoszcz, Poland.
Magn Reson Imaging. 2025 Apr;117:110318. doi: 10.1016/j.mri.2024.110318. Epub 2024 Dec 29.
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.
脑肿瘤呈现出多样的基因图谱和血流动力学特性，影响着诊断和治疗结果。
探讨胶质瘤中MRI灌注指标（相对脑血容量[rCBV]、相对脑血流量[rCBF]）、基因标志物与对比增强模式之间的关系，旨在提高诊断准确性并为个性化治疗策略提供依据。此外，还评估了其他放射学特征，如T2/液体衰减反转恢复序列（FLAIR）不匹配征，以确定其在异柠檬酸脱氢酶（IDH）突变中的预测效用。
回顾性队列研究。
67例接受手术切除的脑肿瘤患者（包括胶质母细胞瘤、星形细胞瘤、少突胶质细胞瘤）。
1.5特斯拉MRI，包括T1加权像对比剂注射前后、FLAIR序列、扩散加权成像（DWI）和动态磁敏感对比增强灌注成像（DSC）序列。
通过先进的MRI技术，将半定量灌注指标（rCBV、rCBF）与基因标志物（IDH1、表皮生长因子受体[EGFR]、细胞周期蛋白依赖性激酶抑制剂2A[CDKN2A]、血小板衍生生长因子受体A[PDGFRA]、O6-甲基鸟嘌呤-DNA甲基转移酶[MGMT]、端粒酶逆转录酶[TERT]、1号染色体短臂1区9带[1p19q]、第10号染色体缺失的磷酸酶及张力蛋白同源物[PTEN]、肿瘤蛋白p53[TP53]、组蛋白H3第3A变异体[H3F3A]）进行评估。评估对比增强情况，并通过组织病理学和分子分析确认基因改变。
采用卡方检验、敏感性、特异性及用于预测模型的ROC分析；显著性水平设定为p < 0.05。
在具有不同基因特征的肿瘤之间观察到灌注指标存在统计学显著差异，原发性肿瘤以及那些携带特定突变（IDH1野生型、EGFR扩增、CDKN2A纯合缺失、PDGFRA扩增）的肿瘤显示出较高的灌注值。rCBV预测IDH1突变时，截断值<4的敏感性为61.5%，特异性为82.1%。对于CDKN2A缺失，截断值>5时敏感性为75%，特异性为74.6%，ROC值为0.78。
将灌注MRI与基因分析相结合为改善脑肿瘤的诊断和治疗前景提供了一种有前景的方法，标志着向个性化神经肿瘤学迈出了重要一步。此外，像T2/FLAIR不匹配征这样的发现突出了在活检不可行时进行术前分子预测的潜力。这些发现支持在更大规模的多机构研究中进一步验证，以巩固它们在临床实践中的作用。
将灌注MRI与基因分析相结合为改善脑肿瘤的诊断和治疗前景提供了一种有前景的方法，标志着向个性化神经肿瘤学迈出了重要一步。这些发现支持在更大规模的多机构研究中进一步验证，以巩固它们在临床实践中的作用。
