From the Section of Neuroradiology, Division of Diagnostic Imaging (S.S., A.K., J.B., C.H.)
Sackler School of Medicine (S.S., C.H., M.Y.), Tel Aviv University, Tel Aviv, Israel.
AJNR Am J Neuroradiol. 2022 Sep;43(9):1356-1362. doi: 10.3174/ajnr.A7614. Epub 2022 Aug 25.
and type 1 neurofibromatosis status are distinctive features in pediatric low-grade gliomas with prognostic and therapeutic implications. We hypothesized that DWI metrics obtained through volumetric ADC histogram analyses of pediatric low-grade gliomas at baseline would enable early detection of and type 1 neurofibromatosis status.
We retrospectively evaluated 40 pediatric patients with histologically proved pilocytic astrocytoma ( = 33), ganglioglioma ( = 4), pleomorphic xanthoastrocytoma ( = 2), and diffuse astrocytoma grade 2 ( = 1). Apart from 1 patient with type 1 neurofibromatosis who had a biopsy, 11 patients with type 1 neurofibromatosis underwent conventional MR imaging to diagnose a low-grade tumor without a biopsy. molecular analysis was performed for patients without type 1 neurofibromatosis. Eleven patients presented with V600E-mutant, 20 had rearrangement, and 8 had wild-type tumors. Imaging studies were reviewed for location, margins, hemorrhage or calcifications, cystic components, and contrast enhancement. Histogram analysis of tumoral diffusivity was performed.
Diffusion histogram metrics (mean, median, and 10th and 90th percentiles) but not kurtosis or skewness were different among pediatric low-grade glioma subgroups (< .05). Diffusivity was lowest in V600E-mutant tumors (the 10th percentile reached an area under the curve of 0.9 on receiver operating characteristic analysis). There were significant differences between evaluated pediatric low-grade glioma margins and cystic components ( = .03 and = .001, respectively). Well-defined margins were characteristic of or wild-type rather than V600E-mutant or type 1 neurofibromatosis tumors. None of the type 1 neurofibromatosis tumors showed a cystic component.
Imaging features of pediatric low-grade gliomas, including quantitative diffusion metrics, may assist in predicting and type 1 neurofibromatosis status, suggesting a radiologic-genetic correlation, and might enable early genetic signature characterization.
神经纤维瘤病 1 型(NF1)状态和 1 型神经纤维瘤病状态是儿科低级别胶质瘤的显著特征,具有预后和治疗意义。我们假设,通过对基线时儿科低级别胶质瘤的体素 ADC 直方图分析获得的 DWI 指标能够早期检测到 NF1 状态和 1 型神经纤维瘤病状态。
我们回顾性评估了 40 名经组织学证实为毛细胞型星形细胞瘤(PA;n=33)、节细胞胶质瘤(GA;n=4)、多形性黄色星形细胞瘤(PXA;n=2)和弥漫性星形细胞瘤 2 级(DA 2;n=1)的儿科患者。除了 1 名 NF1 患者接受活检外,11 名 NF1 患者接受了常规 MRI 检查以诊断未经活检的低级别肿瘤。对无 NF1 患者进行了 分子分析。11 名患者存在 V600E 突变,20 名存在 重排,8 名存在野生型肿瘤。对影像学研究进行了位置、边界、出血或钙化、囊性成分和对比增强的评估。对肿瘤弥散性进行了直方图分析。
弥散直方图指标(平均值、中位数以及 10%和 90%分位数)但不是峰度或偏度在儿科低级别胶质瘤亚组之间存在差异(<.05)。V600E 突变肿瘤的弥散性最低(在接受者操作特征分析中,第 10 百分位数达到了 0.9 的曲线下面积)。评估的儿科低级别胶质瘤边界和囊性成分之间存在显著差异(=0.03 和 =0.001)。边界清晰是 或野生型 而不是 V600E 突变或 NF1 肿瘤的特征。没有 1 型神经纤维瘤病肿瘤显示囊性成分。
儿科低级别胶质瘤的影像学特征,包括定量弥散指标,可能有助于预测 NF1 状态和 1 型神经纤维瘤病状态,提示存在放射-遗传相关性,并可能实现早期遗传特征描述。