弥散加权成像在 BRAF V600E 突变型与野生型脑毛细胞星形细胞瘤和神经节细胞瘤鉴别诊断中的作用。

Role of diffusion weighted imaging for differentiating cerebral pilocytic astrocytoma and ganglioglioma BRAF V600E-mutant from wild type.

机构信息

Fondazione Policlinico Universitario "A. Gemelli" IRCCS, UOC Radiodiagnostica e Neuroradiologia, Dipartimento di Diagnostica per Immagini, Radioterapia, Oncologia ed Ematologia, Roma, Italia.

Università Cattolica del Sacro Cuore, Istituto di Radiologia, Roma, Italia.

出版信息

Neuroradiology. 2020 Jan;62(1):71-80. doi: 10.1007/s00234-019-02304-y. Epub 2019 Oct 30.

Abstract

PURPOSE

BRAF V600E mutation is a distinctive genomic alteration of pediatric low-grade gliomas with prognostic and therapeutic implications. The aim of this retrospective multicenter study was to analyze imaging features of BRAF V600E-mutant and wild-type cerebral pilocytic astrocytomas (PAs) and gangliogliomas (GGs), focusing on the role of diffusion weighted imaging (DWI).

METHODS

We retrospectively evaluated 56 pediatric patients with histologically proven, treatment-naïve PAs and GGs who underwent conventional MRI, DWI, and molecular analysis for BRAF V600E mutation. Twenty-three subjects presented BRAF V600E-mutant (12 PAs and 11 GGs) and 33 BRAF V600E wild-type (26 PAs and 7 GGs) tumors. Imaging studies were reviewed for dominant site, margin definition, hemorrhage, calcification, cystic components, contrast enhancement, and relative mean and minimum ADC values (rADCmean and rADCmin). Statistics included Fisher's exact test, Student t test, general linear model, and receiver operating characteristic (ROC) analysis.

RESULTS

PA and GG BRAF V600E-mutant had significantly lower rADCmean (p < 0.001) and rADCmin (p < 0.001) values than wild type, regardless of tumor histology and location. ROC analysis demonstrated similar performances between these parameters in predicting BRAF V600E status (rADCmean: AUC 0.831, p < 0.001; rADCmin: AUC 0.885, p < 0.001). No significant differences regarding additional imaging features emerged between BRAF V600E-mutant and wild-type lesions, with the exception of the number of tumors with cystic components, significantly higher in BRAF V600E-mutant PAs (p = 0.011) CONCLUSION: Assessment of the DWI characteristics of GGs and PAs may assist in predicting BRAF V600E status, suggesting a radiogenomic correlation and prompt molecular characterization of these tumors.

摘要

目的

BRAF V600E 突变是小儿低级别胶质瘤的独特基因组改变,具有预后和治疗意义。本回顾性多中心研究的目的是分析 BRAF V600E 突变型和野生型脑毛细胞星形细胞瘤(PA)和神经节细胞瘤(GG)的影像学特征,重点研究弥散加权成像(DWI)的作用。

方法

我们回顾性评估了 56 名经组织学证实、未经治疗的 PA 和 GG 患儿,这些患儿接受了常规 MRI、DWI 和 BRAF V600E 突变的分子分析。23 名患者表现为 BRAF V600E 突变(12 例 PA 和 11 例 GG),33 名患者表现为 BRAF V600E 野生型(26 例 PA 和 7 例 GG)肿瘤。对优势部位、边缘定义、出血、钙化、囊性成分、对比增强以及相对平均和最小 ADC 值(rADCmean 和 rADCmin)进行了影像学研究回顾。统计分析包括 Fisher 精确检验、学生 t 检验、广义线性模型和受试者工作特征(ROC)分析。

结果

PA 和 GG BRAF V600E 突变型的 rADCmean(p < 0.001)和 rADCmin(p < 0.001)值明显低于野生型,无论肿瘤组织学和位置如何。ROC 分析表明,这些参数在预测 BRAF V600E 状态方面具有相似的性能(rADCmean:AUC 0.831,p < 0.001;rADCmin:AUC 0.885,p < 0.001)。BRAF V600E 突变型和野生型病变之间在其他影像学特征方面没有显著差异,除了 BRAF V600E 突变型 PA 的囊性成分肿瘤数量明显较高(p = 0.011)。

结论

评估 GG 和 PA 的 DWI 特征可能有助于预测 BRAF V600E 状态,提示存在放射基因组相关性,并提示对这些肿瘤进行快速分子特征分析。

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