基于 MRI 形态学特征和弥散加权成像的非侵入性预测多形性黄色星形细胞瘤的 BRAF V600E 突变状态。

Noninvasive prediction of BRAF V600E mutation status of pleomorphic xanthoastrocytomas with MRI morphologic features and diffusion-weighted imaging.

机构信息

Department of MRI, The First Affiliated Hospital of Zhengzhou University, Jianshe Dong Road 1, Zhengzhou, Henan Province, 450052, China.

Department of Radiology, Children's Hospital of Hangzhou, 195 Wenhui Road, Hangzhou, Zhejiang Province, 310014, China.

出版信息

BMC Cancer. 2024 Aug 19;24(1):1022. doi: 10.1186/s12885-024-12713-9.

DOI:10.1186/s12885-024-12713-9

PMID:39160463

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11331820/

Abstract

OBJECTIVES

Seeking a noninvasive predictor for BRAF V600E mutation status of pleomorphic xanthoastrocytomas (PXAs) is essential for their prognoses and therapeutic use of BRAF inhibitors. We aimed to noninvasively diagnose BRAF V600E-mutated PXAs using MRI morphologic, DWI and clinical parameters.

METHODS

The clinical findings, anatomical MRI characteristics, and diffusion parameters of 36 pathologically confirmed PXAs were retrospectively analyzed, and BRAF V600E-mutated (n = 16) and wild-type (n = 20) groups were compared. A binary logistic-regression analysis was performed, and a ROC curve was calculated to determine the independent predictors of BRAF V600E mutation status, diagnostic accuracy, and optimal cut-off value.

RESULTS

A comparison of findings between groups showed that BRAF V600E-mutated PXAs were more frequent in children and young adults (≤ 35 years; P = 0.042) who often had histories of seizures (P = 0.004). Furthermore, BRAF V600E-mutated PXAs generally presented as solitary masses (P = 0.024), superficial locations with meningeal attachment (P < 0.001), predominantly cystic with mural nodules (P = 0.005), and had greater minimal ADC ratio (ADC) values of the tumor and peritumoral edema (P < 0.001). Binary logistic regression showed that age ≤ 35 years, solitary mass, superficial locations with meningeal attachment, and a greater minimal ADC of the tumor were independent predictors of BRAF V600E-mutated PXAs. The combination of all four independent predictors resulted in the highest sensitivity (100%) and specificity (90%), with AUC = 0.984.

CONCLUSION

The BRAF V600E mutation status of PXAs could be noninvasively predicted using clinical and MRI characteristics.

CRITICAL RELEVANCE STATEMENT

The noninvasive diagnostic criteria for BRAF V600E-mutated PXAs could offer guidance for the administration of BRAF V600E mutation inhibitors in the future.

摘要

目的

寻找一种非侵入性方法来预测多形性黄色星形细胞瘤（PXAs）的 BRAF V600E 突变状态，对于其预后和 BRAF 抑制剂的治疗至关重要。本研究旨在使用 MRI 形态学、DWI 和临床参数无创性诊断 BRAF V600E 突变型 PXAs。

方法

回顾性分析 36 例经病理证实的 PXAs 的临床资料、解剖 MRI 特征和弥散参数，比较 BRAF V600E 突变型（n=16）和野生型（n=20）。进行二元逻辑回归分析，并计算 ROC 曲线以确定 BRAF V600E 突变状态、诊断准确性和最佳截断值的独立预测因子。

结果

组间比较结果显示，BRAF V600E 突变型 PXAs 更常见于儿童和年轻成人（≤35 岁；P=0.042），且常伴有癫痫发作（P=0.004）。此外，BRAF V600E 突变型 PXAs 通常表现为单发肿块（P=0.024），位于表浅部位且与脑膜相连（P<0.001），主要为囊性伴壁结节（P=0.005），肿瘤和瘤周水肿的最小 ADC 比值（ADC）值更大（P<0.001）。二元逻辑回归显示，年龄≤35 岁、单发肿块、表浅部位脑膜附着和肿瘤最小 ADC 值更大是 BRAF V600E 突变型 PXAs 的独立预测因子。四项独立预测因子的组合可获得最高的敏感性（100%）和特异性（90%），AUC=0.984。