Bai Xu, Peng Cheng, Liu Baichuan, Zhou Shaopeng, Guo Huiping, Hao Yuwei, Liu Haili, Chen Yijian, Liu Xin, Ning Xueyi, Ma Yuanhao, Zhao Jian, Li Lin, Ye Huiyi, Ma Xin, Wang Haiyi
Medical School of Chinese PLA, Beijing, China.
Department of Radiology, First Medical Center, Chinese PLA General Hospital, Beijing, China.
J Magn Reson Imaging. 2025 Apr;61(4):1981-1994. doi: 10.1002/jmri.29588. Epub 2024 Aug 28.
The von Hippel-Lindau (VHL) mutation is an important alteration in clear cell renal cell carcinoma (ccRCC); however, its imaging phenotype remains unclear.
To investigate whether MRI features can reflect the VHL mutation status.
Retrospective.
FIELD STRENGTH/SEQUENCE: 3 T/fast spin echo T2-weighted, spin-echo echo planar diffusion-weighted, gradient recalled echo T1-weighted, gradient recalled echo chemical-shift T1-weighted, and contrast-enhanced gradient recalled echo T1-weighted sequences.
One hundred five patients with ccRCC who underwent preoperative contrast-enhanced MRI and subsequent genomic sequencing: 59 consecutive patients from our institution (38 [64.41%] with VHL mutations) formed a training cohort, and 46 from The Cancer Genome Atlas (TCGA) database (24 [52.17%] with VHL mutations) formed an independent test cohort.
Two radiologists, with 23 and 33 years of experience respectively, jointly evaluated the semantic MRI features of the primary lesion in ccRCCs to propose potential features related to VHL mutations in both cohorts. Three additional readers, with 5, 7, and 10 years of experience respectively, independently reviewed all lesions to assess the interobserver agreement of MRI features. A VHL mutational likelihood score (VHL-MULIS) system was constructed using the training cohort and validated using the independent test cohort.
Fisher's test or chi-square test, t-test or Mann-Whitney U test, logistic regression, Cohen's kappa (κ), area under the receiver operating characteristic curve (AUC). A two-sided P value <0.05 was considered statistically significant.
In both the local and public cohorts, T2-weighted signal intensity and presence of microscopic fat from primary lesions were significantly associated with VHL mutation status. The VHL-MULIS incorporated maximum diameter, T2-weighted signal intensity, and presence of microscopic fat in the training cohort and demonstrated promising diagnostic ability (AUC, 0.82; sensitivity, 0.79; specificity, 0.82) and substantial interobserver agreement (κ, 0.787) in the test cohort.
The VHL mutation exhibited a distinct MRI phenotype. Integrating multiple semantic MRI features has potential to reflect the mutation status in patients with ccRCC.
3 TECHNICAL EFFICACY: Stage 2.
冯·希佩尔-林道（VHL）突变是透明细胞肾细胞癌（ccRCC）的一种重要改变；然而，其影像学表型仍不清楚。
探讨MRI特征是否能反映VHL突变状态。
回顾性研究。
场强/序列：3T/快速自旋回波T2加权、自旋回波平面扩散加权、梯度回波T1加权、梯度回波化学位移T1加权以及对比增强梯度回波T1加权序列。
105例接受术前对比增强MRI及后续基因测序的ccRCC患者：我们机构的59例连续患者（38例[64.41%]有VHL突变）组成训练队列，来自癌症基因组图谱（TCGA）数据库的46例患者（24例[52.17%]有VHL突变）组成独立测试队列。
两位分别有23年和33年经验的放射科医生共同评估ccRCC原发灶的语义MRI特征，以提出两个队列中与VHL突变相关的潜在特征。另外三位分别有5年、7年和10年经验的阅片者独立复查所有病灶，以评估MRI特征的观察者间一致性。使用训练队列构建VHL突变可能性评分（VHL-MULIS）系统，并使用独立测试队列进行验证。
Fisher检验或卡方检验、t检验或Mann-Whitney U检验、逻辑回归、Cohen's kappa（κ）、受试者操作特征曲线下面积（AUC）。双侧P值<0.05被认为具有统计学意义。
在本地和公共队列中，原发灶的T2加权信号强度和微小脂肪的存在与VHL突变状态均显著相关。VHL-MULIS在训练队列中纳入了最大直径、T2加权信号强度和微小脂肪的存在情况，并在测试队列中显示出有前景的诊断能力（AUC，0.82；敏感性，0.79；特异性，0.82）以及较高的观察者间一致性（κ，0.787）。
VHL突变表现出独特的MRI表型。整合多个语义MRI特征有可能反映ccRCC患者的突变状态。
3级 技术效能：2级
