Clear Cell Renal Cell Carcinoma: Characterizing the Phenotype of Von Hippel–Lindau Mutation Using MRI

医学 肾透明细胞癌 精确检验 肾细胞癌 队列 曼惠特尼U检验 磁共振成像 接收机工作特性 回顾性队列研究 放射科 核医学 病理 肿瘤科 内科学
作者
Xu Bai,Cheng Peng,Baichuan Liu,Shaopeng Zhou,Huiping Guo,Yuwei Hao,Haili Liu,Yijian Chen,Xin Liu,Xueyi Ning,Yuanhao Ma,Jian Zhao,Lin Li,Huiyi Ye,Xin Ma,Haiyi Wang
出处
期刊:Journal of Magnetic Resonance Imaging [Wiley]
被引量:1
标识
DOI:10.1002/jmri.29588
摘要

Background The von Hippel–Lindau (VHL) mutation is an important alteration in clear cell renal cell carcinoma (ccRCC); however, its imaging phenotype remains unclear. Purpose To investigate whether MRI features can reflect the VHL mutation status. Study Type 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. Population 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. Assessment 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. Statistical Tests 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. Results 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. Data Conclusion The VHL mutation exhibited a distinct MRI phenotype. Integrating multiple semantic MRI features has potential to reflect the mutation status in patients with ccRCC. Evidence Level 3 Technical Efficacy Stage 2
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