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

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 · 发表于：Journal of Magnetic Resonance Imaging · 年份：2024 · DOI：10.1002/jmri.29588 · 被引用次数：3 · 研究领域：Renal cell carcinoma treatment、Cancer, Hypoxia, and Metabolism、Genetic and Kidney Cyst Diseases

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-Whitn...