背景:vonHippel-Lindau(VHL)突变是透明细胞肾细胞癌(ccRCC)的重要改变;然而,其影像学表型尚不清楚.
目的:探讨MRI特征能否反映VHL突变状态。
方法:回顾性。
■3T/快速自旋回波T2加权,自旋回波回波平面扩散加权,梯度召回回波T1加权,梯度召回回波化学位移T1加权,和对比增强梯度召回回波T1加权序列。
方法:105例ccRCC患者接受了术前对比增强MRI和随后的基因组测序:来自我们机构的59例连续患者(38例[64.41%]VHL突变)形成了一个训练队列,来自癌症基因组图谱(TCGA)数据库的46例(24例[52.17%]有VHL突变)形成了独立的测试队列.
结果:两名放射科医生,分别有23年和33年的经验,联合评估ccRCC原发病灶的语义MRI特征,以提出两个队列中与VHL突变相关的潜在特征.三个额外的读者,分别有5年、7年和10年的经验,独立审查了所有病变,以评估MRI特征的观察者间一致性.使用训练队列构建VHL突变似然评分(VHL-MULIS)系统,并使用独立测试队列进行验证。
方法:Fisher检验或卡方检验,t检验或曼-惠特尼U检验,逻辑回归,科恩的卡帕(κ),接收器工作特性曲线下面积(AUC)。双侧P值<0.05被认为是统计学上显著的。
结果:在本地和公共队列中,T2加权信号强度和原发灶微观脂肪的存在与VHL突变状态显着相关。VHL-MULIS包含最大直径,T2加权信号强度,以及训练组中微观脂肪的存在,并证明了有希望的诊断能力(AUC,0.82;灵敏度,0.79;特异性,0.82)和实质性的观察者间协议(κ,0.787)在测试队列中。
结论:VHL突变表现出明显的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。
方法:3技术效果:阶段2。
BACKGROUND: The von Hippel-Lindau (VHL) mutation is an important alteration in clear cell renal cell carcinoma (ccRCC); however, its imaging phenotype remains unclear.
OBJECTIVE: To investigate whether MRI features can reflect the VHL mutation status.
METHODS: Retrospective.
UNASSIGNED: 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.
METHODS: 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.
RESULTS: 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.
METHODS: 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.
CONCLUSIONS: The VHL mutation exhibited a distinct MRI phenotype. Integrating multiple semantic MRI features has potential to reflect the mutation status in patients with ccRCC.
METHODS: 3 TECHNICAL EFFICACY: Stage 2.