Xu Bai MD, Cheng Peng MD, Baichuan Liu MD, Shaopeng Zhou MD, Huiping Guo MD, Yuwei Hao MD, Haili Liu MD, Yijian Chen MD, Xin Liu MD, Xueyi Ning MD, Yuanhao Ma MD, Jian Zhao MD, Lin Li PhD, Huiyi Ye MD, Xin Ma MD, Haiyi Wang MD
{"title":"透明细胞肾细胞癌:利用磁共振成像鉴定 Von Hippel-Lindau 突变的表型。","authors":"Xu Bai MD, Cheng Peng MD, Baichuan Liu MD, Shaopeng Zhou MD, Huiping Guo MD, Yuwei Hao MD, Haili Liu MD, Yijian Chen MD, Xin Liu MD, Xueyi Ning MD, Yuanhao Ma MD, Jian Zhao MD, Lin Li PhD, Huiyi Ye MD, Xin Ma MD, Haiyi Wang MD","doi":"10.1002/jmri.29588","DOIUrl":null,"url":null,"abstract":"<div>\n \n <section>\n \n <h3> Background</h3>\n \n <p>The von Hippel–Lindau (VHL) mutation is an important alteration in clear cell renal cell carcinoma (ccRCC); however, its imaging phenotype remains unclear.</p>\n </section>\n \n <section>\n \n <h3> Purpose</h3>\n \n <p>To investigate whether MRI features can reflect the VHL mutation status.</p>\n </section>\n \n <section>\n \n <h3> Study Type</h3>\n \n <p>Retrospective.</p>\n </section>\n \n <section>\n \n <h3> Field Strength/Sequence</h3>\n \n <p>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.</p>\n </section>\n \n <section>\n \n <h3> Population</h3>\n \n <p>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.</p>\n </section>\n \n <section>\n \n <h3> Assessment</h3>\n \n <p>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.</p>\n </section>\n \n <section>\n \n <h3> Statistical Tests</h3>\n \n <p>Fisher's test or chi-square test, <i>t</i>-test or Mann–Whitney <i>U</i> test, logistic regression, Cohen's kappa (<i>κ</i>), area under the receiver operating characteristic curve (AUC). A two-sided <i>P</i> value <0.05 was considered statistically significant.</p>\n </section>\n \n <section>\n \n <h3> Results</h3>\n \n <p>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 (<i>κ</i>, 0.787) in the test cohort.</p>\n </section>\n \n <section>\n \n <h3> Data Conclusion</h3>\n \n <p>The VHL mutation exhibited a distinct MRI phenotype. Integrating multiple semantic MRI features has potential to reflect the mutation status in patients with ccRCC.</p>\n </section>\n \n <section>\n \n <h3> Evidence Level</h3>\n \n <p>3</p>\n </section>\n \n <section>\n \n <h3> Technical Efficacy</h3>\n \n <p>Stage 2</p>\n </section>\n </div>","PeriodicalId":16140,"journal":{"name":"Journal of Magnetic Resonance Imaging","volume":"61 4","pages":"1981-1994"},"PeriodicalIF":3.3000,"publicationDate":"2024-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Clear Cell Renal Cell Carcinoma: Characterizing the Phenotype of Von Hippel–Lindau Mutation Using MRI\",\"authors\":\"Xu Bai MD, Cheng Peng MD, Baichuan Liu MD, Shaopeng Zhou MD, Huiping Guo MD, Yuwei Hao MD, Haili Liu MD, Yijian Chen MD, Xin Liu MD, Xueyi Ning MD, Yuanhao Ma MD, Jian Zhao MD, Lin Li PhD, Huiyi Ye MD, Xin Ma MD, Haiyi Wang MD\",\"doi\":\"10.1002/jmri.29588\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div>\\n \\n <section>\\n \\n <h3> Background</h3>\\n \\n <p>The von Hippel–Lindau (VHL) mutation is an important alteration in clear cell renal cell carcinoma (ccRCC); however, its imaging phenotype remains unclear.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Purpose</h3>\\n \\n <p>To investigate whether MRI features can reflect the VHL mutation status.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Study Type</h3>\\n \\n <p>Retrospective.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Field Strength/Sequence</h3>\\n \\n <p>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.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Population</h3>\\n \\n <p>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.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Assessment</h3>\\n \\n <p>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.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Statistical Tests</h3>\\n \\n <p>Fisher's test or chi-square test, <i>t</i>-test or Mann–Whitney <i>U</i> test, logistic regression, Cohen's kappa (<i>κ</i>), area under the receiver operating characteristic curve (AUC). A two-sided <i>P</i> value <0.05 was considered statistically significant.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Results</h3>\\n \\n <p>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 (<i>κ</i>, 0.787) in the test cohort.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Data Conclusion</h3>\\n \\n <p>The VHL mutation exhibited a distinct MRI phenotype. Integrating multiple semantic MRI features has potential to reflect the mutation status in patients with ccRCC.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Evidence Level</h3>\\n \\n <p>3</p>\\n </section>\\n \\n <section>\\n \\n <h3> Technical Efficacy</h3>\\n \\n <p>Stage 2</p>\\n </section>\\n </div>\",\"PeriodicalId\":16140,\"journal\":{\"name\":\"Journal of Magnetic Resonance Imaging\",\"volume\":\"61 4\",\"pages\":\"1981-1994\"},\"PeriodicalIF\":3.3000,\"publicationDate\":\"2024-08-28\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Magnetic Resonance Imaging\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1002/jmri.29588\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Magnetic Resonance Imaging","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/jmri.29588","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING","Score":null,"Total":0}
Clear Cell Renal Cell Carcinoma: Characterizing the Phenotype of Von Hippel–Lindau Mutation Using MRI
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.
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.
期刊介绍:
The Journal of Magnetic Resonance Imaging (JMRI) is an international journal devoted to the timely publication of basic and clinical research, educational and review articles, and other information related to the diagnostic applications of magnetic resonance.