基于放射基因组学的肾细胞癌MRI纹理特征与基因突变的相关性分析  

Correlation analysis between MRI texture features and gene mutations in renal cell carcinoma based on radiogenomics

作　　者：潘靓[1] 邢兆宇[2] 孙军[1] 丁玖乐[1] 彭妍[3] 陈杰[1] 邢伟[1] Pan Liang;Xing Zhaoyu;Sun Jun;Ding Jiule;Peng Yan;Chen Jie;Xing Wei(Department of Radiology,Third Affiliated Hospital of Soochow University,Changzhou 213003,China;Department of Urology,Third Affiliated Hospital of Soochow University,Changzhou 213003,China;Department of Pathology,Third Affiliated Hospital of Soochow University,Changzhou 213003,China)

机构地区：[1]苏州大学附属第三医院医学影像科,常州213003 [2]苏州大学附属第三医院泌尿外科,常州213003 [3]苏州大学附属第三医院病理科,常州213003

出　　处：《中华放射学杂志》2025年第1期84-90,共7页Chinese Journal of Radiology

基　　金：国家自然科学基金(82001763、82302141、82471966);江苏省自然科学基金(BK20241776);常州市科技计划项目(CJ20230027);南京医科大学常州医学中心重点项目(CMCM202301)。

摘　　要：目的探讨肾透明细胞癌(ccRCC)和非透明细胞癌(n-ccRCC)MRI纹理特征与基因突变的相关性。方法该研究为横断面研究,回顾性分析2011年4月至2019年9月苏州大学附属第三医院经病理证实为肾细胞癌且行基因测序的31例患者资料,ccRCC组19例、n-ccRCC组12例。所有患者术前2周内行MRI扫描。从T 1WI、T 2WI、Dixon-MRI,以及增强皮髓质期(CMP)、肾实质期(NGP)、延迟期(DEP)中分别提取肿瘤纹理特征,并筛选出鉴别ccRCC与n-ccRCC价值最高的MRI纹理特征。采用二代高通量测序方法分析肾脏肿瘤基因突变情况。采用Spearman相关系数分别分析ccRCC和n-ccRCC组突变基因与MRI纹理特征的相关性,并进行KEGG通路富集分析。结果共筛选出8个MRI纹理特征。在ccRCC组中,PTEN突变与DE_Phase_InverseDifferenceMoment_angle0_offset7呈负相关(r=-0.58,P=0.009)。在n-ccRCC组中,SETD2突变与CM_Phase_InverseDifferenceMoment_AllDirection_offset1和Dixon_W_InverseDifferenceMoment_AllDirection_offset7呈正相关(r=0.58、0.63,P=0.048、0.027),PBRM1突变与DE_Phase_InverseDifferenceMoment_angle0_offset7呈正相关(r=0.61,P=0.034)、与DE_Phase_HaraVariance呈负相关(r=-0.60,P=0.039),FAT1突变与DE_Phase_HaraVariance和NG_Phase_Inertia_angle135_offset4呈正相关(r=0.58、0.58,P=0.047、0.047)。KEGG通路富集分析表明,ccRCC组相关突变基因与p53信号通路、肌醇磷酸盐代谢、癌症中枢碳代谢、EGFR酪氨酸激酶抑制剂耐药性、癌症PD-L1表达和PD-1检查点通路以及磷脂酰肌醇信号通路有关。在n-ccRCC组中相关突变基因主要与赖氨酸降解有关。结论ccRCC和n-ccRCC MRI纹理特征与基因突变之间具有相关性,相关突变基因具有不同的富集通路。ObjectiveTo investigate the associations between MRI texture features and genetic mutations in clear cell renal cell carcinoma(ccRCC)and non-ccRCC(n-ccRCC).MethodsThis was a cross-section study.A retrospective review was performed on 31 patients(ccRCC group 19 cases and n-ccRCC group 12 cases)diagnosed with renal cell carcinomas and underwent targeted sequencing between April 2011 and December 2021 in the Third Affiliated Hospital of Soochow University.All the patients underwent MRI examinations within two weeks before partial or radical nephrectomy.Texture features were extracted from T 1WI,T 2WI,Dixon-MRI,cortical-medulla phase(CMP),nephrographic phase(NGP),and delayed phase(DEP)images.MRI texture features with the highest value for distinguishing ccRCC from n-ccRCC were selected for subsequent analysis.The next-generation high-throughput sequencing technology was employed to analyze gene mutations in renal tumors.The correlation between mutation genes and texture features in ccRCC and n-ccRCC was analyzed using Spearman correlation coefficient.Kyoto Encyclopedia of Genes and Genomes(KEGG)pathway annotation analysis was performed.ResultsA total of 8 MRI texture features were selected.In the ccRCC group,PTEN mutation was correlated with DEP_InverseDifferenceMoment_angle0_offset7(r=-0.58,P=0.009).In the non-ccRCC group,SETD2 mutation was correlated with CM_Phase_InverseDifferenceMoment_AllDirection_offset1 and Dixon_W_InverseDifferenceMoment_AllDirection_offset7(r=0.58,0.63,P=0.048,0.027),PBRM1 mutation was correlated with DE_Phase_InverseDifferenceMoment_angle0_offset7 and DE_Phase_HaraVariance(r=0.61,-0.60,P=0.034,0.039),and FAT1 mutation was correlated with DE_Phase_HaraVariance and NG_Phase_Inertia_angle135_offset4(r=0.58,0.58,P=0.047,0.047).The KEGG pathway annotation analysis showed that the mechanisms of the mutation genes that correlated with MRI texture features in the ccRCC group were related to the p53 signaling pathway,inositol phosphate metabolism,central carbon metabolism in cancer,EGFR tyrosine kin

关 键 词：癌 肾细胞 磁共振成像 放射基因组学 

分 类 号：R73[医药卫生—肿瘤]