You have accessJournal of UrologyKidney Cancer: Basic Research & Pathophysiology I (MP08)1 Apr 2020MP08-06 COMPREHENSIVE GENOMIC LANDSCAPE IN CHINESE CLEAR CELL RENAL CELL CARCINOMA PATIENTS Jiwei Huang*, Wen Cai, Shiqing Chen, Wen Kong, Jin Zhang, Yonghui Chen, Yiran Huang, and Wei Xue Jiwei Huang*Jiwei Huang* More articles by this author , Wen CaiWen Cai More articles by this author , Shiqing ChenShiqing Chen More articles by this author , Wen KongWen Kong More articles by this author , Jin ZhangJin Zhang More articles by this author , Yonghui ChenYonghui Chen More articles by this author , Yiran HuangYiran Huang More articles by this author , and Wei XueWei Xue More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000000828.06AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: Clear cell renal cell carcinoma (ccRCC) is the most common subtype of renal cell carcinoma (RCC). Recent therapeutic advances, such as VEGFR-targeted therapy and immunotherapy, have greatly improved the prognosis of ccRCC patients. Revealing comprehensive genomic features could evolve our understanding of ccRCC. The Cancer Genome Atlas (TCGA) has conducted comprehensive molecular characterizations in ccRCC. However, the genomic landscape in Chinese ccRCC still needs to be elucidated. In the present study, we aimed to investigate the molecular features of Chinese ccRCC patients. METHODS: Genomic profiling of DNA was performed through next generation sequencing (NGS) from Chinese patients with ccRCC between January, 2017 and August, 2019. Clinical information including age, gender, and tumor histology were collected. IHC staining for PD-L1 expression was performed using PD-L1 IHC 22C3 pharmDx assay or Ventana PD-L1 SP263 assay. Data analyses were performed using R 3.6.1. RESULTS: A total of 722 Chinese ccRCC patients who have undergone NGS were included in this study, including 524 (72.6%) male and 198 (27.4%) female patients. The median age was 55 (range, 14-87). The most common somatic alterations were detected in VHL (53.2%), PBRM1 (14.4%), TP53 (11.5%), SETD2 (11.1%), and BAP1 (9.8%) (Figure 1). Compared with TCGA database, lower mutation frequency of PBRM1 (14.4% vs 31.0%, p <0.001) and higher mutation frequency of TP53 (11.5% vs 3.5%, p <0.001) were found in Chinese cohort. Of the 315 patients who were evaluated for PD-L1 expression, 103 (32.7%) had a PD-L1 Tumor Proportion Score (TPS) of 1% or greater. Significantly lower mutation frequency of VHL were observed among patients with PD-L1-positive tumors, compared with those with PD-L1-negative tumors (37.9% vs 68.4%, p < 0.001). The median TMB value was 4.84 muts/Mb (range: 0-45.97). Five (0.9%) patients were identified as MSI-H. 30 (4.2%) patients were identified to carry pathogenic (25/30, 83.3%) or likely pathogenic (5/30, 16.7%) germline mutations in 17 cancer predisposition genes. CONCLUSIONS: This is the first large-scale comprehensive genomic analysis for Chinese ccRCC patients, and these results provide a better understanding of molecular features in Chinese ccRCC patients which lead to an improvement in the personalized treatment for these patients. Source of Funding: This study was supported by grant number18ZR1423200 form Shanghai Science and Technology Commission Research Project, 16CR3062B from Three-year action program of Shanghai Hospital Development center. © 2020 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 203Issue Supplement 4April 2020Page: e107-e107 Advertisement Copyright & Permissions© 2020 by American Urological Association Education and Research, Inc.MetricsAuthor Information Jiwei Huang* More articles by this author Wen Cai More articles by this author Shiqing Chen More articles by this author Wen Kong More articles by this author Jin Zhang More articles by this author Yonghui Chen More articles by this author Yiran Huang More articles by this author Wei Xue More articles by this author Expand All Advertisement PDF downloadLoading ...