MP50-17 NOVEL GENETIC CHARACTERIZATION AND PHENOTYPE CORRELATION IN VON HIPPEL-LINDAU (VHL) DISEASE BASED ON ELONGIN C BINDING SITE: A LARGE RETROSPECTIVE STUDY

Abstract

You have accessJournal of UrologyKidney Cancer: Epidemiology & Evaluation/Staging/Surveillance I (MP50)1 Apr 2020MP50-17 NOVEL GENETIC CHARACTERIZATION AND PHENOTYPE CORRELATION IN VON HIPPEL-LINDAU (VHL) DISEASE BASED ON ELONGIN C BINDING SITE: A LARGE RETROSPECTIVE STUDY Haibiao Xie*, Kan Gong, Lin Cai, Kaifang Ma, Jingcheng Zhou, Lei Li, and Kenan Zhang Haibiao Xie*Haibiao Xie* More articles by this author , Kan GongKan Gong More articles by this author , Lin CaiLin Cai More articles by this author , Kaifang MaKaifang Ma More articles by this author , Jingcheng ZhouJingcheng Zhou More articles by this author , Lei LiLei Li More articles by this author , and Kenan ZhangKenan Zhang More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000000912.017AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: VHL disease is an autosomal dominant genetic tumor syndrome due to mutations in the VHL gene lineage, the prognosis is generally poor. This study aimed to provide a more valuable genotype-phenotype correlation based on Elongin C binding site in VHL disease. METHODS: This study included 553 patients (194 families) who were diagnosed with VHL disease in our center from September 2010 to February 2019.According to the type of gene mutation, the patients are divided into Elongin C binding site missense mutation group (EM), non-Elongin C binding site missense mutation (nEM), and truncation mutation group (TR). We analyzed and compared the age-related tumor risk and prognosis of in various groups. RESULTS: 14 new VHL intragenic mutations were found in this cohort. Compared EM group with nEM or TR group (nEM-TR), the age-related risk of CHB, PCT in EM was lower than in nEM-TR, which of PHEO was higher. What’s more, the prognosis of EM and nEM-TR was analyzed. The median survival period of EM was longer than that of nEM-TR, and the total survival along with CHB-specific survival of EM were better than that of nEM-TR. CONCLUSIONS: In conclusion, our study demonstrated the EM was an independent risk factor for pheochromocytoma. EM is also an independent protective factor for CHB age-related risk and overall survival along with CHB-specific survival in VHL disease. This modified genotype-phenotype correlation integrates gene mutation, Elongin B bindings site, and phenotypic diversity, and provided certain reference for clinical diagnosis. Source of Funding: National Natural Science Foundation of China (No. 81572506 and 81872081), and the Fundamental Research Funds for the Central Universities (No. BMU2018JI002). © 2020 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 203Issue Supplement 4April 2020Page: e760-e760 Advertisement Copyright & Permissions© 2020 by American Urological Association Education and Research, Inc.MetricsAuthor Information Haibiao Xie* More articles by this author Kan Gong More articles by this author Lin Cai More articles by this author Kaifang Ma More articles by this author Jingcheng Zhou More articles by this author Lei Li More articles by this author Kenan Zhang More articles by this author Expand All Advertisement PDF downloadLoading ...