MP80-14 SURVIVAL DIFFERENCES IN PATIENTS WITH VON HIPPEL-LINDAU DISEASE BASED ON POSITIVE AND NEGATIVE FAMILY HISTORY

Abstract

You have accessJournal of UrologyKidney Cancer: Epidemiology & Evaluation/Staging/Surveillance III (MP80)1 Apr 2020MP80-14 SURVIVAL DIFFERENCES IN PATIENTS WITH VON HIPPEL-LINDAU DISEASE BASED ON POSITIVE AND NEGATIVE FAMILY HISTORY Kaifang Ma*, Lei Li, Lin Cai, Kan Gong, and Zhang Kenan Kaifang Ma*Kaifang Ma* More articles by this author , Lei LiLei Li More articles by this author , Lin CaiLin Cai More articles by this author , Kan GongKan Gong More articles by this author , and Zhang KenanZhang Kenan More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000000972.014AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: Von Hippel-Lindau (VHL) disease is an autosomal-dominant hereditary cancer syndrome occurring in approximately one in 36000 births. Although survival analysis of VHL patients has been described in some studies, the difference between positive family history and negative family history patients remain unclear. We aimed to assess survival differences of patients with VHL disease based on positive and negative family history. METHODS: Patients who diagnosed with VHL disease (n=588) from 216 VHL families were recruited in this retrospective study. We divided patients based on family history: positive family history (PFH) patients (n=507) and negative family history (NFH) patients (n=81). Age-related penetrance of the six major VHL lesions and survival analysis were calculated using Kaplan-Meier plot and Log-rank test. RESULTS: VHL patients with positive family history had lower risks of central nervous system hemangioblastoma (HR=0.55, p=0.0007), renal cell carcinoma (HR=0.28, p<0.0001), pancreatic lesions (HR=0.27, p<0.0001), pheochromocytoma (HR=0.38, p=0.0039), and epididymal or broad ligament cystadenoma (HR=0.23, p=0.0007) than those with negative family history (figure 1). Furthermore, the mean age of first presenting symptom in PFH group was 31.93 years (range 2-74 years), and NFH group was 28.46 years (range 10-54 years). The study also revealed that VHL disease showed high age-associated penetrance in Chinese, the cumulative penetrance by 65 years was about 96.8%. And the median survival for Chinese patients with VHL disease was 61 years (figure 2). CONCLUSIONS: This largest VHL survival analysis manifested that positive family history may be a protective factor of better survival in VHL patients, which is helpful to genetic counselling and clinical decision-making. Source of Funding: This work was supported by the National Natural Science Foundation of China (grant 81572506 and grant 81872081). © 2020 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 203Issue Supplement 4April 2020Page: e1230-e1231 Advertisement Copyright & Permissions© 2020 by American Urological Association Education and Research, Inc.MetricsAuthor Information Kaifang Ma* More articles by this author Lei Li More articles by this author Lin Cai More articles by this author Kan Gong More articles by this author Zhang Kenan More articles by this author Expand All Advertisement PDF downloadLoading ...