Presentation Authors: Kaifang Ma*, Baoan Hong, Haibiao Xie, Kan Gong, Beijing, China, People's Republic of
Introduction: 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: the National Natural Science Foundation of China (grant 81572506; 81872081)ï¼›Peking University Health Science Center 985 Action Plan (grant BMU2018WRLJ001)