Background Historically, von Hippel-Lindau (VHL) disease is characterised by a poor survival. Although genotype–phenotype correlation has been described in many studies, the risk factors for VHL survival remain unclear. This study aims to evaluate the median survival of Chinese patients with VHL disease and explore whether VHL survival is influenced by genetic and clinical factors.
Methods In this retrospective study, we recruited 340 patients from 127 VHL families. Kaplan-Meier plot and Cox regression model were used to evaluate the median survival and assess how survival was influenced by birth year, birth order, sex, family history, mutation type, onset age and first presenting symptom.
Results The estimated median life expectancy for Chinese patients with VHL disease was 62 years. Patients with early-onset age, positive family history and truncating mutation types had poorer overall and VHL-related survival. Patients with haemangioblastoma as their first presenting symptom were related to a higher risk of death from central nervous system haemangioblastoma than those with abdominal lesions (HR 8.84, 95% CI 2.04 to 38.37, P=0.004).
Conclusions This largest VHL survival analysis indicates that onset age, family history, mutation type and first presenting symptom have an effect on the survival of patients with VHL disease, which is helpful to genetic counselling and clinical decision-making.
- von Hippel-Lindau disease
- risk factor
- genetic cancer syndrome
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Contributors KG and LC were responsible for the concept and design of the study. J-YW, S-HP and TL dealt with the clinical data. X-HN, S-JL, B-AH and J-YY did the statistical work. WP-Y, P-JW, B-WZ, J-CZ and N-NQ drafted the manuscript. XP, J-FZ and K-FM dealt with the figures and tables. All authors revised the manuscript.
Funding This work was supported by the National Natural Science Foundation of China (grant number: 81572506), Beijing Municipal Science and Technology Commission (grant number Z151100003915126) and Beijing Municipal Commission of Health and Family Planning (grant number 2016-2-4074).
Competing interests None declared.
Patient consent Obtained.
Ethics approval This project was approved by the Medical Ethics Committee of Peking University First Hospital (Beijing, China).
Provenance and peer review Not commissioned; externally peer reviewed.