Abstract: PD52-10
Sources of Funding: Supported by National Natural Science Foundation of China(Grand number 81572506)

Introduction

Von Hipple-Lindau(VHL) disease is a rare autosomal dominant familial cancer syndrome with age relatived cancer onset in patients' life. The five common tumors are central nervous system (CNS) hemangioblastoma, renal cell carcinoma(RCC) ,retinal angioma(RA), pancreatic cyst and tumor(PCT), and pheochromocytoma(Pheo). Until now, no reliable markers are found to predict the age-related tumor risks in VHL patiens. The present study has evaluated the influence of peripheral leukocyte telomere length on age-related tumor risks in a large group of VHL patients.

Methods

Genomic DNA was extracted from peripheral blood of 187 VHL patients. Tumor onset age was defined as the age when any symptom or imaging sign of the tumor first occurred. Age-related risks of the five tumors were evaluated using Kaplan-Meier plot and Cox regression model. Relative telomere length(RTL) was measured with qRT-PCR method.

Results

The main death-causing tumor CNS hemangioblastoma occurred in 53.5%(100/187) VHL patients in our study, and the mean onset age was 30.2±11.3 years old. In the shorter RTL group(RTL<0.44), the first tumor onset age was 7.7 years earlier than the longer one(25.2±8.6y vs 32.9±12.3y, p<0.001). The shorter RTL group displayed a statistically higher age-related risks than the longer RTL group for CNS(HR1.99, p=0.001), RCC(2.02, p=0.0030), PCT(2.11, p<0.001) and Pheo(3.13, p=0.005).

Conclusions

We for the first time propose that peripheral leukocyte telomere length may be associated with risks of VHL-related tumors, which may be helpful for establishing personalized surveillance plan for VHL patients and for further understanding the pathogenesis of VHL disease.

Funding

Supported by National Natural Science Foundation of China(Grand number 81572506)