Abstract
Von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome characterized by poor survival. The effect of the involvement of each organ on survival remains unclear. Our study aimed to study the effect of the involvement of each organ on survival in VHL disease patients. We retrospectively analyzed 336 patients from 125 families. The onset age was compared between different groups using Mann-Whitney U test and Kruskal-Wallis test. Univariate and multivariate time-dependent Cox regression analyses were conducted to evaluate how survival was influenced by the involvement of each organ. The median survival time for VHL disease patients was 66 years. The onset age was earlier in the central nervous system (CNS) group than in the abdominal group. The involvement of central nervous system hemangioblastoma (CHB) and retinal hemangioblastoma (RA) were independent risk factors for overall survival. The involvement of renal cell carcinoma (RCC) was not a significant risk factor for overall survival. Only RA was a risk factor for CHB-specific survival. This study analyzed the relationship between organ involvement and survival of VHL patients. This may help guide future genetic counseling and clinical decision-making.
Highlights
Von Hippel-Lindau (VHL) disease (MIM 193300) is an autosomal dominant tumor syndrome caused by germline mutations in the tumor suppressor gene VHL located on 3p25
We aimed to study the overall survival and central nervous system hemangioblastoma (CHB)-specific survival in a large VHL disease patient group that includes asymptomatic mutation carriers and to investigate the influence of CHB, renal cell carcinoma (RCC), retinal hemangioblastoma (RA), PCL/PNET and PHEO, in order to improve genetic counseling and clinical treatment strategies for VHL disease patients
Because CHB accounted for nearly two-thirds of the death (66.2%, 45 of 68) and CHB was a significant risk factor for overall survival in both univariate and multivariate Cox regression analyses, we further studied the effect of other organ involvement on CHB-specific survival
Summary
Von Hippel-Lindau (VHL) disease (MIM 193300) is an autosomal dominant tumor syndrome caused by germline mutations in the tumor suppressor gene VHL located on 3p25. Benign and malignant tumors including central nervous system hemangioblastoma (CHB), retinal hemangioblastoma (RA), renal cell carcinoma (RCC), pheochromocytoma (PHEO), pancreatic lesions, including pancreatic cystic lesion, and pancreatic neuroendocrine tumors (PCL/PNET), endolymphatic sac tumor (ELST) and papillary cystadenomas of the epididymis or broad ligament are the main manifestations of this disease [4,5,6,7,8,9,10,11] Both intra- and interfamilial phenotypic heterogeneity can be seen in VHL disease patients [12, 13]. Reported risk factors for survival of VHL disease patients included early birth year, fewer monitoring visits, female gender, positive family history, early disease onset, truncating mutation type and RCC larger than 3 cm [15, 17, 18]. No previous research has studied the effects of the involvement of each organ in a large patient group
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