Clinical diagnosis, treatment and screening of the VHL gene in three von Hippel‑Lindau disease pedigrees
- Guobing Lin
- Yihua Zhao
- Zhewei Zhang
- Huijiang Zhang
Affiliations: Department of Urology, The First People's Hospital of Wenling, Wenling, Zhejiang 317500, P.R. China, Department of Urology, Yueqing People's Hospital, Yueqing, Zhejiang 325600, P.R. China, Department of Urology, The Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, Zhejiang 310009, P.R. China, Department of Urology, Lishui City People's Hospital, Lishui, Zhejiang 323000 P.R. China
- Published online on: June 3, 2020 https://doi.org/10.3892/etm.2020.8829
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The present study aimed to investigate the clinical characteristics of von Hippel‑Lindau (VHL) disease and the clinical significance of VHL gene detection. The clinical materials of patients with VHL disease were collected from 3 different families between May 1985 and October 2017. A systematic pedigree study and VHL gene detection at the germline level were performed together with a literature review. Of the 22 patients from 3 VHL pedigrees, 10 exhibited VHL gene mutations (3 genotypes) at the germline level. The genotypes of pedigree were VHL‑p.R161Q (c.482G>A), VHL‑p.N78S (c.233A>G), and VHL‑p.R167Q (c.500G>A). During the follow‑up period, the symptoms were stable in 10 patients, including 2 cases of central nervous system hemangioblastomas (CNS‑HB), 3 cases of bilateral multiple renal cell carcinoma (RCC) and 5 cases of adrenal pheochromocytoma without local recurrence or distant metastasis. Patients with p.R161Q and p.N78S were not associated with CNS‑HB, which was different from the clinical phenotype of previously reported families. RCC were Fuhrman II grade, which was consistent with the previous study. The results of the present study indicated that the standardization of early diagnosis and the improvement of long‑term efficacy may be achieved by combining clinical screening and VHL gene detection.