TY - JOUR AB - Von Hippel-Lindau (VHL) disease is an autosomal dominant familial cancer syndrome. VHL is characterized by the development of renal cell carcinoma (RCC), hemangioblastomas of the central nervous system or retina and pheochromocytoma (PCC). RCC and PCC are known to be caused by germline mutations of six and ten genes, respectively. In the present study, 30 individuals from two unrelated pedigrees with type 2A and 2C VHL syndrome were investigated. The patients were clinically examined and treated by radical nephrectomy [or nephron‑sparing surgery (NSS)] and cortical-sparing adrenalectomy (CSA), and all members of the two families underwent genetic screening. Two members from the first family were diagnosed with PCC and RCC, and three individuals from the second family who had only hypertension were diagnosed with PCC. Heterozygous variants of the VHL gene, c.A233G (p.N78S) within exon 1 and c.G482A (p.R161Q) within exon 3, were verified, respectively. Surgery was performed on all the patients, with the exception of an asymptomatic 5-year-old p.N78S male in family 1, in addition to genetic testing and genetic counseling. Further patient follow-up was warranted with regard to blood pressure and health, although normal blood pressure and no local recurrence and distant metastasis of VHL were observed previously. The present study suggests that molecular genetic testing may aid the diagnosis and clinical management of VHL syndrome. AD - Department of Urologic Surgery, The 117th PLA Hospital, Hangzhou, Zhejiang 310013, P.R. China Department of Cell Biology and Medical Genetics, Research Center of Molecular Medicine, Institute of Cell Biology, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, P.R. China Department of Urologic Surgery, The 175th PLA Hospital, Zhangzhou, Fujian 363000, P.R. China Department of Urologic Surgery, First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310003, P.R. China AU - Qi,Xiao-Ping AU - Liu,Wen-Ting AU - Li,Jin-Yu AU - Dai,Yun AU - Ma,Ju-Ming AU - Zhao,Yan AU - Fei,Jun AU - Li,Feng AU - Shen,Mao AU - Jin,Hang-Yang AU - Chen,Zhen-Guang AU - Du,Zhen-Fang AU - Chen,Xiao-Ling AU - Zhang,Xian-Ning DA - 2013/09/01 DO - 10.3892/mmr.2013.1578 EP - 805 IS - 3 JO - Mol Med Rep KW - pheochromocytoma renal cell carcinoma VHL gene von Hippel-Lindau syndrome PY - 2013 SN - 1791-2997 1791-3004 SP - 799 ST - p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees T2 - Molecular Medicine Reports TI - p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees UR - https://doi.org/10.3892/mmr.2013.1578 VL - 8 ER -