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Mosaicism in von Hippel-Lindau disease with severe renal manifestations
Wu, P.1; Zhang, N.2; Wang, X.1; Li, T.1; Ning, X.1; Bu, D.3; Gong, K.1
关键词Mosaicism Mutation Renal Cell Carcinoma Vhl Gene Von Hippel-lindau Disease
刊名CLINICAL GENETICS
2013-12-01
DOI10.1111/cge.12092
84期:6页:581-584
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Genetics & Heredity
研究领域[WOS]Genetics & Heredity
关键词[WOS]GERMLINE MUTATIONS ; SOMATIC MOSAICISM ; VHL GENE ; FREQUENCY ; LESSONS
英文摘要

von Hippel-Lindau (VHL) disease is an inheritable multisystem tumor syndrome characterized by multiple benign and malignant tumors affecting multiple organs. VHL is the result of a germline mutation in the VHL tumor suppressor gene. Molecular genomic analysis routinely confirms the clinical diagnosis. However, the use of molecular diagnostic methods can often be insufficient for the detection of mosaic germline VHL mutations, making the diagnosis of some cases of VHL difficult. Here, we report the case of a VHL mosaic patient with bilateral renal lesions in the absence of other VHL-associated lesions. A VHL mutation was not originally detected by routine molecular testing. Nonetheless, the detection of a heterozygous c.194C>G (p.Ser65Trp) VHL mutation in the patient′s daughter prompted further genetic assessment and eventually resulted in the finding of a mosaic c.194C>G (p.Ser65Trp) VHL mutation in the patient. The mutation rate was 18.8 +/- 3.84% in peripheral leukocytes. As the frequency of VHL mosaicism remains underdetermined, the possibility of a diagnosis of mosaic VHL should be considered in patients with both typical and atypical VHL-associated manifestations.

语种英语
WOS记录号WOS:000330092900011
项目编号30872560 ; 81172418
资助机构National Natural Science Foundation of China
引用统计
被引频次:4[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/54102
专题北京大学第一临床医学院_泌尿外科
北京大学医学部管理机构_医学部
北京大学第一临床医学院_病理科
北京大学第三临床医学院_骨科
作者单位1.Peking Univ, Hosp 1, Inst Urol, Dept Urol,Natl Urol Canc Ctr, Beijing 100034, Peoples R China
2.Capital Med Univ, Beijing Chaoyang Hosp, Dept Urol, Beijing, Peoples R China
3.Peking Univ, Hosp 1, Dept Cent Lab, Beijing 100034, Peoples R China
推荐引用方式
GB/T 7714
Wu, P.,Zhang, N.,Wang, X.,et al. Mosaicism in von Hippel-Lindau disease with severe renal manifestations[J]. CLINICAL GENETICS,2013,84(6):581-584.
APA Wu, P..,Zhang, N..,Wang, X..,Li, T..,Ning, X..,...&Gong, K..(2013).Mosaicism in von Hippel-Lindau disease with severe renal manifestations.CLINICAL GENETICS,84(6),581-584.
MLA Wu, P.,et al."Mosaicism in von Hippel-Lindau disease with severe renal manifestations".CLINICAL GENETICS 84.6(2013):581-584.
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