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学科主题: 临床医学
题名:
Mosaicism in von Hippel-Lindau disease with severe renal manifestations
作者: 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
发表日期: 2013-12-01
DOI: 10.1111/cge.12092
卷: 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
所属项目编号: 30872560 ; 81172418
项目资助者: National Natural Science Foundation of China
WOS记录号: WOS:000330092900011
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/54102
Appears in Collections:北京大学第一临床医学院_泌尿外科_期刊论文

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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

Recommended Citation:
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.
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