De novo VHL germline mutation detected in a patient with mild clinical phenotype of von Hippel-Lindau disease Journal Article

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Authors: Ding, X; Zhang, C; Frerich, J. M.; Germanwala, A; Yang, C.; Lonser, R. R.; Mao, Y.; Zhuang, Z.; Zhang, M
Article Title: De novo VHL germline mutation detected in a patient with mild clinical phenotype of von Hippel-Lindau disease
Abstract: Von Hippel-Lindau (VHL) disease is an autosomal dominant multiorgan tumor syndrome caused by a germline mutation in the VHL gene. Characteristic tumors include CNS hemangioblastomas (HBs), endolymphatic sac tumors, renal cell carcinomas, pheochromocytomas, and pancreatic neuroendocrine tumors. Sporadic VHL disease with a de novo germline mutation is rare. The authors describe a case of multiple CNS HBs in a patient with a heterozygous de novo germline mutation at c.239G>T [p.S80I] of VHL. This is the first known case of a sporadic de novo germline mutation of VHL at c.239G>T. Clinicians should continue to consider VHL disease in patients presenting with sporadic CNS HBs, including those without a family history, to confirm or exclude additional VHL-associated visceral lesions.
Journal Title: Journal of neurosurgery
Volume: 121
Issue: 2
ISSN: 1933-0693; 0022-3085
Publisher: Unknown  
Journal Place: United States
Date Published: 2014
Start Page: 384
End Page: 386
Language: eng
DOI/URL:

10.3171/2014.2.JNS131190
Notes: JID: 0253357; EC 6.3.2.19 (Von Hippel-Lindau Tumor Suppressor Protein); OTO: NOTNLM; 2014/03/28 [aheadofprint]; ppublish