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.
authors.affiliation: Department of Neurosurgery, Huashan Hospital, Fudan University, Shanghai, People's Republic of China.
authors.forename: Xinghua
authors.initials: X
authors.lastname: Ding
authors.affiliation: Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland.|Department of Orthopedics, Xinqiao Hospital, The Third Military Medical University, Chong Qing, People's Republic of China.
authors.forename: Chao
authors.initials: C
authors.lastname: Zhang
authors.affiliation: Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland.
authors.forename: Jason M
authors.initials: JM
authors.lastname: Frerich
authors.affiliation: Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland.
authors.forename: Anand
authors.initials: A
authors.lastname: Germanwala
authors.affiliation: Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland.
authors.forename: Chunzhang
authors.initials: C
authors.lastname: Yang
authors.affiliation: Department of Neurological Surgery, The Ohio State University, Columbus, Ohio.
authors.forename: Russell R
authors.initials: RR
authors.lastname: Lonser
authors.affiliation: Department of Neurosurgery, Huashan Hospital, Fudan University, Shanghai, People's Republic of China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Mao
authors.affiliation: Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland.
authors.forename: Zhengping
authors.initials: Z
authors.lastname: Zhuang
authors.affiliation: Department of Neurosurgery, Huashan Hospital, Fudan University, Shanghai, People's Republic of China.
authors.forename: Mingguang
authors.initials: M
authors.lastname: Zhang
mesh_terms: D001921:Brain / Q000473:pathology / Q000601:surgery; D001932:Brain Neoplasms / Q000209:etiology / Q000235:genetics / Q000601:surgery; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D018325:Hemangioblastoma / Q000209:etiology / Q000235:genetics / Q000601:surgery; D006801:Humans; D019635:Neurosurgical Procedures / Q000379:methods; D010375:Pedigree; D010641:Phenotype; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*; D055815:Young Adult; D006623:von Hippel-Lindau Disease / Q000235:genetics* / Q000473:pathology / Q000601:surgery
chemical_list: D051794:Von Hippel-Lindau Tumor Suppressor Protein
keywords: HB = hemangioblastoma; RCC = renal cell carcinoma; VHL = von Hippel-Lindau; de novo mutation; hemangioblastoma; oncology; pVHL = VHL protein; von Hippel-Lindau disease