Evidence map›Paper›PMID 24678776›Full record

ArticleJournal of neurosurgery2014

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

Xinghua Ding, Chao Zhang, Jason M Frerich, Anand Germanwala, Chunzhang Yang, Russell R Lonser, Ying Mao, Zhengping Zhuang, Mingguang Zhang

Open access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of neurosurgery, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 41% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 7 citations in OpenAlex.

  1. Review
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 5 institutions in 2 countries.

Xinghua Ding *Department of Neurosurgery, Huashan Hospital, Fudan University, Shanghai, People's Republic of China.
Chao Zhang *Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland.
Jason M FrerichSurgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland.
Anand GermanwalaSurgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland.
Chunzhang YangSurgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland.
Russell R LonserDepartment of Neurological Surgery, The Ohio State University, Columbus, Ohio.
Ying MaoDepartment of Neurosurgery, Huashan Hospital, Fudan University, Shanghai, People's Republic of China.
Zhengping ZhuangSurgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland.
Mingguang ZhangDepartment of Neurosurgery, Huashan Hospital, Fudan University, Shanghai, People's Republic of China.
National Institute of Neurological Disorders and Stroke · USHuashan Hospital · CNNational Institutes of Health · USFudan University · CNThe Ohio State University · US

Funding

Molecular Pathogenesis of NeoplasiaZIANS003052 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI HEISS, JOHN · 2009 to 2025
$20.7M
Neuro-oncology of Familial Neoplasia SyndromesZIANS003053 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI CHITTIBOINA, PRASHANT · 2009 to 2025
$14.9M
Intramural NIH HHS Z99 NS999999
6 · The paper itself

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.

Indexed as

BrainBrain NeoplasmsFemaleGerm-Line MutationHemangioblastomaHumansNeurosurgical ProceduresPedigreePhenotypevon Hippel-Lindau DiseaseVon Hippel-Lindau Tumor Suppressor ProteinYoung AdultVon Hippel-Lindau Tumor Suppressor Proteinde novo mutationHB = hemangioblastomahemangioblastomaoncologypVHL = VHL proteinRCC = renal cell carcinomaVHL = von Hippel-Lindauvon Hippel-Lindau disease

Identifiers

PMID24678776
PMCPMC4749034
OpenAlexW2080534208

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.