ArticleOncotarget2017
Genotype-phenotype correlations in Chinese von Hippel-Lindau disease patients.
Article in Oncotarget, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.
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Who cites it
19 citing papers in PubMed, 2 syntheses or guidelines pooled it, 30 citations in OpenAlex.
- The genetic differences between types 1 and 2 in von Hippel-Lindau syndrome: comprehensive meta-analysis.BMC ophthalmology · 2024Pooled it
- A meta-analysis of different von Hippel Lindau mutations: are they related to retinal capillary hemangioblastoma?Molecular genetics and genomics : MGG · 2022Pooled it
- Dysregulation of the ubiquitin-proteasome system in von Hippel-Lindau syndrome: molecular insights and clinical perspectives.Clinical and experimental medicine · 2025Review
- Factors that predict progression of von Hippel-Lindau disease-related malignancy: a longitudinal cohort study.BMC cancer · 2025Article
- Pathogenicity of germline VHL variants is associated with renal cell carcinoma size in von Hippel-Lindau disease.Archives of endocrinology and metabolism · 2025Article
- Trigeminal nerve hemangioblastoma in the setting of undiagnosed von Hippel-Lindau disease: illustrative case.Journal of neurosurgery. Case lessons · 2024Article
- Metabolomic landscape of renal cell carcinoma in von Hippel-Lindau syndrome in a Chinese cohort.iScience · 2024Article
- Review
- Metastatic Pheochromocytoma Diagnosed withWorld journal of nuclear medicine · 2022Article
- Intronic mutation of the VHL gene associated with central nervous system hemangioblastomas in two Chinese families with Von Hippel-Lindau disease: case report.BMC medical genetics · 2020Article
- Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.PloS one · 2020Article
- Clinical characteristics and genetic testing of an atypical familial von Hippel-Lindauzon renal cell carcinoma.Annals of translational medicine · 2019Article
- Repurposing propranolol as an antitumor agent in von Hippel-Lindau disease.Journal of neurosurgery · 2019Article
- New Insights Into Pheochromocytoma Surveillance of Young Patients WithJournal of the Endocrine Society · 2019Article
- Hemangioblastoma Instead of Renal Cell Carcinoma Plays a Major Role in the Unfavorable Overall Survival of Von Hippel-Lindau Disease Patients.Frontiers in oncology · 2019Article
- Frequent Mutations of VHL Gene and the Clinical Phenotypes in the Largest Chinese Cohort With Von Hippel-Lindau Disease.Frontiers in genetics · 2019Article
- Genotype and phenotype correlation in von Hippel-Lindau disease based on alteration of the HIF-α binding site in VHL protein.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Novel genotype-phenotype correlations in five Chinese families with Von Hippel-Lindau disease.Endocrine connections · 2018Article
- Genotype phenotype correlation in Asian Indian von Hippel-Lindau (VHL) syndrome patients with pheochromocytoma/paraganglioma.Familial cancer · 2018Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
Abstract
von Hippel-Lindau (VHL) disease is caused by mutations in the VHL gene and demonstrates marked phenotypic variability. Genotype-phenotype correlations in Chinese VHL patients have been unclear. To establish genotype-phenotype correlations in Chinese VHL patients, we collected VHL mutations and phenotypes of 291 patients with VHL disease from 115 unrelated families. Genotype-phenotype correlations at mutation type level, mutation region level, and mutation codon level were analyzed by Kaplan-Meier curves and Cox regression models. We found missense mutations conferred an increased risk of pheochromocytoma developments, but a decreased risk of central nervous system hemangioblastomas (CHBs) and pancreatic lesions. Patients with VHL deletions were more prone to developing retinal angiomas. Renal cell carcinomas were more frequent in nonsense, frameshift or splice-site mutations. Mutations in Exon 2 conferred a higher risk and earlier diagnostic age of CHBs than mutations in other exons (HR = 1.684, 95% CI 1.082-2.620, p = 0.021; 27.0 ± 9.7 years versus 32.8 ± 11.7 years, p = 0.024), while patients with mutations in Exon 3 were more prone to developing pheochromocytomas (HR = 2.760, 95% CI 1.419-5.370, p = 0.003). Mutations at codon 80 or codon167 conferred significantly higher risks of pheochromocytomas than other mutations (HR = 4.678, 95% CI 1.392-15.724, p = 0.013; HR = 4.683, 95% CI 2.515-8.719, p < 0.001 respectively). In conclusion, VHL mutation types, mutation regions and mutation codons can act as phenotypic predictors of VHL disease. Mutation regions and mutation codons may aid in directed surveillance and monitoring of VHL patients.
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