ReviewTumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine2012
Role of VHL gene mutation in human renal cell carcinoma.
Review in Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers.
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Who cites it
48 citing papers in PubMed, 92 citations in OpenAlex.
- Review
- Downregulation of ankyrin 3 (ANK3) promotes malignant behaviors associated with altered adhesion dynamics and actin cytoskeleton remodeling in renal cell carcinoma.Cell and tissue research · 2025Article
- Article
- HIF-1 and HIF-2 in cancer: structure, regulation, and therapeutic prospects.Cellular and molecular life sciences : CMLS · 2025Review
- Pazopanib-induced trismus in a young male with metastatic renal cell carcinoma: a case report and literature review.Oxford medical case reports · 2024Article
- Artificial Intelligence in Renal Cell Carcinoma Histopathology: Current Applications and Future Perspectives.Diagnostics (Basel, Switzerland) · 2023Review
- Primary cilia: a novel research approach to overcome anticancer drug resistance.Frontiers in molecular biosciences · 2023Review
- Life-Saver or Undertaker: The Relationship between Primary Cilia and Cell Death in Vertebrate Embryonic Development.Journal of developmental biology · 2022Review
- Novel Prognosis and Therapeutic Response Model of Immune-Related lncRNA Pairs in Clear Cell Renal Cell Carcinoma.Vaccines · 2022Article
- Tumor-to-tumor metastasis of clear cell renal cell carcinoma to contralateral synchronous pheochromocytoma: A case report.World journal of clinical cases · 2022Article
- RGMQL: scalable and interoperable computing of heterogeneous omics big data and metadata in R/Bioconductor.BMC bioinformatics · 2022Article
- Primary cilium in kidney development, function and disease.Frontiers in endocrinology · 2022Review
- SHARPIN regulates the development of clear cell renal cell carcinoma by promoting von Hippel-Lindau protein ubiquitination and degradation.Cancer science · 2021Article
- The Role of Selected Natural Biomolecules in Sperm Production and Functionality.Molecules (Basel, Switzerland) · 2021Review
- Identification of CCL4 as an Immune-Related Prognostic Biomarker Associated With Tumor Proliferation and the Tumor Microenvironment in Clear Cell Renal Cell Carcinoma.Frontiers in oncology · 2021Article
- Exploring the Spectrum of Kidney Ciliopathies.Diagnostics (Basel, Switzerland) · 2020Review
- Epigenetic crosstalk between hypoxia and tumor driven by HIF regulation.Journal of experimental & clinical cancer research : CR · 2020Review
- Androgen receptor modulates metastatic routes of VHL wild-type clear cell renal cell carcinoma in an oxygen-dependent manner.Oncogene · 2020Article
- Clinical diagnosis, treatment and screening of the VHL gene in three von Hippel-Lindau disease pedigrees.Experimental and therapeutic medicine · 2020Article
- Gene Expression and Co-expression Networks Are Strongly Altered Through Stages in Clear Cell Renal Carcinoma.Frontiers in genetics · 2020Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Von Hippel-Lindau (VHL) is an inherited neoplasia syndrome caused by the inactivation of VHL tumor suppressor gene, and somatic mutation of this gene has been related to the development of sporadic clear cell renal carcinoma. The affected individuals are at higher risk for the development of tumor in other organs, which include pheochromocytomas, retinal angioma, pancreatic cysts, and CNS hemangioblastomas. The VHL mRNA encodes a protein (pVHL) that contains 213 amino acid residues which migrate with an apparent molecular weight of 24 to 30 kDa. The VHL gene protein has multiple functions that are linked to tumor suppression, but the best recognized and evidently linked to the development of renal cell carcinoma (RCC) is inhibition of hypoxia-inducible factor (HIF), as well as plays a role in targeting HIF for ubiquitin-mediated degradation. Aberrations in VHL's function, either through mutation or promoter hypermethylation, lead to the accumulation of HIF, which will transcriptionally upregulate a sequence of hypoxia responsive genes, including epidermal growth factor, vascular endothelial growth factor, platelet-derived growth factor, and other proangiogenic factors, resulting in upregulated blood vessel growth, one of the prerequisites of a tumor. HIF plays a critical role in pVHL-defective tumor formation, raising the possibility that drugs directed against HIF or its downstream targets (such as vascular endothelial growth factor) may one day play a role in the treatment of RCC. Moreover, a number of drugs have been developed that target HIF-responsive gene products, many of these targeted therapies have demonstrated significant activity in kidney cancer clinical trials and signify substantive advances in the treatment of this disease.
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