{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Hasanov E"],"funding":["NCI NIH HHS"],"pagination":["495-504"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8268068"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["30(5)"],"pubmed_abstract":["<h4>Introduction</h4>Von Hippel-Lindau (VHL) disease is an inherited autosomal dominant syndrome caused by a germline mutation and/or deletion of the <i>VHL</i> gene. Inappropriate hypoxia-inducible factor (HIF)-mediated transcription of proangiogenic and metabolic genes leads to the development of tumors and cysts in multiple organs. Surgery is a standard treatment for localized tumors with a risk of metastasis or organ dysfunction. Repeated surgeries cause substantial morbidity and have a major impact on quality of life. There is an urgent need to develop effective and safe systemic treatments for VHL disease manifestations. The small-molecule HIF 2 alpha inhibitor MK-6482 (belzutifan) has demonstrated significant efficacy in VHL disease related renal cell carcinomas, hemangioblastomas, "],"journal":["Expert opinion on investigational drugs"],"pubmed_title":["MK-6482 as a potential treatment for von Hippel-Lindau disease-associated clear cell renal cell carcinoma."],"pmcid":["PMC8268068"],"funding_grant_id":["P30 CA016672"],"pubmed_authors":["Jonasch E","Hasanov E"],"additional_accession":[]},"is_claimable":false,"name":"MK-6482 as a potential treatment for von Hippel-Lindau disease-associated clear cell renal cell carcinoma.","description":"<h4>Introduction</h4>Von Hippel-Lindau (VHL) disease is an inherited autosomal dominant syndrome caused by a germline mutation and/or deletion of the <i>VHL</i> gene. Inappropriate hypoxia-inducible factor (HIF)-mediated transcription of proangiogenic and metabolic genes leads to the development of tumors and cysts in multiple organs. Surgery is a standard treatment for localized tumors with a risk of metastasis or organ dysfunction. Repeated surgeries cause substantial morbidity and have a major impact on quality of life. There is an urgent need to develop effective and safe systemic treatments for VHL disease manifestations. The small-molecule HIF 2 alpha inhibitor MK-6482 (belzutifan) has demonstrated significant efficacy in VHL disease related renal cell carcinomas, hemangioblastomas, ","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 May","modification":"2025-04-25T16:53:07.072Z","creation":"2025-02-18T23:32:14.308Z"},"accession":"S-EPMC8268068","cross_references":{"pubmed":["33945366"],"doi":["10.1080/13543784.2021.1925248"]}}