Molecular Profile Detail

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Profile Name VHL mutant
Gene Variant Detail

VHL mutant (unknown)

Relevant Treatment Approaches

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Molecular Profile Indication/Tumor Type Response Type Relevant Treatment Approaches Therapy Name Approval Status Evidence Type Efficacy Evidence References
VHL mutant renal cell carcinoma no benefit Unspecified VEGFR inhibitor Clinical Study - Meta-analysis Actionable In a meta-analysis of 6 clinical studies, VHL mutation status was not associated with overall response rate (relative risk=1.47, p=0.20), progression-free survival (HR=1.02, p=0.91), or overall survival (HR=0.80, p=0.21) in a total of 633 patients with renal cell carcinoma who received anti-VEGF therapies (PMID: 28103578). 28103578
VHL mutant renal cell carcinoma sensitive Everolimus Phase I Actionable In a Phase I study, Afinitor (everolimus), as compared to Apitolisib (GDC-0980), resulted in a greater progression free survival and overall survival in patients with renal cell carcinoma harboring VHL mutations (J Clin Oncol 32:5s, 2014 (suppl; abstr 4525)). detail...
VHL mutant islet cell tumor not applicable N/A Guideline Risk Factor Germline mutations in VHL result in von Hippel Lindau syndrome, which is associated with increased risk of developing pancreatic neuroendocrine tumors (NCCN.org). detail...
VHL mutant renal cell carcinoma predicted - sensitive Sunitinib Phase I Actionable In a Phase I trial, 33% (6/18) of renal cell carcinoma patients harboring a VHL mutation, as determined from archived patient specimens, demonstrated a partial response when treated with Sutent (sunitinib) (PMID: 22105611). 22105611
VHL mutant clear cell renal cell carcinoma not applicable N/A Guideline Risk Factor Germline mutations in VHL result in von Hippel Lindau syndrome, which is associated with increased risk of developing clear cell renal cancer (NCCN.org). detail...
Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries
NCT03297606 Phase II Bosutinib Palbociclib Vismodegib Ipilimumab + Nivolumab Cobimetinib + Vemurafenib Temsirolimus Olaparib Erlotinib Crizotinib Sunitinib Afatinib Dasatinib Pertuzumab + Trastuzumab Axitinib Canadian Profiling and Targeted Agent Utilization Trial (CAPTUR) (CAPTUR) Recruiting
NCT04068831 Phase II Avelumab + Talazoparib Talazoparib and Avelumab in Participants With Metastatic Renal Cell Carcinoma Recruiting
NCT02315625 Phase II Everolimus Sunitinib Study of Mutation-Targeted Therapy With Sunitinib or Everolimus in People With Advanced Low- or Intermediate-Grade Neuroendocrine Tumors of the Gastrointestinal Tract and Pancreas With or Without Cytoreductive Surgery Terminated
NCT02693535 Phase II Cobimetinib + Vemurafenib Regorafenib Ipilimumab + Nivolumab Palbociclib Afatinib Talazoparib Pembrolizumab Temsirolimus Pertuzumab + Trastuzumab Crizotinib Abemaciclib Sunitinib Olaparib TAPUR: Testing the Use of Food and Drug Administration (FDA) Approved Drugs That Target a Specific Abnormality in a Tumor Gene in People With Advanced Stage Cancer Recruiting
NCT03401788 Phase II PT 2977 A Phase 2 Study of MK-6482 (PT2977) for the Treatment of Von Hippel Lindau (VHL) Disease-Associated Renal Cell Carcinoma (RCC) (MK-6482-004) Active, not recruiting
NCT02108002 Phase I Vorinostat Effect of Vorinostat on Nervous System Hemangioblastomas in Von Hippel-Lindau Disease (Missense Mutation Only) Completed
NCT03091192 Phase III Sunitinib Savolitinib Savolitinib vs. Sunitinib in MET-driven PRCC. Active, not recruiting