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Profile Name | VHL mutant |
Gene Variant Detail | |
Relevant Treatment Approaches |
Molecular Profile | Indication/Tumor Type | Response Type | Relevant Treatment Approaches | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|---|
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... | |
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 | 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 | islet cell tumor | sensitive | Belzutifan | Guideline | Actionable | Welireg (belzutifan) is included in guidelines for patients with well-differentiated Grade 1/2 progressive pancreatic neuroendocrine tumors harboring germline VHL mutations (NCCN.org). | detail... | |
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... |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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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) | Recruiting | CAN | 0 |
NCT02693535 | Phase II | Cobimetinib + Vemurafenib Atezolizumab + Talazoparib Regorafenib Larotrectinib Trastuzumab + Tucatinib Ipilimumab + Nivolumab Palbociclib Afatinib Entrectinib Talazoparib Pembrolizumab Temsirolimus Pertuzumab + Trastuzumab Atezolizumab + Pertuzumab/trastuzumab/hyaluronidase-zzxf 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 (TAPUR) | Recruiting | USA | 0 |
NCT04068831 | Phase II | Avelumab + Talazoparib | Talazoparib and Avelumab in Participants With Metastatic Renal Cell Carcinoma | Recruiting | USA | 0 |
NCT02108002 | Phase I | Vorinostat | Effect of Vorinostat on Nervous System Hemangioblastomas in Von Hippel-Lindau Disease (Missense Mutation Only) | Completed | USA | 0 |
NCT03091192 | Phase III | Sunitinib Savolitinib | Savolitinib vs. Sunitinib in MET-driven PRCC. | Active, not recruiting | USA | ITA | FRA | 4 |
NCT04895748 | Phase I | DFF332 + PBF-509 + Spartalizumab DFF332 + Everolimus DFF332 | DFF332 as a Single Agent and in Combination With Everolimus & Immuno-Oncology Agents in Advanced/Relapsed Renal Cancer & Other Malignancies | Recruiting | USA | ITA | FRA | ESP | 3 |
NCT03401788 | Phase II | Belzutifan | A Phase 2 Study of Belzutifan (PT2977, MK-6482) for the Treatment of Von Hippel Lindau (VHL) Disease-Associated Renal Cell Carcinoma (RCC) (MK-6482-004) | Active, not recruiting | USA | FRA | 2 |
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 | USA | 0 |