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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||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||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||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||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...|