Molecular Profile Detail

Profile Name VHL inact mut
Gene Variant Detail

VHL inact mut (loss of function)

Relevant Treatment Approaches mTORC1 Inhibitor VEGFR Inhibitor (Pan) VEGFR2 Inhibitor

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Molecular Profile Indication/Tumor Type Response Type Relevant Treatment Approaches Therapy Name Approval Status Evidence Type Efficacy Evidence References
VHL inact mut clear cell renal cell carcinoma conflicting PT2399 Preclinical - Pdx Actionable In a preclinical study, PT2399 had variable impact on tumor growth in clear cell renal cell carcinoma (ccRCC) cell line and patient-derived xenograft (PDX) models with defective VHL, with decreased tumor growth in a VHL-defective ccRCC PDX model and some VHL-defective ccRCC cell line xenograft models, and no tumor suppression in other cell line xenograft models (PMID: 27595393). 27595393
VHL inact mut renal cell carcinoma predicted - sensitive VEGFR Inhibitor (Pan) Alpha 2 Interferon + Bevacizumab Clinical Study - Cohort Actionable In a retrospective analysis, VHL alterations did not impact overall survival or objective response in renal cell carcinoma patients treated with a VEGF-targeted therapy, including Avastin (bevacizumab) and Alpha 2 Interferon combination therapy, but were associated with a prolonged time to progression (PMID: 16827904). 16827904
VHL inact mut renal cell carcinoma no benefit GDC-0980 Phase II Actionable In a retrospective analysis from a Phase II clinical trial, patients with metastatic renal cell carcinoma treated with Apitolisib (GDC-0980) had no difference in progression free survival when stratified by the presence (n=5) or absence (n=17) of deleterious VHL mutations (PMID: 26951309). 26951309
VHL inact mut renal cell carcinoma predicted - sensitive mTORC1 Inhibitor Everolimus Phase II Actionable In a retrospective analysis from a Phase II clinical trial, patients with metastatic renal cell carcinoma treated with Afinitor (everolimus) had a trend towards improved in progression free survival when stratified by the presence (median PFS=8.6 months, n=15) or absence (median PFS=5.5 months, n=16) of deleterious VHL mutations (PMID: 26951309). 26951309
Clinical Trial Phase Therapies Title Recruitment Status
NCT03108066 Phase II PT2385 PT2385 for the Treatment of Von Hippel-Lindau Disease-Associated Clear Cell Renal Cell Carcinoma Active, not recruiting