Heather Christofk, PhD

One of the most common kidney cancer syndromes is called HLRCC.  Individuals with HLRCC are at risk for developing highly lethal kidney cancer, painful skin tumors, and fibroids.  Better cancer prevention and treatment strategies are needed for HLRCC patients.  HLRCC is caused by a mutation in a gene involved in metabolism.  We found that the tumors that form in HLRCC patients have a unique metabolism that is reliant on the purine salvage pathway.  Medicines have already been developed to block the purine salvage pathway, and one such medication, called 6MP, is currently used to treat patients with other types of cancer or autoimmune diseases.  We found that HLRCC tumors are highly sensitive to 6MP treatment, and now propose to conduct a Phase 1 clinical trial to test safety and dosing of 6MP in HLRCC patients.  We also propose to examine ways to prevent kidney cancer formation in HLRCC patients.  This proposed research could have a huge impact on the lives of HLRCC patients through enabling clinical translation of a promising approach to treat their cancer and reveal effective cancer prevention strategies in this vulnerable patient population.