Patients with advanced non-clear cell renal cell carcinoma (RCC) have a high prevalence of germline mutations, including some that could be used to guide therapy, researchers have reported in JAMA Oncology (2018; 4:1228-35).
More than 20% of the non-clear cell RCC patients had a hereditary mutation, and about half of those were in specific genes, FH and MET, that could be used to direct systemic treatment or to indicate eligibility for clinical trials, said researcher Maria I. Carlo, MD, of Memorial Sloan Kettering Cancer, New York.
These findings suggest that regardless of family history, patients with advanced non-clear cell RCC should be referred to a cancer geneticist to at least consider germline testing, Dr. Carlo said in an interview with Urology Times.
"There is still more research to be done to clarify which subgroups of non-clear cell should be referred,” she said in the interview, “but I think it's definitely reasonable to have a discussion with all patients with non-clear cell RCC, knowing you'll have a higher prevalence of mutations."
The study, believed to be the first to evaluate prevalence of germline mutations in a large cohort of patients with advanced RCC, included 254 patients seen in medical oncology or urology clinics who agreed to testing and disclosure of the results.
Top-line results showed that 41 of those patients (16.1%) had any germline mutation, and of those, 14 (5.5%) were mutations in RCC-associated genes, Dr. Carlo and co-investigators reported.