Multigene Panel Testing in Identifying Hereditary Kidney Cancer
Retrospective study results, published in Cancer, suggest that multigene panel testing may be useful for patients who do not show distinguishing characteristics of hereditary kidney cancer. Kevin Nguyen, MS, of the Yale School of Medicine, New Haven, Connecticut, and colleagues concluded, “The current results support the use of early age of onset for genetic counseling and/or testing.”
Clinical data and test results from 1235 patients who underwent multigene panel testing of up to 19 genes associated with hereditary kidney cancer were retrospectively assessed. The median age at diagnosis was 46 years, which was significantly younger than the U.S. population of individuals with kidney cancer.
The investigators reviewed positive (6.1%), negative (75.5%), and inconclusive (18.4%) results. The most commonly altered genes were folliculin and fumarate hydratase, in 1.8% and 1.3% of patients, respectively. Moreover, early age of onset was the only predictive factor of a positive test on a multivariate analysis and may be the only identifying characteristic of low-penetrant syndromes, which tend to lack singular histology or a family history of kidney cancer.