Researchers have discovered that the presence of a specific genetic mutation indicates a low likelihood of bladder cancer recurrence. STAG2 mutations have been observed in a number of cancers, but when Todd Waldman, MD, PhD, a cancer geneticist at Georgetown Lombardi Comprehensive Cancer Center in Washington, D.C., and colleagues examined 2,214 human tumors from various body sites, they found that STAG2 was most commonly inactivated in bladder cancer. The investigators recorded truncating mutations of the STAG2 gene in 36% of the papillary noninvasive urothelial carcinomas and in 16% of the invasive urothelial carcinomas of the bladder.
These findings identify STAG2 as one of the most commonly mutated genes in bladder cancer, particularly in tumors that do not metastasize, Dr. Waldman’s group reported in online in Nature Genetics.
The researchers have developed what they describe as a simple test for pathologists to assess easily the STAG2 status of superficial bladder tumors, and are conducting a larger study to determine whether the test should enter routine clinical use for predicting the likelihood that these cases of low-risk bladder cancer will recur.