A new study found that “further testing in renal cell carcinoma with an overexpression of gene TRIM63 could uncover a mutation otherwise undetected, leading to more treatment options for patients.”
A certain kind of kidney cancer called microphthalmia-associated transcription factor renal cell carcinoma (MiTF RCC) is “typically diagnosed through a fluorescent in situ hybridization (FISH) test, which is used to detect the presence of certain DNA sequences and genetic alterations such as TFE3 and TFEB. The test uses fluorescent probes that bind to specific parts of the chromosomes and illuminate the genome.” However, the tests can “lead to false-negative results, potentially limiting beneficial clinical therapies, like clinical trials, for patients.”
The research team found that “some of the FISH-negative renal cell carcinomas, indicating they were negative for MiTF, still had suspicious biomarkers, which prompted curiosity about the underlying gene expression.” Some of those cases had an “overexpression of gene TRIM63 despite the negative FISH test.” Using additional genomic testing, the team “found 20 cases where tumors were positive for TRIM63 on a biomarker level, but FISH negative.”
These findings suggest that “further testing of FISH-negative assays could lead to more definitive and accurate diagnoses of potentially aggressive disease.”
