Background
- Recently, first-in-class FDA approval was granted in the U.S. for use of the gamma secretase inhibitor (GSI), nirogacestat, for adults with progressive desmoid fibromatosis (DES)1.
- The unpredictable clinical behavior of desmoids, which ranges from local aggression to regression2, raises consideration of whether diagnostic and molecular variability underlie their varying biological potential.
- With an aim to understand both, and to explore the potential for biomarkers for GSI therapy selection, prediction, and prognosis, we performed a retrospective review of comprehensive genomic profiling and histology of desmoids and other soft tissue tumors (STT) harboring CTNNB1 or APC mutations.