Targeted sequencing of USP8 in pituitary cushing adenomas

We performed molecular testing of DNA isolated from single formalin-fixed and paraffin-embedded tissue sections of 42 pituitary adenomas from patients with Cushing's disease. By Sanger sequencing, we identified previously reported USP8 missense mutations in six tumors. Targeted next-generation sequencing revealed known or novel missense mutations in three additional tumors. We demonstrate that testing for USP8 variants can be performed from small amounts of FFPE tissue. Next-generation sequencing showed higher sensitivity for USP8 mutation detection than Sanger sequencing.