USP8 mutations determine genes’ expression profile of pituitary corticotroph adenomas, regardless of tumor functional status.. USP8 mutations determine genes’ expression profile of pituitary corticotroph adenomas, regardless of tumor functional status.

The aim of the study was to compare genes’ expression profiles of functioning and silent corticotroph adenomas to investigate possible biological mechanism of different hormone secretion . Since USP8 is the best know driver gene mutated in large proportion of ACTH-omas we intended to verify whether the mutation occurs in SCAs and how it affects transcriptomic profile. Overall design: 20 samples were analyzed inclusding 8 silent corticotroph pituitary adenoma (SCA) samples and 12 functioning corticotroph pituitary adenoma (Cushing disease) samples. 2 of the SCA and 4 of the Cushing disease samples had mutated USP8 while the otheres were wild type.