Cushing’s disease due to somatic USP8 mutations: a systematic review and meta-analysis

Purpose Cushing’s disease (CD) is a severe illness generally caused by microcorticotropinomas (MICs) and in approximately 7–20% of patients by macrocorticotropinomas (MACs). USP8-mutations have been identified as a major genetic cause of CD (~ 50%). Few studies have reported the distribution between MICs–MACs related to USP8-mutations and their genotype–phenotype correlations. Therefore, we aimed to evaluate USP8-mutations in a cohort of MICs–MACs from a unique center and to perform a systematic review and meta-analysis.