Prevalence and clinical features of armadillo repeat-containing 5 mutations carriers in a single center cohort of patients with bilateral adrenal incidentalomas

Our work provides interesting information both for the finding of a high prevalence of germline armadillo repeat-containing 5 (ARMC5) pathogenic variants in patients with bilateral adrenal incidentalomas and mild autonomous cortisol secretion and, above all, for the novel detection of somatic mutations in the adrenal tissue of patients without germline ARMC5 pathogenic variants. Although the sample size of our cohort is quite small, due to the monocentric nature of the study, a thorough genetic analysis was performed associated with an extensive hormonal, clinical, and comorbidity assessment. We think that these findings can stimulate in the future further studies to elucidate the pathophysiological role of somatic ARMC5 variants in the adrenal tumor development in otherwise wild-type patients and the possible clinical implications.