Endocrine Abstracts

Background: Molecular mechanisms of malignant adrenocortical tumorigenesis remain elusive despite previous comprehensive genomic studies. Nonetheless, cellular heterogeneity of primary, recurrent and metastatic adrenocortical carcinoma (ACC) haven’t been fully investigated.Aim: To characterize the molecular profile of different cell subtypes in primary, recurrent and metastatic ACC by single-nuclei RNA sequencing (snRNA-Seq), using adult human norma...

BackgroundAdrenocortical carcinoma (ACC) is a rare but devastating tumour of the adrenal gland and the molecular mechanisms of pathogenesis remain incompletely understood. To gain novel insights into the cellular landscape of ACC, we compared single nuclei RNA sequencing (snRNA-seq) datasets from ACC and normal adrenal glands (NAGs).Methods: We isolated single nuclei from 12 ACC snap-frozen samples, including 6 primary tumours, 3 local r...

Background: Adrenocortical adenomas (ACA) can be associated with different degrees of cortisol excess. Genetic alterations in the cAMP/PKA pathway are observed in up to 60% of cases with overt Cushing syndrome (CS-ACA) and 15% of cases with mild autonomous cortisol secretion (MACS-ACA), while variants in the gene coding for β-catenin (CTNNB1) are more frequent in MACS-ACA and non-functioning adrenal tumours (NFAT). We aimed to test whether somatic variants could ...