Endocrine Abstracts

Introduction: Alterations of the cAMP signaling pathway are described in adrenal tumors causing Cushing syndrome, specifically mutations in the gene coding for the protein kinase A (PKA) catalytic subunit alpha (PRAKCA) in cortisol producing adenomas (CPA) with overt Cushing syndrome.Materiel and Methods: Eight CPAs without PRKACA mutations were analyzed by whole exome sequencing. Direct sequencing of PRAKCB encoding for the catalytic subunit beta (C&#94...

Benign adrenal tumors correspond to a spectrum of distinct tumors, including uni- and bilateral diseases with distinct morphological features, and various steroid hormone secretion types and levels. The aim is to study this variability at the molecular level using pan-genomic approaches.Methods: One hundred and forty six benign adrenal tumors, including adrenocortical adenomas (ACA, N=), primary macronodular adrenal hyperplasia (PMAH, N=), and primary pi...

Background: Adrenocortical cancer (ACC) is an aggressive tumour with heterogeneous prognosis. Pan-genomic studies identified molecular subgroups of ACC, remarkably associated with outcome. For routine prospective use, targeted molecular measures are needed, combined into reasonably easy and cheap techniques. The aim was to develop and validate different combinations of targeted molecular markers reflecting the molecular subgroup, and compare their prognostic value to standard ...