Endocrine Abstracts

Background: Genetic alterations underlying the pathogenesis of autonomous cortisol secretion and early adrenocortical tumorigenesis have been identified in 40% of adrenocortical tumors (ACT). Nonetheless, the molecular events leading to development of ACT and steroid secretion remain obscure for a large proportion of patients.Aim: Aims of our study were to investigate the relationship between transcriptome profile and genetic background in a large series...

Background: Adrenocortical cancer (ACC) is an aggressive tumour with heterogeneous prognosis. Recently integrated genomics reported distinct genomic alterations: transcriptome “C1A” (high expression of proliferation/cell cycle-related genes) vs “C1B”, “CIMP” (CpG islands hypermethylation) vs “non-CIMP”, chromosome alterations “Noisy” (numerous and anarchic alterations) vs “Chromosomal” (extended patterns of loss of he...

Genetic alterations affecting the PKA/cAMP pathway are commonly found in cortisol-producing adrenocortical adenomas (ACAs), while activating mutations in the gene coding for β-catenin (CTNNB1) have been reported in both adenomas and carcinomas. However, the molecular pathogenesis of most ACAs is still unclear. Aim of the study was a comprehensive genetic characterization of sporadic ACAs and the identification of novel molecular markers involved in adrenal tumori...

Recent pan-genomic analyses of tumor DNA identified specific patterns of DNA methylation –e.g. CpG islands hypermethylation in the promoter regions of genes- as pejorative prognostic markers in adrenocortical cancer (ACC). Integrated genomics clearly shows that ACC with such an hypermethylation belongs to specific subgroups of ACC with increased driver genes alterations and a poor survival.Aim: To confirm the prognostic value of this methylation pat...

Background: The prognosis of adrenocortical carcinomas (ACCs) is heterogeneous. Genome-wide methylation analysis of tumor DNA identified a sub-group of ACCs from the French COMETE network with CpG island hypermethylation evoking a CpG island methylator phenotype (CIMP). These ACCs are associated with a poorer prognosis (Barreau, JCEM 2013).The aim was to validate the prognostic value of CIMP in a large multicentric independent cohort from ENSAT (European...

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 ...