Endocrine Abstracts

Mitogen-activated protein kinase (MAPK) pathway abnormalities, specifically rearrangements (RET/PTC) or activating mutations (RAS or BRAF), are highly prevalent in papillary thyroid carcinomas (PTCs). Constitutive activation of this signaling cascade causes sustained phosphorylation of extracellular signal-regulated kinase (ERK). DUSP5, which is positively regulated by ERK signaling, acts as a negative regulator of its activity. We have previously shown that DUSP5 is overexpre...

ACTH-independent macronodular hyperplasia (AIMAH) affects both adrenals, and familial forms are reported, suggesting a genetic origin. Rare mutations have been reported in several genes, including Gs alpha (GNAS), Phosphodiesterase 11A (PDE11A), Fumarate Hydratase (FH), and the Glucocorticoids receptor (GR).Objective: To assess the prevalence known genes mutations, and identify new candidate genes in AIMAH.Design and methods: Germl...

Introduction: DNA methylation is a mechanism for gene expression dysregulation in cancer. Little is known about methylation in adrenocortical tumors (ACT). Previous transcriptome studies proposed an original classification of ACT, first discriminating carcinomas from adenomas, then separating the carcinomas in two groups with different prognosis (C1A and C1B), the poor outcome group (C1A) being divided in three subgroups: p53 inactivation sub-group (C1Ap53), β-catenin act...