title: The genetics of adrenocortical tumors.
abstract: Advances in genomics accelerated greatly progress in the study of the genetics adrenocortical tumors. Bilateral nodular hyperplasias causing Cushing's syndrome are frequently caused by germline alterations leading to cAMP/PKA pathway activation (micronodular) and ARMC5 inactivation (macronodular). Somatic mutations of β-catenin and PRKACA are observed in non secreting or cortisol producing adenomas, respectively. Alterations of the β-catenin (CTNN1B, ZNFR3) or TP53 pathways are found in carcinomas. Mutations in cancers are more common in aggressive tumors and correlate with transcriptome or methylation profiles. Identification of these alterations helps to refine the molecular classification of these tumors and to develop molecular diagnostic tools.
authors.affiliation: Cochin Institut, INSERM U1016, 24 rue du Faubourg Saint Jacques, Paris 75014, France; Cochin Institut, CNRS UMR8104, 24 rue du Faubourg Saint-Jacques, Paris 75014, France; Paris Descartes University, 12 rue de l'Ecole de Médecine, Paris 75006, France.
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Espiard
authors.affiliation: Cochin Institut, INSERM U1016, 24 rue du Faubourg Saint Jacques, Paris 75014, France; Cochin Institut, CNRS UMR8104, 24 rue du Faubourg Saint-Jacques, Paris 75014, France; Paris Descartes University, 12 rue de l'Ecole de Médecine, Paris 75006, France; Endocrinology Department, Center for Rare Adrenal Diseases, Hôpital Cochin, Assistance Publique Hôpitaux de Paris, 27 Rue du Fg-St-Jacques, Paris F-75014, France. Electronic address: jerome.bertherat@cch.aphp.fr.
authors.forename: Jérôme
authors.initials: J
authors.lastname: Bertherat
mesh_terms: D000306:Adrenal Cortex Neoplasms / Q000235:genetics*; D018246:Adrenocortical Adenoma / Q000235:genetics*; D018268:Adrenocortical Carcinoma / Q000235:genetics*; D051186:Armadillo Domain Proteins; D017868:Cyclic AMP-Dependent Protein Kinases / Q000235:genetics; D006801:Humans; D015398:Signal Transduction / Q000235:genetics; D016159:Tumor Suppressor Protein p53 / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics; D044767:Ubiquitin-Protein Ligases / Q000235:genetics; D060449:Wnt Signaling Pathway / Q000235:genetics; D051176:beta Catenin / Q000235:genetics
chemical_list: C000590373:ARMC5 protein, human; D051186:Armadillo Domain Proteins; C495270:CTNNB1 protein, human; C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53; D025521:Tumor Suppressor Proteins; D051176:beta Catenin; D044767:Ubiquitin-Protein Ligases; C572950:ZNRF3 protein, human; D017868:Cyclic AMP-Dependent Protein Kinases
keywords: ARMC5; Adrenal cortex; Cancer; Cushing syndrome; IGF2; PKA; TP53; Wnt/β-catenin