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Published on: September 15, 2017
The genetics of adrenocortical tumors
Stéphanie Espiard1, Jérôme Bertherat2
1Cochin 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.
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.
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