The Genetics of Adrenocortical Tumors

• Autores: Stéphanie Espiard, Jérôme Bertherat
• Localización: Endocrinology and metabolism clinics of North America, ISSN 0889-8529, Vol. 44, Nº. 2, 2015 (Ejemplar dedicado a: Adrenal Cortical Neoplasia), págs. 311-334
• Idioma: inglés
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• Resumen

  • 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.