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REVIEW |
1 INSERM U567 and CNRS UMR 8104, Institut Cochin, Paris, France, 2 Institute of Endocrine Sciences, Ospedale Maggiore of Milan, IRCCS, University of Milan, Italy and 3 Service des Maladies Endocriniennes et Métaboliques, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Université Paris V and European Network for the Study of Adrenal Tumours (ENSAT), Paris, France
(Correspondence should be addressed to J Bertherat, Service des Maladies Endocriniennes et Métaboliques, Hôpital Cochin, Pavillon Cornil, 27 Rue du Faubourg Saint-Jacques, 75014, Paris, France; Email: jerome.bertherat{at}cch.ap-hop-paris.fr)
Abstract
Adrenal masses can be detected in up to 4% of the population, and are mostly of adrenocortical origin. Adrenocortical tumours (ACTs) may be responsible for excess steroid production and, in the case of adrenocortical cancers, for morbidity or mortality due to tumour growth. Our understanding of the pathogenesis of ACTs is more limited than that for other tumours. However, studies of the genetics of ACTs have led to major advances in this field in the last decade. The identification of germline molecular defects in the hereditary syndrome responsible for ACTs has facilitated progress. Indeed, similar molecular defects have since been identified as somatic alterations in sporadic tumours. The familial diseases concerned are Li–Fraumeni syndrome, which may be due to germline mutation of the tumour-suppressor gene TP53 and Beckwith–Wiedemann syndrome, which is caused by dys-regulation of the imprinted IGF-II locus at 11p15. ACTs also occur in type 1 multiple endocrine neoplasia (MEN 1), which is characterized by a germline mutation of the menin gene. Cushing’s syndrome due to primary pigmented nodular adrenocortical disease (PPNAD) has been observed in Carney complex patients presenting inactivating germline PRKAR1A mutations. Interestingly, allelic losses at 17p13 and 11p15 have been demonstrated in sporadic adrenocortical cancer and somatic PRKAR1A mutations have been found in secreting adrenocortical adenomas. More rarely, mutations in Gs protein (gsp) and the gene for ACTH receptor have been observed in ACTs. The genetics of another group of adrenal diseases that can lead to adrenal nodular hyperplasia – congenital adrenal hyperplasia (CAH) and glucocorticoid-remediable aldosteronism (GRA) – have also been studied extensively. This review summarizes recent advances in the genetics of ACTs, highlighting both improvements in our understanding of the pathophysiology and the diagnosis of these tumours.
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