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Molecular genetics of adrenocortical tumours, from familial to sporadic diseases
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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“Perturbation of the IGF2 locus, with upregulation of maternally imprinted genes (IGF2), and downregulation of paternally imprinted genes (H19 and CDKN1C), is frequently observed in ACCs (226).”
From Adrenocortical carcinoma (2014) · cites this paper as [226]
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Self-citation
Metadata
- Authors
- Libé, R., & Bertherat, J.
- Venue
- European Journal of Endocrinology
- Publisher
- Oxford University Press (OUP)
- Published
- 2005-10
- Volume
- 153
- Issue
- 4
- Pages
- 477-487
- ISSN
- 0804-4643 (ISSN-L)
- 1479-683X
- OpenAlex
- W2171162119
- Cited by
- 168
- References
- 106
- Citations by year
- 2025: 1 · 2024: 1 · 2023: 1 · 2022: 3 · 2021: 4 · 2020: 3 · 2019: 6 · 2018: 8 · 2017: 5 · 2016: 8 · 2015: 11 · 2014: 14 · 2013: 6 · 2012: 13
- FWCI
- 2.36
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- European Journal of Endocrinology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Surgery › Adrenal and Paraganglionic Tumors
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
- Keywords
- adrenocortical tumors, adrenocortical carcinoma, adrenal adenoma, Li-Fraumeni syndrome, TP53, Beckwith-Wiedemann syndrome, multiple endocrine neoplasia type 1, Carney complex, PRKAR1A mutation, Cushing's syndrome, primary pigmented nodular adrenocortical disease, loss of heterozygosity, 17p13, 11p15, ACTH receptor, adrenal nodular hyperplasia, congenital adrenal hyperplasia, glucocorticoid-remediable aldosteronism, hereditary cancer, somatic mutations
- MeSH terms
- Adrenal Cortex Neoplasms, Humans, Molecular Biology
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