Cited by 168Adrenal and Paraganglionic TumorsAdrenal Hormones and DisordersChromatin Remodeling and Cancer

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Molecular genetics of adrenocortical tumours, from familial to sporadic diseases

Libé, Rossella, Bertherat, Jérôme·2005·European Journal of Endocrinology

DOI 10.1530/eje.1.02004

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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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Loss of Expression of the Ubiquitous Transcription Factor cAMP Response Element-Binding Protein (CREB) and Compensatory Overexpression of the Activator CREM in the Human Adrenocortical Cancer Cell Line H295R
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Complete Sequencing and Messenger Ribonucleic Acid Expression Analysis of the MEN I Gene in Adrenal Cancer1
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Assessing the Presence of Abnormal Regulation of Cortisol Secretion by Membrane Hormone Receptors:In VivoandIn VitroStudies in Patients with Functioning and Non-functioning Adrenal Adenoma
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Complete Sequencing and Messenger Ribonucleic Acid Expression Analysis of the MEN I Gene in Adrenal Cancer
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Ribonucleic Acid Expression of the Clustered Imprinted Genes, p57KIP2, Insulin-Like Growth Factor II, and H19, in Adrenal Tumors and Cultured Adrenal Cells
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[Aberrant expression of the GIP (Gastric Inhibitory Polypeptide) receptor in an adrenal cortical adenoma responsible for a case of food-dependent Cushing's syndrome].
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Self-citation
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Transcription Factor 3′,5′-Cyclic Adenosine 5′-Monophosphate-Responsive Element-Binding Protein (CREB) Is Decreased during Human Adrenal Cortex Tumorigenesis and Fetal Development
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Self-citation
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Self-citation
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Flagged first, then by citations

Research works printed but not linked: 21

Beuschlein, 1994, Cancer Research, 54, 4927
Mesiano, 1993, Journal of Clinical Endocrinology & Metabolism, 76, 968, 10.1210/jc.76.4.968 · DOI · Paper page
Gicquel, 1992, Journal of Clinical Endocrinology & Metabolism, 75, 472, 10.1210/jc.75.2.472 · DOI
Groussin, 2002, Journal of Clinical Endocrinology & Metabolism, 87, 1980, 10.1210/jc.87.5.1980 · DOI
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Kjellman, 1996, Cancer Research, 56, 4219
Sidhu, 2002, Journal of Clinical Endocrinology & Metabolism, 87, 3467, 10.1210/jc.87.7.3467 · DOI
Gicquel, 2001, Cancer Research, 61, 6762
Latronico, 2001, Journal of Clinical Endocrinology & Metabolism, 86, 4970, 10.1210/jc.86.10.4970 · DOI · Paper page
Reincke, 1994, Journal of Clinical Endocrinology & Metabolism, 78, 790, 10.1210/jc.78.3.790 · DOI
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Sorted by citations

Adrenocortical carcinoma
Else, T., Kim, A. C., Sabolch, A., Raymond, V. M., Kandathil, A., Caoili, E. M., Jolly, S., Miller, B. S., Giordano, T. J., & Hammer, G. D. (2014) · Endocrine Reviews · doi:10.1210/er.2013-1029 · Cited by 892
Adrenocortical Carcinoma: Clinical Update
Allolio, B., & Fassnacht, M. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-2639 · Cited by 775
Beyond Li Fraumeni Syndrome: Clinical Characteristics of Families With p53 Germline Mutations
Hagman, K. D. F., Noltner, K., Buzin, C. H., Gu, D., Wen, C. Y., Nguyen, V. Q., Han, J., Lowstuter, K. J., Longmate, J., Sommer, S. S., et al. (2009) · Journal of Clinical Oncology · doi:10.1200/jco.2008.16.6959 · Cited by 607
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment
Hampel, H., Bennett, R. L., Buchanan, A. H., Pearlman, R., & Wiesner, G. L. (2014) · Genetics in Medicine · doi:10.1038/gim.2014.147 · Cited by 606
Clinical and biological features in the prognosis of adrenocortical cancer: poor outcome of cortisol-secreting tumors in a series of 202 consecutive patients
Abiven, G., Coste, J., Groussin, L., Anract, P., Tissier, F., Legmann, P., Dousset, B., Bertagna, X., & Bertherat, J. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-2730 · Cited by 435
Self-citation

See all 168

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
DOI: 10.1530/eje.1.02004
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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Molecular genetics of adrenocortical tumours, from familial to sporadic diseases

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