Genetics of tumors of the adrenal cortex

Bonnet-Serrano, Fidéline; Bertherat, Jérôme

doi:10.1530/erc-17-0361

Cited by 80Adrenal and Paraganglionic TumorsChromatin Remodeling and CancerAdrenal Hormones and Disorders

Genetics of tumors of the adrenal cortex

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Bonnet-Serrano, Fidéline, Bertherat, Jérôme·2018·Endocrine Related Cancer

DOI 10.1530/erc-17-0361

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Abstract

This review describes the molecular alterations observed in the various types of tumors of the adrenal cortex, excluding Conn adenomas, especially the alterations identified by genomic approaches these last five years. Two main forms of bilateral adrenocortical tumors can be distinguished according to size and aspect of the nodules: primary pigmented nodular adrenal disease (PPNAD), which can be sporadic or part of Carney complex and primary bilateral macro nodular adrenal hyperplasia (PBMAH). The bilateral nature of the tumors suggests the existence of an underlying genetic predisposition. PPNAD and Carney complex are mainly due to germline-inactivating mutations of PRKAR1A , coding for a regulatory subunit of PKA, whereas PBMAH genetic seems more complex. However, genome-wide approaches allowed the identification of a new tumor suppressor gene, ARMC5 , whose germline alteration could be responsible for at least 25% of PBMAH cases. Unilateral adrenocortical tumors are more frequent, mostly adenomas. The Wnt/beta-catenin pathway can be activated in both benign and malignant tumors by CTNNB1 mutations and by ZNRF3 inactivation in adrenal cancer (ACC). Some other signaling pathways are more specific of the tumor dignity. Thus, somatic mutations of cAMP/PKA pathway genes, mainly PRKACA , coding for the catalytic alpha-subunit of PKA, are found in cortisol-secreting adenomas, whereas IGF-II overexpression and alterations of p53 signaling pathway are observed in ACC. Genome-wide approaches including transcriptome, SNP, methylome and miRome analysis have identified new genetic and epigenetic alterations and the further clustering of ACC in subgroups associated with different prognosis, allowing the development of new prognosis markers.

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Mutations in beta-catenin (CTNNB1) leading to constitutive activation of the Wnt signaling pathway are a frequent finding in benign and malignant adrenocortical tumors.
“Mutations in β -catenin (CTNNB1) leading to constitutive activation of the Wnt signaling pathway is a frequent finding in benign and malignant adrenocortical tumors (138).”
From Adrenal incidentaloma (2020) · cites this paper as [138]
Somatic activating mutations of PRKACA are implicated in up to 50% of patients with adenomas with clinical Cushing's syndrome, but not in adenomas producing less cortisol.
“Somatic activating mutations of protein kinase A catalytic subunit (PRKACA) has been implicated in up to 50% of patients with adenomas with clinical Cushing’s syndrome, but not in adenomas producing less cortisol (138,142,147).”
From Adrenal incidentaloma (2020) · cites this paper as [138]

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PRKACB and Carney Complex
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β-Catenin activation is associated with specific clinical and pathologic characteristics and a poor outcome in adrenocortical carcinoma
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Wnt/β-catenin and 3′,5′-cyclic adenosine 5′-monophosphate/protein kinase A signaling pathways alterations and somatic β-catenin gene mutations in the progression of adrenocortical tumors
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Wnt/β-catenin pathway activation in adrenocortical adenomas is frequently due to somatic CTNNB1-activating mutations, which are associated with larger and nonsecreting tumors: a study in cortisol-secreting and -nonsecreting tumors
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Identification of a CpG Island Methylator Phenotype in Adrenocortical Carcinomas
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Wnt/β-catenin signalling in adrenal physiology and tumour development
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Phosphodiesterase 11A (PDE11A) and Genetic Predisposition to Adrenocortical Tumors
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DNA Methylation Profiling Identifies Global Methylation Differences and Markers of Adrenocortical Tumors
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Differential expression of microRNA-675, microRNA-139-3p and microRNA-335 in benign and malignant adrenocortical tumours
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Frequent Phosphodiesterase 11A Gene ( PDE11A ) Defects in Patients with Carney Complex (CNC) Caused by PRKAR1A Mutations: PDE11A May Contribute to Adrenal and Testicular Tumors in CNC as a Modifier of the Phenotype
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Molecular and Clinical Evidence for anARMC5Tumor Syndrome: Concurrent Inactivating Germline and Somatic Mutations Are Associated With Both Primary Macronodular Adrenal Hyperplasia and Meningioma
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Detection of somatic β-catenin mutations in primary pigmented nodular adrenocortical disease (PPNAD)
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The High-Affinity cAMP-Specific Phosphodiesterase 8B Controls Steroidogenesis in the Mouse Adrenal Gland
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A multicenter experience on the prevalence of ARMC5 mutations in patients with primary bilateral macronodular adrenal hyperplasia: from genetic characterization to clinical phenotype
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Towards an understanding of the role of p53 in adrenocortical carcinogenesis
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A large family with Carney complex caused by the S147G PRKAR1A mutation shows a unique spectrum of disease including adrenocortical cancer
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Carney complex with adrenal cortical carcinoma
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Meta-analysis of adrenocortical tumour genomics data: novel pathogenic pathways revealed
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Constitutive activation of the human ACTH receptor resulting from a synergistic interaction between two naturally occurring missense mutations in the MC2R gene
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IGF2 Promotes Growth of Adrenocortical Carcinoma Cells, but Its Overexpression Does Not Modify Phenotypic and Molecular Features of Adrenocortical Carcinoma
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Gene expression profiling in adrenocortical neoplasia
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Mass-array screening of frequent mutations in cancers reveals RB1 alterations in aggressive adrenocortical carcinomas.
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Genetics of Adrenocortical Development and Tumors
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Katecholaminabhängiges hereditäres Cushing-Syndrom - Verlaufsbeobachtung nach einseitiger Adrenalektomie
Imöhl, M., Köditz, R., Stachon, A., Müller, K., Nicolas, V., Pfeilschifter, J., & Krieg, M. (2002) · Medizinische Klinik - Intensivmedizin und Notfallmedizin · doi:10.1007/s00063-002-1220-2 · Cited by 33 · see citing works
Adrenocortical Cancer in Carney Complex: A Paradigm of Endocrine Tumor Progression or an Association of Genetic Predisposing Factors?
Bertherat, J. Y. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2011-3327 · Cited by 33 · see citing works
Self-citation
Mutation Analysis of Gs.ALPHA., Adrenocorticotropin Receptor and p53 Genes in Japanese Patients with Adrenocortical Neoplasms. Including a Case of Gs.ALPHA. Mutation.
Kobayashi, H., Usui, T., Fukata, J., Yoshimasa, T., Oki, Y., & Nakao, K. (2000) · Endocrine Journal · doi:10.1507/endocrj.47.461 · Cited by 31 · see citing works
Identification of Genetic Alterations ofAXIN2Gene in Adrenocortical Tumors
Chapman, A., Durand, J., Ouadi, L., & Bourdeau, I. (2011) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2010-2987 · Cited by 28 · see citing works
Cortisol Producing Adrenal Adenoma—a New Manifestation of Gardner's Syndrome
Beuschlein, F., Reincke, M., Königer, M., D'Orazio, D., Dobbie, Z., & Rump, L. C. (2000) · Endocrine Research · doi:10.3109/07435800009048600 · Cited by 27 · see citing works
ZNRF3 is downregulated in papillary thyroid carcinoma and suppresses the proliferation and invasion of papillary thyroid cancer cells
Qiu, W., Yang, Z., Fan, Y., & Zheng, Q. (2016) · Tumor Biology · doi:10.1007/s13277-016-5250-4 · Cited by 26 · see citing works
Adrenocortical cancer and IGF2: is the game over or our experimental models limited?
Drelon, C., Berthon, A., & Val, P. (2013) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-3310 · Cited by 24 · see citing works
In VitroStudies of NovelPRKAR1AMutants that Extend the Predicted RIα Protein Sequence into the 3′-Untranslated Open Reading Frame: Proteasomal Degradation Leads to RIα Haploinsufficiency and Carney Complex
Patronas, Y., Horvath, A., Greene, E., Tsang, K., Bimpaki, E. I., Haran, M., Nesterova, M., & Stratakis, C. A. (2011) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2011-2220 · Cited by 22 · see citing works
Genetics of adrenocortical tumours
Åkerström, T., Carling, T., Beuschlein, F., & Hellman, P. (2016) · Journal of Internal Medicine · doi:10.1111/joim.12452 · Cited by 20 · see citing works
AXIN genetic analysis in adrenocortical carcinomas updated.
Guimier, A., Ragazzon, B., Assié, G., Tissier, F., Dousset, B. E., Bertherat, J. Y., & Gaujoux, S. (2013) · PubMed · doi:10.3275/9022 · Cited by 11 · see citing works
Self-citation
Less common genotype variants of TP53 polymorphisms are associated with poor outcome in adult patients with adrenocortical carcinoma
Heinze, B., Herrmann, L., Faßnacht, M., Ronchi, C. L., Willenberg, H. S., Quinkler, M. O., Reisch, N., Zink, M., Allolio, B., & Hahner, S. (2014) · European Journal of Endocrinology · doi:10.1530/eje-13-0788 · Cited by 11 · see citing works
Genetics of Carney Complex and Related Familial Lentiginoses, and other Multiple Tumor Syndromes
Stratakis, C. A. (2000) · Fetal and Pediatric Pathology · doi:10.1080/15513810009168808 · Cited by 11 · see citing works
Epigenetic dysregulation in adrenocortical carcinoma, a systematic review of the literature
Jonker, P., Meyer, V., & Kruijff, S. (2017) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2017.08.009 · Cited by 5 · see citing works

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Adrenal incidentaloma
Sherlock, M., Scarsbrook, A., Abbas, A., Fraser, S., Limumpornpetch, P., Dineen, R., & Stewart, P. M. (2020) · Endocrine Reviews · doi:10.1210/endrev/bnaa008 · Cited by 347 · see citing works
“Somatic activating mutations of protein kinase A catalytic subunit (PRKACA) has been implicated in up to 50% of patients with adenomas with clinical Cushing’s syndrome, but not in adenomas producing less cortisol (138,142,147).”
Background
Diagnosis and treatment of primary aldosteronism: practical clinical perspectives
Young, W. F. (2018) · Journal of Internal Medicine · doi:10.1111/joim.12831 · Cited by 326 · see citing works
Carney Complex
Kamilaris, C. D. C., Faucz, F. R., Voutetakis, A., & Stratakis, C. A. (2018) · Experimental and Clinical Endocrinology & Diabetes · doi:10.1055/a-0753-4943 · Cited by 138 · see citing works
Diagnosis and management of primary bilateral macronodular adrenal hyperplasia
Vassiliadi, D. A., & Tsagarakis, S. (2019) · Endocrine Related Cancer · doi:10.1530/erc-19-0240 · Cited by 83 · see citing works
Adrenocortical tumorigenesis: Lessons from genetics
Kamilaris, C. D. C., Hannah‐Shmouni, F., & Stratakis, C. A. (2020) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2020.101428 · Cited by 71 · see citing works
The Low-Renin Hypertension Phenotype: Genetics and the Role of the Mineralocorticoid Receptor
Baudrand, R. F., & Vaidya, A. (2018) · International Journal of Molecular Sciences · doi:10.3390/ijms19020546 · Cited by 64 · see citing works
Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer
Chen, B., Zhang, G., Li, X., Ren, C., Wang, Y., Li, K., Mok, H., Cao, L., Wen, L., Jia, M., et al. (2020) · Aging · doi:10.18632/aging.102783 · Cited by 52 · see citing works
Wnt/β-catenin activation cooperates with loss of p53 to cause adrenocortical carcinoma in mice
Borges, K. S., Pignatti, E., Leng, S., Kariyawasam, D., Ruiz‐Babot, G., Ramalho, F. S., Taketo, M. M., Carlone, D. L., & Breault, D. T. (2020) · Oncogene · doi:10.1038/s41388-020-1358-5 · Cited by 49 · see citing works
The Role of Biomarkers in Adrenocortical Carcinoma: A Review of Current Evidence and Future Perspectives
Mizdrak, M., Kurir, T. T., & Božić, J. (2021) · Biomedicines · doi:10.3390/biomedicines9020174 · Cited by 44 · see citing works
Pathophysiology of Mild Hypercortisolism: From the Bench to the Bedside
Favero, V., Cremaschi, A., Parazzoli, C., Falchetti, A., Gaudio, A., Gennari, L., Scillitani, A., Vescini, F., Morelli, V., Aresta, C., et al. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23020673 · Cited by 43 · see citing works
ARMC5 Alterations in Primary Macronodular Adrenal Hyperplasia (PMAH) and the Clinical State of Variant Carriers
Kyo, C., Usui, T., Kosugi, R., Torii-Hanakita, M., Yonemoto, T., Ogawa, T., Kotani, M., Tamura, N., Yamamoto, Y. L., Katabami, T., et al. (2019) · Journal of the Endocrine Society · doi:10.1210/js.2019-00210 · Cited by 35 · see citing works
Molecular Genetic and Genomic Alterations in Cushing’s Syndrome and Primary Aldosteronism
Kamilaris, C. D. C., Stratakis, C. A., & Hannah‐Shmouni, F. (2021) · Frontiers in Endocrinology · doi:10.3389/fendo.2021.632543 · Cited by 36 · see citing works
Adrenocortical carcinoma: a literature review
Thampi, A., Shah, E., Elshimy, G., & Correa, R. (2020) · Translational Cancer Research · doi:10.21037/tcr.2019.12.28 · Cited by 32 · see citing works
Pediatric solid tumors and associated cancer predisposition syndromes: Workup, management, and surveillance. A summary from the APSA Cancer Committee
Grant, C. N., Rhee, D. S., Tracy, E. T., Aldrink, J. H., Baertschiger, R. M., Lautz, T. B., Glick, R. D., Rodeberg, D. A., Ehrlich, P. F., & Christison-Lagay, E. R. (2021) · Journal of Pediatric Surgery · doi:10.1016/j.jpedsurg.2021.08.008 · Cited by 31 · see citing works
How to Differentiate Benign from Malignant Adrenocortical Tumors?
Viëtor, C. L., Creemers, S. G., van Kemenade, F. J., van Ginhoven, T. M., Hofland, L. J., & Feelders, R. A. (2021) · Cancers · doi:10.3390/cancers13174383 · Cited by 33 · see citing works
Imaging features of adrenal gland masses in the pediatric population
Hanafy, A. K., Mujtaba, B., Roman-Colon, A. M., Elsayes, K. M., Harrison, D. J., Ramani, N. S., Waguespack, S. G., & Morani, A. C. (2019) · Abdominal Radiology · doi:10.1007/s00261-019-02213-x · Cited by 30 · see citing works
Medical Approaches in Adrenocortical Carcinoma
Paragliola, R. M., Corsello, A., Locantore, P., Papi, G., Pontecorvi, A., & Corsello, S. M. (2020) · Biomedicines · doi:10.3390/biomedicines8120551 · Cited by 29 · see citing works
Update of Genetic and Molecular Causes of Adrenocortical Hyperplasias Causing Cushing Syndrome
Berthon, A. S., & Bertherat, J. Y. (2020) · Hormone and Metabolic Research · doi:10.1055/a-1061-7349 · Cited by 27 · see citing works
Self-citation
The role of insulin-like growth factor system in the adrenocortical tumors
Altieri, B., Colao, A., & Faggiano, A. (2018) · Minerva Endocrinology · doi:10.23736/s0391-1977.18.02882-1 · Cited by 27 · see citing works
Is Follow-up of Adrenal Incidentalomas Always Mandatory?
Reimondo, G., Muller, A., Ingargiola, E., Puglisi, S., & Terzolo, M. (2020) · Endocrinology and Metabolism · doi:10.3803/enm.2020.35.1.26 · Cited by 23 · see citing works
The role of epithelial growth factors and insulin growth factors in the adrenal neoplasms
Angelousi, A. G., Kyriakopoulos, G., Ansari, N. N., Karageorgou, M., & Kassi, E. N. (2018) · Annals of Translational Medicine · doi:10.21037/atm.2018.05.52 · Cited by 23 · see citing works
ARMC5 Primary Bilateral Macronodular Adrenal Hyperplasia Associated with a Meningioma: A Family Report
Ferreira, M. J., Pedro, J. M. P., Salazar, D. A., Costa, C. F., Rodrigues, J. A., Costa, M. M., Grangeia, A., Castedo, J. L., & Carvalho, D. M. (2020) · Case Reports in Endocrinology · doi:10.1155/2020/8848151 · Cited by 23 · see citing works
Genetic Alterations in Benign Adrenal Tumors
Pitsava, G., & Stratakis, C. A. (2022) · Biomedicines · doi:10.3390/biomedicines10051041 · Cited by 20 · see citing works
Germline NGS targeted analysis in adult patients with sporadic adrenocortical carcinoma
Scatolini, M., Grisanti, S., Tomaiuolo, P., Grosso, E., Basile, V., Cosentini, D., Puglisi, S., Laganà, M., Perotti, P., Saba, L., et al. (2024) · European Journal of Cancer · doi:10.1016/j.ejca.2024.114088 · Cited by 19 · see citing works
DNA Methylation Profiling Reveals Prognostically Significant Groups in Pediatric Adrenocortical Tumors: A Report From the International Pediatric Adrenocortical Tumor Registry
Clay, M. R., Pinto, E. M., Cline, C., Tran, Q. T., Lin, T., Dyer, M. A., Shi, L. G., Wu, H., Pounds, S. B., Zambetti, G. P., et al. (2019) · JCO Precision Oncology · doi:10.1200/po.19.00163 · Cited by 21 · see citing works
“Sexual dimorphism in adrenal gland development and tumorigenesis”
Levasseur, A., Dumontet, T., & Martinez, A. (2019) · Current Opinion in Endocrine and Metabolic Research · doi:10.1016/j.coemr.2019.07.008 · Cited by 16 · see citing works
Adrenal Cortex Development and Maintenance: Knowledge Acquired From Mouse Models
Nader, N. A., & Boyer, A. (2021) · Endocrinology · doi:10.1210/endocr/bqab187 · Cited by 17 · see citing works
Impact of Morphology in the Genotype and Phenotype Correlation of Bilateral Macronodular Adrenocortical Disease (BMAD): A Series of Clinicopathologically Well-Characterized 35 Cases
Violon, F., Bouys, L., Berthon, A. S., Ragazzon, B., Barat, M., Perlemoine, K., Guignat, L., Terris, B., Bertherat, J. Y., & Sibony, M. (2023) · Endocrine Pathology · doi:10.1007/s12022-023-09751-7 · Cited by 17 · see citing works
Self-citation
CCNB2 and AURKA overexpression may cause atypical mitosis in Japanese cortisol-producing adrenocortical carcinoma with TP53 somatic variant
Ikeya, A., Nakashima, M., Yamashita, M., Kakizawa, K., Okawa, Y., Saitsu, H., Sasaki, S., Sasano, H., Suda, T., & Oki, Y. (2020) · PLoS ONE · doi:10.1371/journal.pone.0231665 · Cited by 16 · see citing works
Animal Models of Cushing's Syndrome
Nishiyama, M., Iwasaki, Y., & Makino, S. (2022) · Endocrinology · doi:10.1210/endocr/bqac173 · Cited by 15 · see citing works
Markers of Subclinical Cardiovascular Disease in Patients with Adrenal Incidentaloma
Szychlińska, M., Baranowska-Jurkun, A., Matuszewski, W., Wołos-Kłosowicz, K., & Bandurska-Stankiewicz, E. M. (2020) · Medicina · doi:10.3390/medicina56020069 · Cited by 14 · see citing works
Primary macronodular adrenal hyperplasia (PMAH) can be generated by a new ARMC5 germline variant (c.52C>T (p.Gln18X))
Zhang, F., Lin, X., & Yu, X. (2020) · Endocrine Journal · doi:10.1507/endocrj.ej20-0163 · Cited by 14 · see citing works
Disorders of the adrenal cortex: Genetic and molecular aspects
Pitsava, G., Maria, A. G., & Faucz, F. R. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.931389 · Cited by 13 · see citing works
Adrenal Corticomedullary Mixed Tumor Associated With the FGFR4-G388R Variant
Kanzawa, M., Fukuoka, H., Yamamoto, A., Suda, K., Shigemura, K., Hara, S., Imagawa, N., Tsukamoto, R., Aoyama, Y., Nakamura, Y., et al. (2020) · Journal of the Endocrine Society · doi:10.1210/jendso/bvaa101 · Cited by 11 · see citing works
Intratumoral steroid profiling of adrenal cortisol-producing adenomas by liquid chromatography- mass spectrometry
Teuber, J. P., Nanba, K., Turcu, A. F., Chen, X., Zhao, L., Else, T., Auchus, R. J., Rainey, W. E., & Rege, J. (2021) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2021.105924 · Cited by 10 · see citing works
First Somatic PRKAR1A Defect Associated With Mosaicism for Another PRKAR1A Mutation in a Patient With Cushing Syndrome
Kamilaris, C. D. C., Faucz, F. R., Andriessen, V. C., Nilubol, N., Lee, C. R., Ahlman, M. A., Hannah‐Shmouni, F., & Stratakis, C. A. (2021) · Journal of the Endocrine Society · doi:10.1210/jendso/bvab007 · Cited by 10 · see citing works
The Genotype-Based Morphology of Aldosterone-Producing Adrenocortical Disorders and Their Association with Aging
Gao, X., Yamazaki, Y., Tezuka, Y., Omata, K., Ono, Y., Morimoto, R., Nakamura, Y., Satoh, F., & Sasano, H. (2021) · Endocrinology and Metabolism · doi:10.3803/enm.2021.101 · Cited by 10 · see citing works
Primary pigmented nodular adrenocortical disease (PPNAD) as an underlying cause of symptoms in a patient presenting with hirsutism and secondary amenorrhea: case report and literature review
Cyrańska-Chyrek, E., Filipowicz, D., Szczepanek‐Parulska, E., Nowaczyk, M., Ambroziak, U., Toutounchi, S., Koperski, Ł., Bednarczuk, T., Męczekalski, B., & Ruchała, M. (2018) · Gynecological Endocrinology · doi:10.1080/09513590.2018.1493101 · Cited by 8 · see citing works
Objective assessment of adrenocortical carcinoma driver genes and their correlation with tumor pyruvate kinase M2
Das, R., Chowdhury, M. G., Raundal, S., Jadhav, J., Kumar, N., Patel, S., & Shard, A. (2022) · Gene · doi:10.1016/j.gene.2022.146354 · Cited by 7 · see citing works
Case Report: Consecutive Adrenal Cushing’s Syndrome and Cushing’s Disease in a Patient With Somatic CTNNB1, USP8, and NR3C1 Mutations
Detomas, M., Altieri, B., Schlötelburg, W., Appenzeller, S., Schlaffer, S. M., Coras, R., Schirbel, A., Wild, V., Kroiß, M., Sbiera, S., et al. (2021) · Frontiers in Endocrinology · doi:10.3389/fendo.2021.731579 · Cited by 7 · see citing works
Cardiometabolic Morbidity of Mild Cortisol Excess
Lacroix, A. (2022) · Annals of Internal Medicine · doi:10.7326/m21-4526 · Cited by 7 · see citing works
The molecular genetics of adrenal cushing
Vaduva, P., & Bertherat, J. Y. (2024) · HORMONES · doi:10.1007/s42000-024-00608-0 · Cited by 5 · see citing works
Self-citation
Multi-omics profiling highlights karyopherin subunit alpha 2 as a promising biomarker for prognosis and immunotherapy respond in pediatric and adult adrenocortical carcinoma
Chen, Y., Fang, S., Zhong, C., Mo, S., Shi, Y., Ling, X., Liu, F., Zhong, W., Deng, J., Dong, Z., et al. (2024) · Annals of Medicine · doi:10.1080/07853890.2024.2397092 · Cited by 5 · see citing works
Current approach of primary bilateral adrenal hyperplasia
Delivanis, D. A., Vassiliadi, D. A., & Tsagarakis, S. (2022) · Current Opinion in Endocrinology Diabetes and Obesity · doi:10.1097/med.0000000000000725 · Cited by 5 · see citing works
Evaluation and Treatment of Adrenal Dysfunction in the Primary Care Environment
Cole, S. (2018) · Nursing Clinics of North America · doi:10.1016/j.cnur.2018.04.007 · Cited by 5 · see citing works
Primary Pigmented Nodular Adrenocortical Disease (PPNAD) Presenting as Cushing Syndrome in a Child and Review of Literature
Bavadiya, G. (2020) · Acta Endocrinologica (Bucharest) · doi:10.4183/aeb.2020.362 · Cited by 5 · see citing works
Adrenocortical carcinoma with circulating tumor DNA analysis at post-operative recurrence: a case report with review of literature
Aono, D., Kato, T., Morisawa, A., Kimata, S., Konishi, S., Kometani, M., Yoneda, T., Hosomichi, K., & Karashima, S. (2024) · Endocrine Journal · doi:10.1507/endocrj.ej24-0346 · Cited by 4 · see citing works
Unexpected discrepancies between steroid intra-tissular content in adrenal tumors and clinical diagnosis of steroid excess
Bonnet-Serrano, F., Thomeret, L., Benanteur, N., Vaduva, P., Violon, F., Bouys, L., Ragazzon, B., Berthon, A. S., Perlemoine, K., Wilmot-Roussel, H., et al. (2025) · European Journal of Endocrinology · doi:10.1093/ejendo/lvaf129 · Cited by 4 · see citing works
Self-citation
Transcriptome Profile of the Rat Adrenal Gland: Parenchymal and Interstitial Cells
Tyczewska, M., Sujka‐Kordowska, P., Szyszka, M., Jopek, K., Blatkiewicz, M., Malendowicz, L. K., & Ruciński, M. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24119159 · Cited by 4 · see citing works
Severe osteoporosis in a young man with bilateral Cushing’s syndrome: a case report
Reis, B. O., Leal, C. T. D. S., Ezequiel, D. G. A., Juliano, A. C. D. S. R. S., Veloso, F. L. D. M., da Silva, L. M., Ferreira, L. V., Ferreira, M., & Souza, G. Z. D. O. (2023) · Journal of Medical Case Reports · doi:10.1186/s13256-023-03968-0 · Cited by 4 · see citing works
Mitochondria and Brain Disorders
Baloyannis, S. (2019) · IntechOpen eBooks · doi:10.5772/intechopen.77668 · Cited by 4 · see citing works
A case of adrenocortical carcinoma diagnosed 9 years after the discovery of adrenal incidentaloma
Aono, D., Kometani, M., Asano, T., Konishi, S., Karashima, S., Ikeda, H., Nohara, T., & Yoneda, T. (2022) · Endocrine Journal · doi:10.1507/endocrj.ej22-0171 · Cited by 3 · see citing works
Pathology Associated with Hormones of Adrenal Cortex
Nigam, L. K., Vanikar, A. V., Patel, R., Kanodia, K. V., & Suthar, K. S. (2020) · IntechOpen eBooks · doi:10.5772/intechopen.84815 · Cited by 3 · see citing works
Disorders of the adrenal gland
Bertholf, R. L. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-818277-2.00004-2 · Cited by 3 · see citing works
Adrenocortical carcinoma
Ettaieb, M. H. T. (2020) · doi:10.26481/dis.20201218me · Cited by 4 · see citing works
WNT pathway deregulation in adrenal cortex tumorigenesis
Wilmouth, J., Olabe, J., Roucher‐Boulez, F., & Val, P. (2019) · Current Opinion in Endocrine and Metabolic Research · doi:10.1016/j.coemr.2019.08.016 · Cited by 2 · see citing works
Congenital adrenal hyperplasia with associated giant adrenal myelolipoma, testicular adrenal rest tumors and primary pigmented nodular adrenocortical disease: A case report and brief review of the literature
Jacobson, A., Koberlein, E., Thomay, A. A., Lombard, C. B., Adelanwa, A., Lakhani, D. A., & Smith, K. T. (2021) · Radiology Case Reports · doi:10.1016/j.radcr.2021.12.031 · Cited by 2 · see citing works
Genetic and clinical phenotypic analysis of carney complex with external auditory canal myxoma
Wei, W., Zeng, L., Jiang, H., Xia, Y., & Xiong, Y. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.947305 · Cited by 2 · see citing works
Germline and somatic genetic drivers of adrenocortical tumours
Bouys, L., & Bertherat, J. Y. (2026) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2026.102099 · Cited by 1 · see citing works
Self-citation
Molecular profile of Cushing’s syndrome
González-Pérez, C., Pedraza‐Arévalo, S., Castano, J. P., & Ibáñez‐Costa, A. (2026) · Vitamins and hormones · doi:10.1016/bs.vh.2026.04.003 · Cited by 1 · see citing works
Pathogenesis of benign unilateral adrenocortical tumors: focus on cAMP/PKA pathway
Weigand, I. (2018) · Minerva Endocrinology · doi:10.23736/s0391-1977.18.02874-2 · Cited by 1 · see citing works
Partial glucocorticoid resistance in the pathophysiology of adrenal cortex hyperplasia
Vitellius, G., & Lombès, M. (2019) · Current Opinion in Endocrine and Metabolic Research · doi:10.1016/j.coemr.2019.06.011 · Cited by 1 · see citing works
Challenges and controversies in adrenal surgery: A practical approach
Beninato, T. M., Duh, Q., Long, K. L., Kiernan, C. M., Miller, B. S., Patel, S. G., Randle, R. W., Wachtel, H., Zanocco, K. A., Zern, N. K., et al. (2023) · Current Problems in Surgery · doi:10.1016/j.cpsurg.2023.101374 · Cited by 1 · see citing works
Overview and Initial Management of Cushing Syndrome
Youssef, S., & Singhal, V. (2020) · Springer eBooks · doi:10.1007/978-3-030-52215-5_50
El antimilitarismo en el movimiento antiguerra
Barranco, C. P. (2003) · Africa América Latina, cuadernos: Revista de análisis sur-norte para una cooperación solidaria
Avaliação dos miR-214-3p, miR-150-5p, miR-142-5p, miR-708-5p, miR-34a-5p e miR-139-3p em tumores adrenocorticais da infância: correlação com achados clínicos e biológicos
Lorea, C. F. (2021) · doi:10.11606/t.17.2021.tde-04102021-142855
Tumor oncocítico hipersecretor de corteza suprarrenal, presentación de un caso
Hernández, M. G., Suárez, A. H., & Gutiérrez, L. E. C. (2022) · Anatomía Digital · doi:10.33262/anatomiadigital.v5i1.1971
Carney’s Complex
Stratakis, C. A., & Faucz, F. R. (2022) · doi:10.1093/med/9780198870197.003.0120
Common Features of Endocrine Tumours
Jouinot, A., Bonnet-Serrano, F., & Bertherat, J. Y. (2022) · doi:10.1093/med/9780198870197.003.0008
Self-citation
Primary Pigmented Nodular Adrenocortical Disease (PPNAD) Presenting as ACTH-Independent Cushing’s Syndrome: A Case Report
Martín, R. N., Cuéllar, L. B., Alemany, M. D. C. D. M., Kalbouza, S., Cariñena, S. L., Navarro, E. C., & Macián, F. M. (2022) · Journal of Pediatrics Research Reviews & Reports · doi:10.47363/jprrr/2022(4)136
Molecular tools for diagnosing diseases of the adrenal cortex
Faucz, F. R., Maria, A. G., & Stratakis, C. A. (2023) · Current Opinion in Endocrinology Diabetes and Obesity · doi:10.1097/med.0000000000000809
Surgery for Adrenal Tumors
Ghabra, S., Luberice, K., Nilubol, N., Mannes, A. J., & Lu, X. (2023) · Springer eBooks · doi:10.1007/978-3-031-50977-3_51
Androgen-Secreting Adrenal Adenoma in a Postmenopausal Woman as a Cause of Hirsutism
Bermúdez-Silva, L. N., Buell‐Acosta, J. D., León-Cárdenas, L. A., & Franco, J. J. P. (2025) · JCEM Case Reports · doi:10.1210/jcemcr/luaf250
Protein Kinase A Signaling in Cortisol Production and Adrenal Cushing’s Syndrome
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Authors: Bonnet-Serrano, F., & Bertherat, J.
Affiliations: Centre National de la Recherche Scientifique (FR)
ORCID: Bonnet-Serrano, Fidéline
Venue: Endocrine Related Cancer
Publisher: Bioscientifica
Published: 2018-03
Volume: 25
Issue: 3
Pages: R131-R152
ISSN: 1351-0088 (ISSN-L)
1479-6821
DOI: 10.1530/erc-17-0361
OpenAlex: W2774388711
Cited by: 80
References: 140
Citations by year: 2026: 5 · 2025: 3 · 2024: 4 · 2023: 7 · 2022: 13 · 2021: 12 · 2020: 18 · 2019: 8 · 2018: 9
FWCI: 2.03
Type: journal article
Language: en
Open access: hybrid
doi.org
Licence: cc-by
Locations: Endocrine Related Cancer (publishedVersion, cc-by)
PubMed (publishedVersion)
Funders: Agence Nationale de la Recherche (ANR-14-CE12-0007, ANR-15-CE12-0017)
Topics: Health Sciences › Medicine › Surgery › Adrenal and Paraganglionic Tumors
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
Keywords: adrenocortical tumors, adrenocortical carcinoma, Carney complex, PRKAR1A mutation, ARMC5, Wnt/β-catenin signaling, CTNNB1 mutation, ZNRF3, cAMP/PKA signaling, PRKACA, p53 pathway, epigenetic modifications, tumor subtypes, prognosis markers, germline mutations
MeSH terms: Adrenal Cortex Neoplasms, Animals, Humans, Adrenocortical Carcinoma

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