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Genetic Spectrum and Clinical Correlates of Somatic Mutations in Aldosterone-Producing Adenoma
Open accessAbstract
Primary aldosteronism is the most common form of secondary hypertension. Somatic mutations in KCNJ5, ATP1A1, ATP2B3, and CACNA1D have been described in aldosterone-producing adenomas (APAs). Our aim was to investigate the prevalence of somatic mutations in these genes in unselected patients with APA (n=474), collected through the European Network for the Study of Adrenal Tumors. Correlations with clinical and biochemical parameters were first analyzed in a subset of 199 patients from a single center and then replicated in 2 additional centers. Somatic heterozygous KCNJ5 mutations were present in 38% (180/474) of APAs, whereas ATP1A1 mutations were found in 5.3% (25/474) and ATP2B3 mutations in 1.7% (8/474) of APAs. Previously reported somatic CACNA1D mutations as well as 10 novel CACNA1D mutations were identified in 44 of 474 (9.3%) APAs. There was no difference in the cellular composition of APAs or in CYP11B2, CYP11B1, KCNJ5, CACNA1D, or ATP1A1 gene expression in APAs across genotypes. Patients with KCNJ5 mutations were more frequently female, diagnosed younger, and with higher minimal plasma potassium concentrations compared with CACNA1D mutation carriers or noncarriers. CACNA1D mutations were associated with smaller adenomas. These associations were largely dependent on the population structure of the different centers. In conclusion, recurrent somatic mutations were identified in 54% of APAs. Young women with APAs are more likely to be KCNJ5 mutation carriers; identification of specific characteristics or surrogate biomarkers of mutation status may lead to targeted treatment options.
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Pitt, B., Remme, W., Zannad, F., Neaton, J., Martinez, F., Roniker, B., Bittman, R., Hurley, S., Kleiman, J., & Gatlin, M. (2003) · New England Journal of Medicine · doi:10.1056/nejmoa030207 · Cited by 4,941
Eplerenone in patients with systolic heart failure and mild symptoms
Zannad, F., McMurray, J. J. V., Krum, H., van Veldhuisen, D. J., Swedberg, K., Shi, H., Vincent, J., Pocock, S. J., & Pitt, B. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1009492 · Cited by 3,111
Funder, J. W., Carey, R. M., Fardella, C., Gomez-Sanchez, C. E., Mantero, F., Stowasser, M., Young, W. F., & Montori, V. M. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-0104 · Cited by 1,554
Self-citationA prospective study of the prevalence of primary aldosteronism in 1,125 hypertensive patients
Rossi, G. P., Bernini, G., Caliumi, C., Desideri, G., Fabris, B., Ferri, C., Ganzaroli, C., Giacchetti, G., Letizia, C., Maccario, M., et al. (2006) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2006.07.059 · Cited by 1,467
Self-citationK + Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension
Choi, M., Scholl, U. I., Yue, P., Björklund, P., Zhao, B., Nelson-Williams, C. J., Ji, W., Cho, Y., Patel, A. P., Men, C. J., et al. (2011) · Science · doi:10.1126/science.1198785 · Cited by 999
Mulatero (2004) · doi:10.1210/jc.2003-031337 · Cited by 961
Self-citationPitt, B., Wj, R., Zannad, F. M., Neaton, J. D., Martínez, F. A., Roniker, B., Bittman, R. M., Hurley, S., Kleiman, J. H., & Gatlin, M. R. (2003) · Cited by 708
Scholl, U. I., Goh, G., Stölting, G., de Oliveira, R. C., Choi, M., Overton, J. D., Fonseca, A. L., Korah, R., Starker, L. F., Kunstman, J. W., et al. (2013) · Nature Genetics · doi:10.1038/ng.2695 · Cited by 627
Beuschlein, F., Boulkroun, S., Osswald, A., Wieland, T., Nielsen, H. N., Lichtenauer, U. D., Penton, D., Schack, V. R., Amar, L., Fischer, E., et al. (2013) · Nature Genetics · doi:10.1038/ng.2550 · Cited by 577
Self-citationSomatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension
Azizan, E. A. B., Poulsen, H., Tuluc, P., Zhou, J., Clausen, M. V., Lieb, A., Maniero, C., Garg, S., Bochukova, E. G., Zhao, W., et al. (2013) · Nature Genetics · doi:10.1038/ng.2716 · Cited by 544
Savard, S., Amar, L., Plouin, P.-F., & Steichen, O. (2013) · Hypertension · doi:10.1161/hypertensionaha.113.01060 · Cited by 505
Self-citationLong-Term Cardio- and Cerebrovascular Events in Patients With Primary Aldosteronism
Mulatero, P., Monticone, S., Bertello, C., Viola, A., Tizzani, D., Iannaccone, A., Crudo, V. L., Burrello, J., Milan, A., Rabbia, F., et al. (2013) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2013-2805 · Cited by 413
Self-citationPrevalence, Clinical, and Molecular Correlates of KCNJ5 Mutations in Primary Aldosteronism
Boulkroun, S., Beuschlein, F., Rossi, G.-P., Golib-Dzib, J.-F., Fischer, E., Amar, L., Mulatero, P., Samson-Couterie, B., Hahner, S., Quinkler, M., et al. (2012) · Hypertension · doi:10.1161/hypertensionaha.111.186478 · Cited by 278
Self-citationEmerging roles for two-pore-domain potassium channels and their potential therapeutic impact
Bayliss, D. A., & Barrett, P. Q. (2008) · Trends in Pharmacological Sciences · doi:10.1016/j.tips.2008.07.013 · Cited by 217
Azizan, E. A. B. A., Lam, B., Newhouse, S., Zhou, J., Kuc, R. E., Clarke, J., Happerfield, L. C., Marker, A. J., Hoffman, G. J., & Brown, M. J. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2011-2965 · Cited by 190
A Clinical Prediction Score to Diagnose Unilateral Primary Aldosteronism
Küpers, E. M., Amar, L., Raynaud, A. C., Plouin, P., & Steichen, O. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-1917 · Cited by 181
Self-citationRisk Factors Associated with a Low Glomerular Filtration Rate in Primary Aldosteronism
Reincke, M., Rump, L. C., Quinkler, M. O., Hahner, S., Diederich, S., Lorenz, R. L., Seufert, J., Schirpenbach, C., Beuschlein, F., Bidlingmaier, M., et al. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-1851 · Cited by 176
Self-citationPotassium Channel Mutant KCNJ5 T158A Expression in HAC-15 Cells Increases Aldosterone Synthesis
Oki, K., Plonczynski, M. W., Lam, M. L., Gómez-Sánchez, E. P., & Gómez-Sánchez, C. E. (2012) · Endocrinology · doi:10.1210/en.2011-1733 · Cited by 176
Somatic ATP1A1 , ATP2B3 , and KCNJ5 Mutations in Aldosterone-Producing Adenomas
Williams, T. A., Monticone, S., Schack, V. R., Stindl, J., Burrello, J., Buffolo, F., Annaratone, L., Castellano, I., Beuschlein, F., Reincke, M., et al. (2013) · Hypertension · doi:10.1161/hypertensionaha.113.01733 · Cited by 169
Self-citationSignaling complexes of voltage-gated sodium and calcium channels
Catterall, W. A. (2010) · Neuroscience Letters · doi:10.1016/j.neulet.2010.08.085 · Cited by 135
Letavernier, E., Peyrard, S., Amar, L., Zinzindohoué, F., Fiquet, B., & Plouin, P. (2008) · Journal of Hypertension · doi:10.1097/hjh.0b013e3283060f0c · Cited by 124
Self-citationLetavernier, E., Peyrard, S., Amar, L., Zinzindohoué, F., Fiquet, B., & Plouin, P. (2009) · Journal of Hypertension · doi:10.1097/hjh.0b013e328324eb3d · Cited by 117
Self-citationBoulkroun, S., Samson-Couterie, B., Dzib, J. F. G., Amar, L., Plouin, P., Sibony, M., Lefèbvre, H., Louiset, E., Jeunemaı̂tre, X., Méatchi, T., et al. (2011) · Endocrinology · doi:10.1210/en.2011-1205 · Cited by 109
Self-citationHannemann, A., Bidlingmaier, M., Friedrich, N., Manolopoulou, J., Spyroglou, A., Völzke, H., Beuschlein, F., Seißler, J., Rettig, R., Felix, S. B., et al. (2012) · European Journal of Endocrinology · doi:10.1530/eje-11-1013 · Cited by 103
Self-citationHistopathology of the human adrenal cortex.
Neville, A., & O'Hare, M. (1985) · Clinics in Endocrinology and Metabolism · doi:10.1016/s0300-595x(85)80078-5 · Cited by 88
Aldosterone-producing adenoma and other surgically correctable forms of primary aldosteronism
Amar, L., Plouin, P., & Steichen, O. (2010) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-5-9 · Cited by 82
Self-citationPharmacology and Pathophysiology of Mutated KCNJ5 Found in Adrenal Aldosterone-Producing Adenomas
Tauber, P., Pentón, D., Stindl, J., Humberg, E., Tegtmeier, I., Sterner, C. W., Beuschlein, F., Reincke, M., Barhanin, J., Bandulik, S., et al. (2014) · Endocrinology · doi:10.1210/en.2013-1944 · Cited by 70
Self-citationDifferential diagnosis of primary aldosteronism subtypes
Mulatero, P., Bertello, C., Verhovez, A., Rossato, D., Giraudo, G., Mengozzi, G., Limerutti, G., Avenatti, E., Tizzani, D., & Veglio, F. (2009) · Current Hypertension Reports · doi:10.1007/s11906-009-0038-1 · Cited by 45
Self-citationDiagnosis and Treatment of Primary Aldosteronism
Rossi, G. P. (2011) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2011.01.005 · Cited by 37
Diagnosis and treatment of primary aldosteronism
Mulatero, P., Monticone, S., & Veglio, F. (2011) · Reviews in Endocrine and Metabolic Disorders · doi:10.1007/s11154-011-9156-6 · Cited by 29
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Zamponi, G. W., Striessnig, J., Koschak, A., & DOLPHIN, A. C. (2015) · Pharmacological Reviews · doi:10.1124/pr.114.009654 · Cited by 1,158
Diagnosis and treatment of primary aldosteronism
Reincke, M., Bancos, I., Mulatero, P., Scholl, U. I., Stowasser, M., & Williams, T. A. (2021) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(21)00210-2 · Cited by 377
Self-citationSherlock, 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
“Mutations in KCNJ5, CACNA1H, ATP1A1, ATP2B3, and CACNA1D account for approximately 50% of aldosteroneproducing adrenal adenomas (159) in patients from Europe; this is likely to be higher in Asian patients.”
BackgroundWilliams, B., MacDonald, T. M., Morant, S. V., Webb, D. J., Sever, P., McInnes, G. T., Ford, I., Cruickshank, J. K., Caulfield, M. J., Padmanabhan, S., et al. (2018) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(18)30071-8 · Cited by 347
Aldosterone-stimulating somatic gene mutations are common in normal adrenal glands
Nishimoto, K., Tomlins, S. A., Kuick, R. D., Cani, A. K., Giordano, T. J., Hovelson, D. H., Liu, C., Sanjanwala, A. R., Edwards, M. A., Gómez-Sánchez, C. E., et al. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1505529112 · Cited by 337
Metadata
- Authors
- Fernandes-Rosa, F. L., Williams, T. A., Riester, A., Steichen, O., Beuschlein, F., Boulkroun, S., Strom, T. M., Monticone, S., Amar, L., Meatchi, T., Mantero, F., Cicala, M.-V., Quinkler, M., Fallo, F., Allolio, B., Bernini, G., Maccario, M., Giacchetti, G., Jeunemaitre, X., Mulatero, P., Reincke, M., & Zennaro, M.-C.
- Affiliations
- Inserm (FR)
- From the INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); University Paris Descartes, Sorbonne Paris Cité, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); Service de Génétique (F.L.F.-R., X.J., M.-C.Z.), Unité Hypertension artérielle (L.A.), and Service d’Anatomie Pathologique (T.M.), Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France; Divisions of Internal Medicine and Hypertension,...
- ORCID
- Venue
- Hypertension
- Published
- 2014-08
- Volume
- 64
- Issue
- 2
- Pages
- 354-361
- ISSN
- 0194-911X (ISSN-L)
- 1524-4563
- OpenAlex
- W2111582520
- Cited by
- 310
- References
- 30
- Citations by year
- 2026: 21 · 2025: 18 · 2024: 14 · 2023: 15 · 2022: 16 · 2021: 28 · 2020: 27 · 2019: 33 · 2018: 25 · 2017: 31 · 2016: 34 · 2015: 33 · 2014: 12
- FWCI
- 29.40
- Type
- journal article
- Language
- en
- Open access
- green
- hdl.handle.net
- Licence
- other-oa
- Locations
- Hypertension (publishedVersion)
- PubMed (publishedVersion)
- Institutional Research Information System University of Turin (University of Turin) (submittedVersion, other-oa)
- Università Politecnica delle Marche (Università Politecnica delle Marche) (submittedVersion)
- mediaTUM – the media and publications repository of the Technical University Munich (Technical University Munich) (submittedVersion)
- Site cant be reached (submittedVersion)
- Padua Research Archive (University of Padova) (submittedVersion)
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Hormonal Regulation and Hypertension
- Health Sciences › Medicine › Surgery › Adrenal and Paraganglionic Tumors
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Keywords
- aldosterone-producing adenoma, primary aldosteronism, somatic mutations, KCNJ5, ATP1A1, ATP2B3, CACNA1D, secondary hypertension, plasma potassium, adenoma size, mutation prevalence, genetic spectrum, clinical correlates
- MeSH terms
- Sodium-Potassium-Exchanging ATPase, Adrenal Cortex Neoplasms, Adult, Age Factors, Aldosterone, Female, Humans, Hyperaldosteronism, Male, Middle Aged, Mutation, Potassium, Sex Factors, Adrenocortical Adenoma, Genetic Predisposition to Disease, Calcium Channels, L-Type, G Protein-Coupled Inwardly-Rectifying Potassium Channels, Plasma Membrane Calcium-Transporting ATPases, Genetic Association Studies
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