Genetic landscape of sporadic unilateral adrenocortical adenomas without PRKACA p.Leu206Arg mutation
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CONTEXT: Adrenocortical adenomas (ACAs) are among the most frequent human neoplasias. Genetic alterations affecting the cAMP/protein kinase A signaling pathway are common in cortisol-producing ACAs, whereas activating mutations in the gene encoding β-catenin (CTNNB1) have been reported in a subset of both benign and malignant adrenocortical tumors. However, the molecular pathogenesis of most ACAs is still largely unclear. OBJECTIVE: The aim of the study was to define the genetic landscape of sporadic unilateral ACAs. DESIGN AND SETTING: Next-generation whole-exome sequencing was performed on fresh-frozen tumor samples and corresponding normal tissue samples. PATIENTS: Ninety-nine patients with ACAs (74 cortisol-producing and 25 endocrine inactive) negative for p.Leu206Arg PRKACA mutation. MAIN OUTCOME MEASURES: Identification of known and/or new genetic alterations potentially involved in adrenocortical tumorigenesis and autonomous hormone secretion, genotype-phenotype correlation. RESULTS: A total of 706 somatic protein-altering mutations were detected in 88 of 99 tumors (median, six per tumor). We identified several mutations in genes of the cAMP/protein kinase A pathway, including three novel mutations in PRKACA, associated with female sex and Cushing's syndrome. We also found genetic alterations in different genes involved in the Wnt/β-catenin pathway, associated with larger tumors and endocrine inactivity, and notably, in many genes of the Ca(2+)-signaling pathway. Finally, by comparison of our genetic data with those available in the literature, we describe a comprehensive genetic landscape of unilateral ACAs. CONCLUSIONS: This study provides the largest sequencing effort on ACAs to date. We thereby identified somatic alterations affecting known and novel pathways potentially involved in adrenal tumorigenesis.
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Somatic activating mutations of GNAS occur in 5% to 17% of cortisol-secreting adrenal adenomas.
“Somatic activating mutations of GNAS, which encodes the α-subunit of the stimulatory G protein (GSα), occur in 5% to 17% of adrenal adenomas which are cortisol secreting (142,143).”
From Adrenal incidentaloma (2020) · cites this paper as [143]
PRKACA mutations may be associated with smaller adenomas but higher levels of cortisol production than adenomas without the mutation.
“Mutations in PRKACA may be associated with smaller adenomas but higher levels of cortisol production than adenomas where this mutation is not present (143,148).”
From Adrenal incidentaloma (2020) · cites this paper as [143]
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Subramanian, A., Tamayo, P., Mootha, V. K., Mukherjee, S., Ebert, B. L., Gillette, M. A., Paulovich, A., Pomeroy, S. L., Golub, T. R., Lander, E. S., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0506580102 · Cited by 53,625 · see citing works
limma powers differential expression analyses for RNA-sequencing and microarray studies
Ritchie, M. E., Phipson, B., Wu, D., Hu, Y., Law, C. W., Shi, W., & Smyth, G. K. (2015) · Nucleic Acids Research · doi:10.1093/nar/gkv007 · Cited by 40,458 · see citing works
A method and server for predicting damaging missense mutations.
Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., Kondrashov, A. S., & Sunyaev, S. R. (2010) · Nature Methods · doi:10.1038/nmeth0410-248 · Cited by 13,194 · see citing works
Signatures of mutational processes in human cancer
Initiative, A. P. C. G., Alexandrov, L. B., ICGC Breast Cancer Consortium, ICGC MMML-Seq Consortium, PedBrain, I., Nik-Zainal, S., Wedge, D. C., Aparicio, S. A. J. R., Behjati, S., Biankin, A. V., et al. (2013) · Nature · doi:10.1038/nature12477 · Cited by 9,660 · see citing works
Kumar, P., Henikoff, S., & Ng, P. C. (2009) · Nature Protocols · doi:10.1038/nprot.2009.86 · Cited by 6,521 · see citing works
The diagnosis of Cushing's syndrome: an Endocrine Society Clinical Practice Guideline.
Nieman, L. K., Biller, B. M. K., Findling, J. W., Newell-Price, J., Savage, M. O., Stewart, P. M., & Montori, V. M. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-0125 · Cited by 2,718 · see citing works
Kim, S., Turnbull, J. E., & Guimond, S. E. (2011) · Journal of Endocrinology · doi:10.1530/joe-10-0377 · Cited by 1,166 · see citing works
K + 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 · see citing works
Pathologic features of prognostic significance in adrenocortical carcinoma
Weiss, L. M., Medeiros, L. J., & Vickery, A. L. (1989) · The American Journal of Surgical Pathology · doi:10.1097/00000478-198903000-00004 · Cited by 818 · see citing works
Integrated genomic characterization of adrenocortical carcinoma
Assié, G., Letouzé, E., Fassnacht, M., Jouinot, A., Luscap, W., Barreau, O., Omeiri, H., Rodriguez, S., Perlemoine, K., René-Corail, F., et al. (2014) · Nature Genetics · doi:10.1038/ng.2953 · Cited by 732 · see citing works
Self-citationComprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma
Zheng, S., Cherniack, A. D., Dewal, N., Moffitt, R. A., Danilova, L., Murray, B. A., Lerario, A. M., Else, T., Knijnenburg, T. A., Ciriello, G., et al. (2016) · Cancer Cell · doi:10.1016/j.ccell.2016.04.002 · Cited by 657 · see citing works
Self-citationTissier, F., Cavard, C., Groussin, L., Perlemoine, K., Fumey, G., Hagneré, A.-M., René-Corail, F., Jullian, E., Gicquel, C., Bertagna, X., et al. (2005) · Cancer Research · doi:10.1158/0008-5472.can-05-0593 · Cited by 474 · see citing works
Self-citationBeyond E-cadherin: roles of other cadherin superfamily members in cancer
Roy, F. M. V. (2014) · Nature reviews. Cancer · doi:10.1038/nrc3647 · Cited by 471 · see citing works
Constitutive activation of PKA catalytic subunit in adrenal Cushing’s syndrome
Beuschlein, F., Fassnacht, M., Assié, G., Calebiro, D., Stratakis, C. A., Osswald, A., Ronchi, C. L., Wieland, T., Sbiera, S., Faucz, F. R., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1310359 · Cited by 443 · see citing works
Self-citationde Reyniès, A., Assié, G., Rickman, D. S., Tissier, F., Groussin, L., René-Corail, F., Dousset, B., Bertagna, X., Clauser, E., & Bertherat, J. (2009) · Journal of Clinical Oncology · doi:10.1200/jco.2008.18.5678 · Cited by 382 · see citing works
Self-citationHorvath, A., Boikos, S., Giatzakis, C., Robinson-White, A., Groussin, L., Griffin, K. J., Stein, E., Levine, E., Delimpasi, G., Hsiao, H. P., et al. (2006) · Nature Genetics · doi:10.1038/ng1809 · Cited by 352 · see citing works
Self-citationAltered calcium signaling in cancer cells
Stewart, T. A., Yapa, K. T. D. S., & Monteith, G. R. (2014) · Biochimica et Biophysica Acta (BBA) - Biomembranes · doi:10.1016/j.bbamem.2014.08.016 · Cited by 339 · see citing works
Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors
Goh, G., Scholl, U. I., Healy, J. M., Choi, M., Prasad, M. L., Nelson-Williams, C. J., Kunstman, J. W., Korah, R. M., Suttorp, A., Dietrich, D., et al. (2014) · Nature Genetics · doi:10.1038/ng.2956 · Cited by 251 · see citing works
Bertherat, J. Y., Groussin, L., Sandrini, F., Matyakhina, L., Bei, T. A., Stergiopoulos, S. G., Papageorgiou, T., Bourdeau, I., Kirschner, L. S., Vincent-Dejean, C., et al. (2003) · PubMed · Cited by 250 · see citing works
Self-citationActivating hotspot L205R mutation in <i>PRKACA</i> and adrenal Cushing’s syndrome
Cao, Y., He, M., Gao, Z., Peng, Y., Li, Y., Li, L., Zhou, W., Li, X., Zhong, X., Lei, Y., et al. (2014) · Science · doi:10.1126/science.1249480 · Cited by 232 · see citing works
Recurrent somatic mutations underlie corticotropin-independent Cushing’s syndrome
Sato, Y., Maekawa, S., Ishii, R., Sanada, M., Morikawa, T., Shiraishi, Y., Yoshida, K., Nagata, Y., Sato-Otsubo, A., Yoshizato, T., et al. (2014) · Science · doi:10.1126/science.1252328 · Cited by 209 · see citing works
Fragoso, M. C. B. V., Domenice, S., Latronico, A. C., Martin, R. M., Pereira, M. A. A., Zerbini, M. C. N., Lucón, A. M., & Mendonca, B. B. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2002-021362 · Cited by 189 · see citing works
Juhlin, C. C., Goh, G., Healy, J. M., Fonseca, A. L., Scholl, U. I., Stenman, A., Kunstman, J. W., Brown, T. C., Overton, J. D., Mane, S., et al. (2014) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2014-3282 · Cited by 177 · see citing works
Frequent mutations of <i>β‐catenin</i> gene in sporadic secreting adrenocortical adenomas*
Tadjine, M., Lampron, A., Ouadi, L., & Bourdeau, I. (2008) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2007.03033.x · Cited by 153 · see citing works
Bonnet, S., Gaujoux, S., Launay, P., Baudry, C., Chokri, I., Ragazzon, B., Libé, R., René-Corail, F., Audebourg, A., Vacher-Lavenu, M.-C., et al. (2011) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2010-1885 · Cited by 133 · see citing works
Self-citationDi Dalmazi, G., Kisker, C., Calebiro, D., Mannelli, M., Canu, L., Arnaldi, G., Quinkler, M., Rayes, N., Tabarin, A., Laure Jullié, M., et al. (2014) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2014-2152 · Cited by 119 · see citing works
Landscape of somatic mutations in sporadic GH-secreting pituitary adenomas
Ronchi, C. L., Peverelli, E., Herterich, S., Weigand, I., Mantovani, G., Schwarzmayr, T., Sbiera, S., Allolio, B., Honegger, J. B., Appenzeller, S., et al. (2016) · European Journal of Endocrinology · doi:10.1530/eje-15-1064 · Cited by 114 · see citing works
Self-citationRyanodine Receptor Structure: Progress and Challenges
Hamilton, S. L., & Serysheva, I. I. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.r800054200 · Cited by 108 · see citing works
Whole-Genome Sequencing of Growth Hormone (GH)-Secreting Pituitary Adenomas
Välimäki, N., Demir, H., Pitkänen, E., Kaasinen, E., Karppinen, A., Kivipelto, L., Schalin‐Jäntti, C., Aaltonen, L. A., & Karhu, A. (2015) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2015-3129 · Cited by 106 · see citing works
Rothenbuhler, A., Horvath, A., Libé, R., Faucz, F. R., Fratticci, A., Raffin Sanson, M. L., Vezzosi, D., Azevedo, M., Levy, I., Almeida, M. Q., et al. (2012) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2012.04366.x · Cited by 96 · see citing works
Self-citationDelta-Protocadherins in Health and Disease
Kahr, I., Vandepoele, K., & Roy, F. M. V. (2013) · Progress in molecular biology and translational science · doi:10.1016/b978-0-12-394311-8.00008-x · Cited by 82 · see citing works
Calebiro, D., Hannawacker, A., Lyga, S., Bathon, K., Zabel, U., Ronchi, C. L., Beuschlein, F., Reincke, M., Lorenz, K., Allolio, B., et al. (2014) · Nature Communications · doi:10.1038/ncomms6680 · Cited by 77 · see citing works
Self-citationGeorge, C. H., Jundi, H., Thomas, N. L., Scoote, M., Walters, N., Williams, A. J., & Lai, F. A. (2004) · Molecular Biology of the Cell · doi:10.1091/mbc.e03-09-0688 · Cited by 70 · see citing works
Ronchi, C. L., Sbiera, S., Leich, E., Henzel, K., Rosenwald, A., Allolio, B., & Faßnacht, M. (2013) · PLoS ONE · doi:10.1371/journal.pone.0073959 · Cited by 66 · see citing works
Self-citationStratakis, C. A. (2007) · Hormone and Metabolic Research · doi:10.1055/s-2007-981477 · Cited by 62 · see citing works
Gibson, R. M., & Taylor, S. S. (1997) · Journal of Biological Chemistry · doi:10.1074/jbc.272.51.31998 · Cited by 47 · see citing works
Wilmot-Roussel, H., Vezzosi, D., Rizk‐Rabin, M., Barreau, O., Ragazzon, B., René-Corail, F., de Reyniès, A., Bertherat, J. Y., & Assié, G. (2013) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-4237 · Cited by 43 · see citing works
Self-citationRonchi, C. L., Leich, E., Sbiera, S., Weismann, D., Rosenwald, A., Allolio, B., & Faßnacht, M. (2012) · Neoplasia · doi:10.1593/neo.111758 · Cited by 40 · see citing works
Self-citationFelizola, S. J. A., Nakamura, Y., Satoh, F., Morimoto, R., Kikuchi, K., Nakamura, T., Hozawa, A., Wang, L., Onodera, Y., Ise, K., et al. (2014) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2013.09.025 · Cited by 30 · see citing works
Chamoux, E., Otis, M., & Gallo‐Payet, N. (2005) · Brazilian Journal of Medical and Biological Research · doi:10.1590/s0100-879x2005001000006 · Cited by 24 · see citing works
Komazaki, S., Ikemoto, T., Takeshima, H., Iino, M., Endo, M., & Nakamura, H. (1998) · Cell and Tissue Research · doi:10.1007/s004410051198 · Cited by 19 · see citing works
Enyeart, J. J., & Enyeart, J. A. (2015) · American Journal of Physiology-Cell Physiology · doi:10.1152/ajpcell.00002.2015 · Cited by 18 · see citing works
Novel genes in primary aldosteronism
Fischer, E., & Beuschlein, F. (2014) · Current Opinion in Endocrinology Diabetes and Obesity · doi:10.1097/med.0000000000000060 · Cited by 7 · see citing works
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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
“Mutations in PRKACA may be associated with smaller adenomas but higher levels of cortisol production than adenomas where this mutation is not present (143,148).”
BackgroundGadelha, M. R., Gatto, F., Wildemberg, L. E., & Fleseriu, M. (2023) · The Lancet · doi:10.1016/s0140-6736(23)01961-x · Cited by 183 · see citing works
Genetic, Cellular, and Molecular Heterogeneity in Adrenals With Aldosterone-Producing Adenoma
Sousa, K. D., Boulkroun, S., Baron, S., Nanba, K., Wack, M., Rainey, W. E., Rocha, A., Giscos-Douriez, I., Méatchi, T., Amar, L., et al. (2020) · Hypertension · doi:10.1161/hypertensionaha.119.14177 · Cited by 155 · see citing works
Mild autonomous cortisol secretion: pathophysiology, comorbidities and management approaches
Prete, A., & Bancos, I. (2024) · Nature Reviews Endocrinology · doi:10.1038/s41574-024-00984-y · Cited by 130 · see citing works
Genetic Causes of Functional Adrenocortical Adenomas
Zennaro, M., Boulkroun, S., & Fernandes-Rosa, F. L. (2017) · Endocrine Reviews · doi:10.1210/er.2017-00189 · Cited by 100 · see citing works
Activating PRKACB somatic mutation in cortisol-producing adenomas
Espiard, S., Knape, M. J., Bathon, K., Assié, G., Rizk‐Rabin, M., Faillot, S., Rondof, W., Abid, D., Guignat, L., Calebiro, D., et al. (2018) · JCI Insight · doi:10.1172/jci.insight.98296 · Cited by 85 · see citing works
Self-citationGenetics of tumors of the adrenal cortex
Bonnet-Serrano, F., & Bertherat, J. (2018) · Endocrine Related Cancer · doi:10.1530/erc-17-0361 · Cited by 80 · see citing works
Self-citationRamms, D. J., Raimondi, F., Arang, N., Herberg, F. W., Taylor, S. S., & Gutkind, J. S. (2021) · Pharmacological Reviews · doi:10.1124/pharmrev.120.000269 · Cited by 71 · see citing works
Adrenal cortex renewal in health and disease
Lyraki, R., & Schedl, A. (2021) · Nature Reviews Endocrinology · doi:10.1038/s41574-021-00491-4 · Cited by 68 · see citing works
Juhlin, C. C., Bertherat, J. Y., Giordano, T. J., Hammer, G. D., Sasano, H., & Mete, Ö. (2021) · Endocrine Pathology · doi:10.1007/s12022-021-09667-0 · Cited by 63 · see citing works
Self-citationNanba, K., & Rainey, W. E. (2021) · European Journal of Endocrinology · doi:10.1530/eje-21-0031 · Cited by 50 · see citing works
Fallo, F., Dalmazi, G. D., Beuschlein, F., Biermasz, N. R., Castinetti, F., Elenkova, A. P., Faßnacht, M., Isidori, A. M., Kaštelan, D., Korbonits, M., et al. (2022) · Journal of Hypertension · doi:10.1097/hjh.0000000000003252 · Cited by 48 · see citing works
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Dalmazi, G. D., Altieri, B., Scholz, C. J., Sbiera, S., Luconi, M., Waldman, J., Kaštelan, D., Ceccato, F., Chiodini, I., Arnaldi, G., et al. (2020) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaa616 · Cited by 43 · see citing works
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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
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Omar, M. H., Byrne, D. P., Jones, K. N., Lakey, T. M., Collins, K. B., Lee, K., Daly, L. A., Forbush, K. A., Lau, H.-T., Golkowski, M. G., et al. (2022) · Cell Reports · doi:10.1016/j.celrep.2022.111073 · Cited by 38 · see citing works
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Vaduva, P., Bonnet-Serrano, F., & Bertherat, J. Y. (2020) · Journal of the Endocrine Society · doi:10.1210/jendso/bvaa075 · Cited by 35 · see citing works
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Glebov-McCloud, A. G. P., Saide, W. S., Gaine, M. E., & Strack, S. (2024) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-024-09525-0 · Cited by 35 · see citing works
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Penny, M. K., Finco, I., & Hammer, G. D. (2016) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2016.12.005 · Cited by 31 · see citing works
Altieri, B., Secener, K., Sai, S., Fischer, C., Sbiera, S., Arampatzi, P., Kircher, S., Herterich, S., Landwehr, L., Vitcetz, S. N., et al. (2024) · Clinical and Translational Medicine · doi:10.1002/ctm2.1798 · Cited by 30 · see citing works
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Self-citationMete, Ö., & Duan, K. (2018) · Frontiers in Medicine · doi:10.3389/fmed.2018.00054 · Cited by 27 · see citing works
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Weigand, I., Ronchi, C. L., Rizk‐Rabin, M., Dalmazi, G. D., Wild, V., Bathon, K., Rubin, B., Calebiro, D., Beuschlein, F., Bertherat, J. Y., et al. (2017) · Scientific Reports · doi:10.1038/s41598-017-00125-8 · Cited by 26 · see citing works
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Belmihoub, I., Silvera, S., Sibony, M., Dousset, B. E., Legmann, P., BERTAGNA, X. Y., Bertherat, J. Y., & Assié, G. (2017) · European Journal of Endocrinology · doi:10.1530/eje-17-0037 · Cited by 24 · see citing works
Self-citationWalker, C., Wang, Y., Olivieri, C., Subrahmanian, M. V., Gao, J., Bernlohr, D., Calebiro, D., Taylor, S. S., & Veglia, G. (2021) · Journal of Molecular Biology · doi:10.1016/j.jmb.2021.167123 · Cited by 22 · see citing works
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Self-citationCastro, M. A. (2022) · Clinical Endocrinology · doi:10.1111/cen.14745 · Cited by 20 · see citing works
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Drougat, L., Settas, N., Ronchi, C. L., Bathon, K., Calebiro, D., Maria, A. G., Haydar, S., Voutetakis, A., London, E., Faucz, F. R., et al. (2020) · Genetics in Medicine · doi:10.1038/s41436-020-00958-1 · Cited by 20 · see citing works
Self-citationMestre, J. L., Duparc, C., Reznik, Y., Bonnet-Serrano, F., Touraine, P. A., Chabre, O., Young, J., Suzuki, M., Sibony, M., Gobet, F., et al. (2019) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2019-00425 · Cited by 20 · see citing works
Self-citationRemde, H., Kranz, S., Morell, S. M., Altieri, B., Kroiß, M., Detomas, M., Faßnacht, M., & Deutschbein, T. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1123132 · Cited by 19 · see citing works
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Dalmazi, G. D., Morandi, L., Rubin, B., Pilon, C., Asioli, S., Vicennati, V., Leo, A. D., Ambrosi, F., Santini, D., Pagotto, U., et al. (2020) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaa585 · Cited by 19 · see citing works
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Bouys, L., Vaczlavik, A., Cavalcante, I. P., Violon, F., Jouinot, A., Berthon, A. S., Vaduva, P., Espiard, S., Perlemoine, K., Kamenický, P., et al. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-025-03554-1 · Cited by 19 · see citing works
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Tseng, I., Huang, W., Jhuang, Y., Chang, Y., Hsu, H., & Jeng, Y. (2017) · The Journal of Pathology · doi:10.1002/path.4899 · Cited by 18 · see citing works
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Dalmazi, G. D., & Beuschlein, F. (2016) · Hormone and Metabolic Research · doi:10.1055/s-0042-120416 · Cited by 18 · see citing works
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Zavatta, G., & Dalmazi, G. D. (2018) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2018.01.003 · Cited by 17 · see citing works
Yokomoto‐Umakoshi, M., Fujita, M., Umakoshi, H., Ogasawara, T., Iwahashi, N., Nakatani, K., Kaneko, H., Fukumoto, T., Nakao, H., Haji, S., et al. (2025) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2421489122 · Cited by 16 · see citing works
Weigand, I., Ronchi, C. L., Vanselow, J. T., Bathon, K., Lenz, K., Herterich, S., Schlösser, A., Kroiß, M., Faßnacht, M., Calebiro, D., et al. (2021) · Science Advances · doi:10.1126/sciadv.abd4176 · Cited by 15 · see citing works
Self-citationWu, W.-C., Peng, K., Lu, J., Chan, C., Wang, C., Tseng, F., Yang, W., Lin, Y., Lin, P., Chen, T.-C., et al. (2022) · European Journal of Endocrinology · doi:10.1530/eje-22-0286 · Cited by 14 · see citing works
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Pitsava, G., Maria, A. G., & Faucz, F. R. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.931389 · Cited by 13 · see citing works
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Omar, M. H., Byrne, D. P., Shrestha, S., Lakey, T. M., Lee, K., Lauer, S. M., Collins, K. B., Daly, L. A., Eyers, C. E., Baird, G. S., et al. (2024) · Science Advances · doi:10.1126/sciadv.adl1258 · Cited by 14 · see citing works
Kitamura, T., Blinder, A., Nanba, K., Tsuiki, M., Mishina, M., Okuno, H., Moriyoshi, K., Yamazaki, Y., Sasano, H., Yoneyama, K., et al. (2022) · European Journal of Endocrinology · doi:10.1530/eje-22-0508 · Cited by 12 · see citing works
Peverelli, E., Catalano, R., Giardino, E., Treppiedi, D., Morelli, V., Ronchi, C. L., Vaczlavik, A., Fusco, N., Ferrero, S., Bertherat, J. Y., et al. (2017) · Cancer Letters · doi:10.1016/j.canlet.2017.07.025 · Cited by 13 · see citing works
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Ronchi, C. L. (2019) · Current Opinion in Endocrine and Metabolic Research · doi:10.1016/j.coemr.2019.06.003 · Cited by 10 · see citing works
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Liu, Z., Xing, L., Huang, W., Ji, N., Zhao, H., Chen, Q., Han, X., Bai, D., & Zhao, X. (2025) · Nature Communications · doi:10.1038/s41467-025-61402-z · Cited by 7 · see citing works
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
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Suntornlohanakul, O., Ronchi, C. L., Arlt, W., & Prete, A. (2025) · European Journal of Endocrinology · doi:10.1093/ejendo/lvaf088 · Cited by 6 · see citing works
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Wu, L., Xie, J., Qi, Y., Su, T., Jiang, L., Zhou, W., Jiang, Y., Zhang, C., Zhong, X., Cao, Y., et al. (2022) · Endocrine Related Cancer · doi:10.1530/erc-21-0410 · Cited by 6 · see citing works
Bloyd, M., Settas, N., Faucz, F. R., Sinaii, N., Bathon, K., Iben, J., Coon, S. L., Caprio, S., Stratakis, C. A., & London, E. (2021) · Journal of the Endocrine Society · doi:10.1210/jendso/bvab071 · Cited by 6 · see citing works
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Vaduva, P., & Bertherat, J. Y. (2024) · HORMONES · doi:10.1007/s42000-024-00608-0 · Cited by 5 · see citing works
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Nicolson, N. G., Man, J., & Carling, T. (2017) · Current Opinion in Oncology · doi:10.1097/cco.0000000000000415 · Cited by 5 · see citing works
Chiodini, I., & Gennari, L. (2021) · Frontiers in Endocrinology · doi:10.3389/fendo.2021.747006 · Cited by 4 · see citing works
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Messina, E., Inglesi, A., Puglisi, S., Nekić, A. B., Morelli, V., Alessi, Y., Tomsic, K. Z., Palmieri, S., Tomaiuolo, P., Grosso, E., et al. (2025) · Frontiers in Endocrinology · doi:10.3389/fendo.2025.1685220 · Cited by 4 · see citing works
Self-citationElhassan, Y., Appenzeller, S., Landwehr, L., Lippert, J., Popat, D., Gilligan, L. C., Abdi, L., Goh, E., Díaz‐Cano, S. J., Kircher, S., et al. (2024) · European Journal of Endocrinology · doi:10.1093/ejendo/lvae106 · Cited by 4 · see citing works
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Kim, S., Chaudhary, P. K., & Kim, S. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms252111341 · Cited by 4 · see citing works
Rege, J., & Udager, A. M. (2024) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2024.106666 · Cited by 3 · see citing works
ccfDNA analysis for the classification of adrenocortical adenomas
Xu, M., Tourigny, D. S., Lippert, J., Crastin, A., Appenzeller, S., Asia, M. F., Podstawka, O., Smith, G., Elhassan, Y., Skordilis, K., et al. (2025) · Journal of Endocrinological Investigation · doi:10.1007/s40618-025-02540-5 · Cited by 3 · see citing works
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Pakbaz, S., & Mete, Ö. (2019) · Diagnostic histopathology · doi:10.1016/j.mpdhp.2019.02.004 · Cited by 3 · see citing works
Dalmazi, G. D., Morandi, L., Rubin, B., Pilon, C., Asioli, S., Vicennati, V., De Leo, A., Ambrosi, F., Santini, D., Pagotto, U., et al. (2021) · Yearbook of pediatric endocrinology · doi:10.1530/ey.18.8.14 · Cited by 3 · see citing works
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Pihlajoki, M., Heikinheimo, M., & Wilson, D. B. (2017) · Contemporary Endocrinology · doi:10.1007/978-3-319-62470-9_2 · Cited by 2 · see citing works
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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
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Ghorayeb, N. E., Bourdeau, I., & Lacroix, A. (2017) · Contemporary Endocrinology · doi:10.1007/978-3-319-62470-9_7 · Cited by 2 · see citing works
Han, A. J., Achenbach, S. J., Atkinson, E. J., & Bancos, I. (2025) · European Journal of Endocrinology · doi:10.1093/ejendo/lvaf184 · Cited by 1 · see citing works
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Carling, T., Stratakis, C. A., Faucz, F. R., & Juhlin, C. C. (2026) · iScience · doi:10.1016/j.isci.2026.114910 · Cited by 1 · 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-citationDhaybi, O. A., & Bhatt, D. L. (2026) · Diabetes Obesity and Metabolism · doi:10.1111/dom.71029 · 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
Self-citationDisruptions to protein kinase A localization in adrenal pathology
Omar, M. H. (2024) · Biochemical Society Transactions · doi:10.1042/bst20240444 · Cited by 1 · see citing works
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Dalmazi, G. D. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.65213-3 · Cited by 1 · see citing works
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Bourdeau, I. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.64311-8
Catalano, R., Peverelli, E., Giardino, E., Treppiedi, D., Morelli, V., Chiodini, I., Marcon, L., Ronchi, C. L., Bertherat, J. Y., Beuschlein, F., et al. (2017) · Endocrine Abstracts · doi:10.1530/endoabs.49.ep20
Self-citationNosé, V. (2018) · Elsevier eBooks · doi:10.1016/b978-0-323-52480-3.50087-1
Nosé, V. (2018) · Elsevier eBooks · doi:10.1016/b978-0-323-52480-3.50086-x
Omar, M. H., Byrne, D. P., Jones, K. N., Lakey, T. M., Collins, K. B., Lee, K., Daly, L. A., Forbush, K. A., Lau, H.-T., Golkowski, M. G., et al. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.10.18.464848
El antimilitarismo en el movimiento antiguerra
Barranco, C. P. (2003) · Africa América Latina, cuadernos: Revista de análisis sur-norte para una cooperación solidaria
Adrenocortical Tumors and gsp Mutations
Fragoso, M. C. B. V., Cavalcante, I. P., de Araújo, L. J. T., Charchar, H. L. S., Wanichi, I. Q., Balderrama-Brondani, V., Ferreira, A. M., & Mariani, B. M. P. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.64284-8
Lerário, A. M., Mohan, D. R., Giordano, T. J., & Hammer, G. D. (2023) · Elsevier eBooks · doi:10.1016/b978-0-12-821424-4.00013-7
(2024) · American Registry of PathologyArlington, Virginia eBooks · doi:10.55418/9781933477473-05
Adrenocortical tumors and gsp mutations
Fragoso, M. C. B. V., Cavalcante, I. P., de Araújo, L. J. T., Charchar, H. L. S., Wanichi, I. Q., Balderrama, V., Ferreira, A. M., & Mariani, B. M. P. (2025) · Elsevier eBooks · doi:10.1016/b978-0-443-13825-6.00225-9
Cushing syndrome—Unilateral adrenal adenoma
Dalmazi, G. D. (2025) · Elsevier eBooks · doi:10.1016/b978-0-443-13825-6.00221-1
Protein Kinase A Signaling in Cortisol Production and Adrenal Cushing’s Syndrome
Kumar, A., Sharma, A., & Omar, M. H. (2025) · Cells · doi:10.3390/cells15010063
Adrenal tumors causing Cushing syndrome: Genetics, molecular advances, diagnosis, and treatment
Vaduva, P., Violon, F., & Bertherat, J. Y. (2026) · Elsevier eBooks · doi:10.1016/b978-0-323-96100-4.00017-x
Self-citationSomatic β-catenin gene mutations and WNT signaling in adrenal tumors
Perreault, F., & Bourdeau, I. (2026) · Elsevier eBooks · doi:10.1016/b978-0-443-13825-6.00335-6
Génomique intégrée des tumeurs bénignes corticosurrénaliennes
Faillot, S. (2017) · theses.fr (ABES) · doi:10.70675/36869127z1fb2z41bbzb082z1048e489a8e6
Self-citationGenomic Catastrophe Defines the Evolutionary Trajectory of Adrenocortical Carcinoma
Backman, S., Axling, F., (41392), L. Z., Botling, J., Juhlin, C. C., Barazeghi, E., Skogseid, B. M., Klimàcek, B., Annebäck, M., Zedenius, J., et al. (2026) · Endocrine Pathology · doi:10.1007/s12022-026-09922-2
Adrenocorticotropic hormone-independent Cushing syndrome
Ramamurthy, P., Pooja, U. K., Santhosh, T., & Ganavi, Y. P. (2026) · The National Medical Journal of India · doi:10.25259/nmji_879_2024
- Authors
- Ronchi, C. L., Di Dalmazi, G., Faillot, S., Sbiera, S., Assié, G., Weigand, I., Calebiro, D., Schwarzmayr, T., Appenzeller, S., Rubin, B., Waldmann, J., Scaroni, C., Bartsch, D. K., Mantero, F., Mannelli, M., Kastelan, D., Chiodini, I., Bertherat, J., Reincke, M., Strom, T. M., Fassnacht, M., Beuschlein, F., & on behalf of the European Network for the Study of Adrenocortical Tumors (ENSAT)
- Affiliations
- University of Würzburg (DE)
- Medizinische Klinik und Poliklinik IV (G.D.D., M.R., F.B.), Klinikum der Universitaet Muenchen, 80337 Munich, Germany
- Centre National de la Recherche Scientifique (FR)
- Comprehensive Cancer Center Mainfranken (DE)
- Helmholtz Munich (DE)
- Azienda Ospedale - Università Padova (IT)
- Universitätsklinikum Gießen und Marburg (DE)
- University of Florence (IT)
- Department of Endocrinology (D.K.), University Hospital Centre Zagreb, 10000 Zagreb, Croatia
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
- LMU Klinikum (DE)
- Corresponding author
- Ronchi, Cristina L.
- ORCID
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2016-07-07
- Volume
- 101
- Issue
- 9
- Pages
- 3526-3538
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W2470050827
- Cited by
- 93
- References
- 44
- Citations by year
- 2026: 7 · 2025: 10 · 2024: 10 · 2023: 5 · 2022: 9 · 2021: 13 · 2020: 6 · 2019: 6 · 2018: 11 · 2017: 13 · 2016: 2
- FWCI
- 11.80
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Archivio istituzionale della ricerca (Alma Mater Studiorum Università di Bologna) (submittedVersion)
- Florence Research (University of Florence) (submittedVersion)
- mediaTUM (Technical University of Munich) (submittedVersion)
- University of Birmingham Research Portal (University of Birmingham) (submittedVersion, other-oa)
- PuSH - Publication Server of Helmholtz Zentrum München (submittedVersion)
- Padua Research Archive (University of Padova) (submittedVersion)
- Zurich Open Repository and Archive (University of Zurich) (submittedVersion)
- Funders
- Wilhelm Sander-Stiftung
- E-Rare
- European Commission (259735)
- 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
- adrenal adenoma, somatic mutations, cAMP/protein kinase A pathway, Wnt/β-catenin signaling, calcium signaling, Cushing's syndrome, genotype-phenotype correlation, somatic copy number alterations
- MeSH terms
- Adrenal Cortex Neoplasms, Adult, Aged, Female, Follow-Up Studies, Humans, Male, Middle Aged, Mutation, Biomarkers, Tumor, Adrenocortical Adenoma, Cyclic AMP-Dependent Protein Kinase Catalytic Subunits, High-Throughput Nucleotide Sequencing, Exome
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