{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T19:07:13Z","timestamp":1788030433099,"version":"build-2784847793"},"reference-count":54,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T00:00:00Z","timestamp":1764115200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"French Ministry of Health","award":["PHRC AOM 12-002-0042"],"award-info":[{"award-number":["PHRC AOM 12-002-0042"]}]},{"name":"Agence nationale pour la recherche","award":["ANR-21-CE14-0082-0003"],"award-info":[{"award-number":["ANR-21-CE14-0082-0003"]}]},{"DOI":"10.13039\/501100002915","name":"Fondation pour la Recherche M\u00e9dicale","doi-asserted-by":"publisher","award":["FRM EQU201903007854"],"award-info":[{"award-number":["FRM EQU201903007854"]}],"id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"publisher"}]},{"name":"COST ACTION CA20122 Harmonization"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,11,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Constitutional duplications of PRKACA (PRKACAdup) have been described in rare cases of bilateral nodular adrenocortical disease (BNAD). The aim here was to clarify the phenotype in case of PRKACAdup, through systematic screening in BNAD patients, and study the molecular mechanisms involved.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Between 2020 and 2024, 781 index cases (IC) with BNAD (693 bilateral macronodular hyperplasia and 88 primary pigmented nodular adrenocortical diseases [PPNAD]) were genotyped using next-generation sequencing with a panel targeting ARMC5, KDM1A, MEN1, PRKAR1A, PRKACA, or whole-genome sequencing (WGS). Chromatin conformation analyses were performed with Hi-C libraries generated from 3 tumors.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>PRKACAdup was identified in 8\/781 IC and 8\/12 screened relatives. WGS performed on 4 IC presenting with PPNAD revealed no other genetic alterations in genes associated with human pathology within the duplicated region, nor any other alterations related to adrenal pathology. All IC with PRKACAdup underwent adrenalectomy for ACTH-independent hypercortisolism, with pathology confirming PPNAD. Other manifestations of Carney complex were observed in 8 of the 16 patients with PRKACAdup, limited to lentiginosis and benign tumors of the gonads. Immunohistochemistry using PRKACA\/PRKAR1A antibodies facilitated the differentiation of the responsible genetic alteration. PRKACAdup was found to generate topologically associated neo-domains, in tumor Hi-C maps, as compared to controls.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>PRKACAdup causes PPNAD but no other forms of BNAD, so these should be sought in the absence of pathogenic PRKAR1A variants.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/ejendo\/lvaf255","type":"journal-article","created":{"date-parts":[[2025,12,13]],"date-time":"2025-12-13T12:58:39Z","timestamp":1765630719000},"page":"733-744","source":"Crossref","is-referenced-by-count":5,"title":["<i>PRKACA<\/i>\n                    constitutional duplication: a specific cause of primary pigmented nodular adrenocortical disease"],"prefix":"10.1093","volume":"193","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3195-1629","authenticated-orcid":false,"given":"Patricia","family":"Vaduva","sequence":"first","affiliation":[{"name":"Genomic and Signaling of Endocrine Tumors Team, INSERM U1016, CNRS UMR8104, Cochin Institute, Paris Cit\u00e9 University , 75005 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7990-3434","authenticated-orcid":false,"given":"Florian","family":"Violon","sequence":"additional","affiliation":[{"name":"Genomic and Signaling of Endocrine Tumors Team, INSERM U1016, CNRS UMR8104, Cochin Institute, Paris Cit\u00e9 University , 75005 Paris ,","place":["France"]},{"name":"Department of Pathology, Cochin Hospital, APHP , 75014 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albain","family":"Chansavang","sequence":"additional","affiliation":[{"name":"Department of Genomic Medicine of Tumors and Cancers, Cochin Hospital, APHP , 75014 Paris ,","place":["France"]},{"name":"Genomic and Epigenetics of Rare Tumors Team, INSERM U1016, CNRS UMR8104, Cochin Institute, Paris Cit\u00e9 University , 75005 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Djihad","family":"Hadjadj","sequence":"additional","affiliation":[{"name":"Genomic and Epigenetics of Rare Tumors Team, INSERM U1016, CNRS UMR8104, Cochin Institute, Paris Cit\u00e9 University , 75005 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9517-338X","authenticated-orcid":false,"given":"Gerald","family":"Raverot","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Groupement Hospitalier Est, Hospices Civils de Lyon , 69677 Bron ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Espiard","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Inserm U 1190, Lille University Hospital , 59000 Lille ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-0570-749X","authenticated-orcid":false,"given":"Amina","family":"Attia","sequence":"additional","affiliation":[{"name":"Genomic and Signaling of Endocrine Tumors Team, INSERM U1016, CNRS UMR8104, Cochin Institute, Paris Cit\u00e9 University , 75005 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucas","family":"Bouys","sequence":"additional","affiliation":[{"name":"Genomic and Signaling of Endocrine Tumors Team, INSERM U1016, CNRS UMR8104, Cochin Institute, Paris Cit\u00e9 University , 75005 Paris ,","place":["France"]},{"name":"Department of Endocrinology, Reference Center for Rare Adrenal Diseases, Cochin Hospital, APHP , 75014 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-6308-3309","authenticated-orcid":false,"given":"Louis","family":"Thomeret","sequence":"additional","affiliation":[{"name":"Genomic and Signaling of Endocrine Tumors Team, INSERM U1016, CNRS UMR8104, Cochin Institute, Paris Cit\u00e9 University , 75005 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aliny","family":"Weber Kuhn","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Adrenal Unit, University of Sao Paulo , 05403-010, Sao Paulo ,","place":["Brazil"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karine","family":"Perlemoine","sequence":"additional","affiliation":[{"name":"Genomic and Signaling of Endocrine Tumors Team, INSERM U1016, CNRS UMR8104, Cochin Institute, Paris Cit\u00e9 University , 75005 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Chevalier","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Diabetology, and Reproductive Medicine, Nice University Hospital , 06200 Nice ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Christine","family":"Vantyghem","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Inserm U 1190, Lille University Hospital , 59000 Lille ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Polak","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Gynecology, and Diabetology, Necker Enfants Malades University Hospital, APHP , 75015 Paris ,","place":["France"]},{"name":"Paris Cit\u00e9 University , 75006 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6150-1915","authenticated-orcid":false,"given":"Maria","family":"Fragoso","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Adrenal Unit, University of Sao Paulo , 05403-010, Sao Paulo ,","place":["Brazil"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5576-9525","authenticated-orcid":false,"given":"Annabel","family":"Berthon","sequence":"additional","affiliation":[{"name":"Genomic and Signaling of Endocrine Tumors Team, INSERM U1016, CNRS UMR8104, Cochin Institute, Paris Cit\u00e9 University , 75005 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Ragazzon","sequence":"additional","affiliation":[{"name":"Genomic and Signaling of Endocrine Tumors Team, INSERM U1016, CNRS UMR8104, Cochin Institute, Paris Cit\u00e9 University , 75005 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1282-8732","authenticated-orcid":false,"given":"Mathilde","family":"Sibony","sequence":"additional","affiliation":[{"name":"Genomic and Signaling of Endocrine Tumors Team, INSERM U1016, CNRS UMR8104, Cochin Institute, Paris Cit\u00e9 University , 75005 Paris ,","place":["France"]},{"name":"Department of Pathology, Cochin Hospital, APHP , 75014 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Pasmant","sequence":"additional","affiliation":[{"name":"Department of Genomic Medicine of Tumors and Cancers, Cochin Hospital, APHP , 75014 Paris ,","place":["France"]},{"name":"Genomic and Epigenetics of Rare Tumors Team, INSERM U1016, CNRS UMR8104, Cochin Institute, Paris Cit\u00e9 University , 75005 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Jouinot","sequence":"additional","affiliation":[{"name":"Genomic and Signaling of Endocrine Tumors Team, INSERM U1016, CNRS UMR8104, Cochin Institute, Paris Cit\u00e9 University , 75005 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2551-3008","authenticated-orcid":false,"given":"J\u00e9r\u00f4me","family":"Bertherat","sequence":"additional","affiliation":[{"name":"Genomic and Signaling of Endocrine Tumors Team, INSERM U1016, CNRS UMR8104, Cochin Institute, Paris Cit\u00e9 University , 75005 Paris ,","place":["France"]},{"name":"Department of Endocrinology, Reference Center for Rare Adrenal Diseases, Cochin Hospital, APHP , 75014 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,12,16]]},"reference":[{"issue":"1","key":"2025123110565903300_lvaf255-B1","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1007\/s12022-022-09710-8","article-title":"Overview of the 2022 WHO classification of adrenal cortical tumors","volume":"33","author":"Mete","year":"2022","journal-title":"Endocr Pathol"},{"issue":"11","key":"2025123110565903300_lvaf255-B2","doi-asserted-by":"publisher","first-page":"1071","DOI":"10.1056\/NEJMc1316140","article-title":"Intraadrenal corticotropin in bilateral macronodular adrenal hyperplasia","volume":"370","author":"Louiset","year":"2014","journal-title":"N Engl J Med"},{"issue":"22","key":"2025123110565903300_lvaf255-B3","doi-asserted-by":"publisher","first-page":"2147","DOI":"10.1056\/NEJMe1312792","article-title":"Heredity and cortisol regulation in bilateral macronodular adrenal hyperplasia","volume":"369","author":"Lacroix","year":"2013","journal-title":"N Engl J Med"},{"issue":"4","key":"2025123110565903300_lvaf255-B4","doi-asserted-by":"publisher","first-page":"567","DOI":"10.1210\/endrev\/bnac034","article-title":"Clinical, pathophysiologic, genetic, and therapeutic progress in primary bilateral macronodular adrenal hyperplasia","volume":"44","author":"Bertherat","year":"2023","journal-title":"Endocr Rev"},{"issue":"2","key":"2025123110565903300_lvaf255-B5","doi-asserted-by":"publisher","first-page":"374","DOI":"10.1016\/j.gim.2021.09.018","article-title":"KDM1A inactivation causes hereditary food-dependent Cushing syndrome","volume":"24","author":"Vaczlavik","year":"2022","journal-title":"Genet Med."},{"issue":"2","key":"2025123110565903300_lvaf255-B6","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1093\/ejendo\/lvaf016","article-title":"KDM1A genetic alterations, a rare cause of primary bilateral macronodular adrenal hyperplasia, strongly associated with food-dependent Cushing's syndrome: results of its systematic germline screening in 301 index cases and genotype\/phenotype correlation","volume":"192","author":"Bouys","year":"2025","journal-title":"Eur J Endocrinol"},{"issue":"12","key":"2025123110565903300_lvaf255-B7","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1016\/S2213-8587(21)00236-9","article-title":"Loss of KDM1A in GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome: a multicentre, retrospective, cohort study","volume":"9","author":"Chasseloup","year":"2021","journal-title":"Lancet Diabetes Endocrinol"},{"issue":"1","key":"2025123110565903300_lvaf255-B8","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1530\/EJE-21-1032","article-title":"Identification of predictive criteria for pathogenic variants of primary bilateral macronodular adrenal hyperplasia (PBMAH) gene ARMC5 in 352 unselected patients","volume":"187","author":"Bouys","year":"2022","journal-title":"Eur J Endocrinol"},{"issue":"22","key":"2025123110565903300_lvaf255-B9","doi-asserted-by":"publisher","first-page":"2105","DOI":"10.1056\/NEJMoa1304603","article-title":"ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome","volume":"369","author":"Assi\u00e9","year":"2013","journal-title":"N Engl J Med"},{"issue":"2","key":"2025123110565903300_lvaf255-B10","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1530\/EJE-11-0679","article-title":"Adrenal involvement in MEN1. Analysis of 715 cases from the Groupe d\u2019etude des Tumeurs Endocrines database","volume":"166","author":"Gatta-Cherifi","year":"2012","journal-title":"Eur J Endocrinol"},{"issue":"6","key":"2025123110565903300_lvaf255-B11","doi-asserted-by":"publisher","first-page":"3773","DOI":"10.1210\/jc.2004-2377","article-title":"Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical Cushing syndrome: a clinical and molecular genetic investigation","volume":"90","author":"Matyakhina","year":"2005","journal-title":"J Clin Endocrinol Metab"},{"issue":"8","key":"2025123110565903300_lvaf255-B12","doi-asserted-by":"publisher","first-page":"2930","DOI":"10.1210\/jc.2009-0516","article-title":"Clinical and genetic heterogeneity, overlap with other tumor syndromes, and atypical glucocorticoid hormone secretion in adrenocorticotropin-independent macronodular adrenal hyperplasia compared with other adrenocortical tumors","volume":"94","author":"Hsiao","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"issue":"11","key":"2025123110565903300_lvaf255-B13","doi-asserted-by":"publisher","first-page":"699","DOI":"10.1038\/s41574-022-00718-y","article-title":"Primary bilateral macronodular adrenal hyperplasia: definitely a genetic disease","volume":"18","author":"Cavalcante","year":"2022","journal-title":"Nat Rev Endocrinol"},{"issue":"7","key":"2025123110565903300_lvaf255-B14","doi-asserted-by":"publisher","first-page":"3173","DOI":"10.1210\/jc.2003-032247","article-title":"Cyclical Cushing syndrome presenting in infancy: an early form of primary pigmented nodular adrenocortical disease, or a new entity?","volume":"89","author":"Gunther","year":"2004","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"2025123110565903300_lvaf255-B15","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1097\/PAS.0000000000000748","article-title":"Cushing syndrome in carney Complex: clinical, pathologic, and molecular genetic findings in the 17 affected mayo clinic patients","volume":"41","author":"Lowe","year":"2017","journal-title":"Am J Surg Pathol"},{"issue":"6","key":"2025123110565903300_lvaf255-B16","doi-asserted-by":"publisher","first-page":"2085","DOI":"10.1210\/jc.2008-2333","article-title":"Mutations in regulatory subunit type 1A of cyclic adenosine 5\u2032-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes","volume":"94","author":"Bertherat","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"issue":"9","key":"2025123110565903300_lvaf255-B17","doi-asserted-by":"publisher","first-page":"4041","DOI":"10.1210\/jcem.86.9.7903","article-title":"Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation","volume":"86","author":"Stratakis","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"issue":"24","key":"2025123110565903300_lvaf255-B18","doi-asserted-by":"publisher","first-page":"11571","DOI":"10.1158\/0008-5472.CAN-06-2914","article-title":"Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population","volume":"66","author":"Horvath","year":"2006","journal-title":"Cancer Res"},{"issue":"12","key":"2025123110565903300_lvaf255-B19","doi-asserted-by":"publisher","first-page":"4016","DOI":"10.1158\/1078-0432.CCR-08-0106","article-title":"Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors","volume":"14","author":"Lib\u00e9","year":"2008","journal-title":"Clin Cancer Res Off J Am Assoc Cancer Res"},{"issue":"7","key":"2025123110565903300_lvaf255-B20","doi-asserted-by":"publisher","first-page":"750","DOI":"10.1056\/NEJMc0706182","article-title":"Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia","volume":"358","author":"Horvath","year":"2008","journal-title":"N Engl J Med"},{"issue":"2","key":"2025123110565903300_lvaf255-B21","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1111\/j.1365-2265.2012.04366.x","article-title":"Identification of novel genetic variants in phosphodiesterase 8B (PDE8B), a cAMP-specific phosphodiesterase highly expressed in the adrenal cortex, in a cohort of patients with adrenal tumours","volume":"77","author":"Rothenbuhler","year":"2012","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"1","key":"2025123110565903300_lvaf255-B22","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1038\/79238","article-title":"Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex","volume":"26","author":"Kirschner","year":"2000","journal-title":"Nat Genet"},{"issue":"3","key":"2025123110565903300_lvaf255-B23","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1007\/s11102-006-0266-1","article-title":"PRKAR1A mutations in primary pigmented nodular adrenocortical disease","volume":"9","author":"Cazabat","year":"2006","journal-title":"Pituitary"},{"issue":"9","key":"2025123110565903300_lvaf255-B24","doi-asserted-by":"publisher","first-page":"3133","DOI":"10.1158\/0008-5472.CAN-08-0064","article-title":"Protein kinase A effects of an expressed PRKAR1A mutation associated with aggressive tumors","volume":"68","author":"Meoli","year":"2008","journal-title":"Cancer Res"},{"issue":"11","key":"2025123110565903300_lvaf255-B25","doi-asserted-by":"publisher","first-page":"1019","DOI":"10.1056\/NEJMoa1310359","article-title":"Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome","volume":"370","author":"Beuschlein","year":"2014","journal-title":"N Engl J Med"},{"issue":"6","key":"2025123110565903300_lvaf255-B26","doi-asserted-by":"publisher","first-page":"803","DOI":"10.1530\/EJE-14-1154","article-title":"Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations","volume":"172","author":"Lodish","year":"2015","journal-title":"Eur J Endocrinol"},{"issue":"1","key":"2025123110565903300_lvaf255-B27","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1016\/j.humpath.2014.09.005","article-title":"Germline PRKACA amplification leads to Cushing syndrome caused by 3 adrenocortical pathologic phenotypes","volume":"46","author":"Carney","year":"2015","journal-title":"Hum Pathol"},{"issue":"6280","key":"2025123110565903300_lvaf255-B28","doi-asserted-by":"publisher","first-page":"1454","DOI":"10.1126\/science.aad9024","article-title":"Activation of proto-oncogenes by disruption of chromosome neighborhoods","volume":"351","author":"Hnisz","year":"2016","journal-title":"Science"},{"issue":"5","key":"2025123110565903300_lvaf255-B29","doi-asserted-by":"publisher","first-page":"1012","DOI":"10.1016\/j.cell.2015.04.004","article-title":"Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions","volume":"161","author":"Lupi\u00e1\u00f1ez","year":"2015","journal-title":"Cell"},{"issue":"5","key":"2025123110565903300_lvaf255-B30","doi-asserted-by":"publisher","first-page":"1188","DOI":"10.1016\/j.cell.2016.10.024","article-title":"Insulated neighborhoods: structural and functional units of mammalian gene control","volume":"167","author":"Hnisz","year":"2016","journal-title":"Cell"},{"issue":"5","key":"2025123110565903300_lvaf255-B31","doi-asserted-by":"publisher","first-page":"1526","DOI":"10.1210\/jc.2008-0125","article-title":"The diagnosis of Cushing's syndrome: an endocrine society clinical practice guideline","volume":"93","author":"Nieman","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"2025123110565903300_lvaf255-B32","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1038\/s41572-024-00588-w","article-title":"Cushing syndrome","volume":"11","author":"Nieman","year":"2025","journal-title":"Nat Rev Dis Primer"},{"issue":"1","key":"2025123110565903300_lvaf255-B33","doi-asserted-by":"publisher","first-page":"G1","DOI":"10.1093\/ejendo\/lvad066","article-title":"European Society of Endocrinology clinical practice guidelines on the management of adrenal incidentalomas, in collaboration with the European Network for the Study of Adrenal Tumors","volume":"189","author":"Fassnacht","year":"2023","journal-title":"Eur J Endocrinol"},{"issue":"3","key":"2025123110565903300_lvaf255-B34","doi-asserted-by":"publisher","first-page":"dgaa002","DOI":"10.1210\/clinem\/dgaa002","article-title":"Frequency and incidence of Carney complex manifestations: a prospective multicenter study with a three-year follow-up","volume":"105","author":"Espiard","year":"2020","journal-title":"J Clin Endocrinol Metab"},{"key":"2025123110565903300_lvaf255-B35","doi-asserted-by":"publisher","first-page":"101183","DOI":"10.1016\/j.lanepe.2024.101183","article-title":"PFMG2025-integrating genomic medicine into the national healthcare system in France","volume":"50","author":"PFMG2025 contributors","year":"2025","journal-title":"Lancet Reg Health Eur"},{"key":"2025123110565903300_lvaf255-B36","doi-asserted-by":"publisher","first-page":"e220491","DOI":"10.20945\/2359-4292-2022-0491","article-title":"Germline PRKACA amplification-associated primary pigmented nodular adrenocortical disease: a case report and literature review","volume":"68","author":"Yang","year":"2023","journal-title":"Arch Endocrinol Metab"},{"issue":"8","key":"2025123110565903300_lvaf255-B37","doi-asserted-by":"publisher","first-page":"585","DOI":"10.7326\/0003-4819-131-8-199910190-00006","article-title":"Paradoxical response to dexamethasone in the diagnosis of primary pigmented nodular adrenocortical disease","volume":"131","author":"Stratakis","year":"1999","journal-title":"Ann Intern Med"},{"issue":"17","key":"2025123110565903300_lvaf255-B38","doi-asserted-by":"publisher","first-page":"5308","DOI":"10.1158\/0008-5472.CAN-03-0941","article-title":"Molecular and functional analysis of PRKAR1A and its locus (17q22-24) in sporadic adrenocortical tumors: 17q losses, somatic mutations, and protein kinase A expression and activity","volume":"63","author":"Bertherat","year":"2003","journal-title":"Cancer Res"},{"issue":"5","key":"2025123110565903300_lvaf255-B39","doi-asserted-by":"publisher","first-page":"773","DOI":"10.1097\/00004728-199109000-00009","article-title":"CT and MR imaging of massive macronodular adrenocortical disease: a rare cause of autonomous primary adrenal hypercortisolism","volume":"15","author":"Doppman","year":"1991","journal-title":"J Comput Assist Tomogr"},{"issue":"11","key":"2025123110565903300_lvaf255-B40","doi-asserted-by":"publisher","first-page":"4332","DOI":"10.1210\/jc.2015-2174","article-title":"Hormonal, radiological, NP-59 scintigraphy, and pathological correlations in patients with Cushing's syndrome due to Primary Pigmented Nodular Adrenocortical Disease (PPNAD)","volume":"100","author":"Vezzosi","year":"2015","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"2025123110565903300_lvaf255-B41","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1007\/s12020-022-03142-4","article-title":"Unilateral or bilateral adrenalectomy in PPNAD: six cases from a single family followed up over 40 years","volume":"78","author":"Vitellius","year":"2022","journal-title":"Endocrine"},{"issue":"2","key":"2025123110565903300_lvaf255-B42","doi-asserted-by":"publisher","first-page":"101486","DOI":"10.1016\/j.beem.2021.101486","article-title":"Role of unilateral adrenalectomy in bilateral adrenal hyperplasias with Cushing's syndrome","volume":"35","author":"Meloche-Dumas","year":"2021","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"issue":"2","key":"2025123110565903300_lvaf255-B43","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1093\/ejendo\/lvae010","article-title":"Carney complex predisposes to breast cancer: prospective study of 50 women","volume":"190","author":"Vaduva","year":"2024","journal-title":"Eur J Endocrinol"},{"issue":"1","key":"2025123110565903300_lvaf255-B44","doi-asserted-by":"publisher","first-page":"218","DOI":"10.7150\/jca.88777","article-title":"Carcinogenic role and clinical significance of histone H3-H4 chaperone Anti-silencing Function 1 B (ASF1B) in lung adenocarcinoma","volume":"15","author":"Song","year":"2024","journal-title":"J Cancer"},{"key":"2025123110565903300_lvaf255-B45","doi-asserted-by":"publisher","first-page":"1533257","DOI":"10.3389\/fphar.2025.1533257","article-title":"ASF1B promotes gastric cancer progression by modulating H2AC20 and activating PI3K\/AKT and ERK1\/2 pathways","volume":"16","author":"Zhao","year":"2025","journal-title":"Front Pharmacol"},{"issue":"8","key":"2025123110565903300_lvaf255-B46","doi-asserted-by":"publisher","first-page":"1436","DOI":"10.1016\/j.ajhg.2022.06.011","article-title":"ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model","volume":"109","author":"Vitobello","year":"2022","journal-title":"Am J Hum Genet"},{"issue":"11","key":"2025123110565903300_lvaf255-B47","doi-asserted-by":"publisher","first-page":"1065","DOI":"10.1056\/NEJMc1309730","article-title":"PRKACB and Carney complex","volume":"370","author":"Forlino","year":"2014","journal-title":"N Engl J Med"},{"issue":"6","key":"2025123110565903300_lvaf255-B48","doi-asserted-by":"publisher","first-page":"K55","DOI":"10.1530\/EJE-22-0287","article-title":"Mosaic PRKACA duplication causing a novel and distinct phenotype of early-onset Cushing's syndrome and acral cutaneous mucinosis","volume":"187","author":"McGlacken-Byrne","year":"2022","journal-title":"Eur J Endocrinol"},{"issue":"5","key":"2025123110565903300_lvaf255-B49","doi-asserted-by":"publisher","first-page":"977","DOI":"10.1016\/j.ajhg.2020.09.005","article-title":"Germline and mosaic variants in PRKACA and PRKACB cause a multiple congenital malformation syndrome","volume":"107","author":"Palencia-Campos","year":"2020","journal-title":"Am J Hum Genet"},{"issue":"7624","key":"2025123110565903300_lvaf255-B50","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1038\/nature19800","article-title":"Formation of new chromatin domains determines pathogenicity of genomic duplications","volume":"538","author":"Franke","year":"2016","journal-title":"Nature"},{"issue":"7584","key":"2025123110565903300_lvaf255-B51","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1038\/nature16490","article-title":"Insulator dysfunction and oncogene activation in IDH mutant gliomas","volume":"529","author":"Flavahan","year":"2016","journal-title":"Nature"},{"issue":"18","key":"2025123110565903300_lvaf255-B52","doi-asserted-by":"publisher","first-page":"e92184","DOI":"10.1172\/jci.insight.92184","article-title":"Adrenal GIPR expression and chromosome 19q13 microduplications in GIP-dependent Cushing's syndrome","volume":"2","author":"Lecoq","year":"2017","journal-title":"JCI Insight"},{"issue":"14","key":"2025123110565903300_lvaf255-B53","doi-asserted-by":"publisher","first-page":"974","DOI":"10.1056\/NEJM199210013271402","article-title":"Gastric inhibitory polypeptide-dependent cortisol hypersecretion\u2013a new cause of Cushing's syndrome","volume":"327","author":"Lacroix","year":"1992","journal-title":"N Engl J Med"},{"issue":"4","key":"2025123110565903300_lvaf255-B54","doi-asserted-by":"publisher","first-page":"M85","DOI":"10.1530\/EJE-15-0209","article-title":"Carney complex: an update","volume":"173","author":"Correa","year":"2015","journal-title":"Eur J Endocrinol"}],"container-title":["European Journal of Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/ejendo\/advance-article-pdf\/doi\/10.1093\/ejendo\/lvaf255\/65928310\/lvaf255.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ejendo\/article-pdf\/193\/6\/733\/65928310\/lvaf255.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ejendo\/article-pdf\/193\/6\/733\/65928310\/lvaf255.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,31]],"date-time":"2025-12-31T15:57:04Z","timestamp":1767196624000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/193\/6\/733\/8382124"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,26]]},"references-count":54,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025,11,26]]}},"URL":"https:\/\/doi.org\/10.1093\/ejendo\/lvaf255","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,12]]},"published":{"date-parts":[[2025,11,26]]}}}